MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 15 transcript(s)...
Querying Taster for transcript #1: ENST00000517417
Querying Taster for transcript #2: ENST00000394576
Querying Taster for transcript #3: ENST00000253812
Querying Taster for transcript #4: ENST00000523390
Querying Taster for transcript #5: ENST00000571252
Querying Taster for transcript #6: ENST00000522605
Querying Taster for transcript #7: ENST00000518069
Querying Taster for transcript #8: ENST00000576222
Querying Taster for transcript #9: ENST00000517434
Querying Taster for transcript #10: ENST00000518325
Querying Taster for transcript #11: ENST00000519479
Querying Taster for transcript #12: ENST00000398604
Querying Taster for transcript #13: ENST00000573521
Querying Taster for transcript #14: ENST00000520790
Querying Taster for transcript #15: ENST00000398610
MT speed 0 s - this script 4.898008 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PCDHGA10	polymorphism_automatic	0.000177483195824002	simple_aae		affected		I89V	single base exchange	rs4912751		show file
PCDHGA1	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA2	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA3	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGB1	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA4	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGB2	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGB3	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA5	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA6	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA7	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGB4	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA8	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGA9	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file
PCDHGB6	polymorphism_automatic	0.99999999999078	without_aae		affected			single base exchange	rs4912751		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999822516804176 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA10

Ensembl transcript ID

ENST00000398610

Genbank transcript ID

NM_018913

UniProt peptide

Q9Y5H3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.265A>G
cDNA.265A>G
g.265A>G

AA changes

I89V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	274	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	259	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

265

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
33	137	DOMAIN	Cadherin 1.	lost
33	696	TOPO_DOM	Extracellular (Potential).	lost
138	246	DOMAIN	Cadherin 2.	might get lost (downstream of altered splice site)
247	351	DOMAIN	Cadherin 3.	might get lost (downstream of altered splice site)
352	456	DOMAIN	Cadherin 4.	might get lost (downstream of altered splice site)
423	423	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
457	566	DOMAIN	Cadherin 5.	might get lost (downstream of altered splice site)
549	549	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
574	687	DOMAIN	Cadherin 6.	might get lost (downstream of altered splice site)
697	717	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
718	936	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2811 / 2811

position (AA) of stopcodon in wt / mu AA sequence

937 / 937

position of stopcodon in wt / mu cDNA

2811 / 2811

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2585

theoretical NMD boundary in CDS

2534

length of CDS

2811

coding sequence (CDS) position

265

cDNA position
(for ins/del: last normal base / first normal base)

265

gDNA position
(for ins/del: last normal base / first normal base)

265

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered cDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

wildtype AA sequence

MAAQRNRSKE SKDCSGLVLL CLFFGIPWEA GARQISYSIP EELEKGSFVG NISKDLGLAP
RELAERGVRI VSRGRTQLFS LNPRSGSLIT AGRIDREELC AQSARCVVSF NILVEDRVKL
FGIEIEVTDI NDNAPKFQAE NLDVKINENV AAGMRFPLPE AIDPDVGVNS LQSYQLSPNK
HFSLRVQSRA NGVKYPELVL EHSLDREEEA IHHLVLTASD GGDPLRSGTV LVSVTVFDAN
DNAPVFTLPE YRVSVPENLP VGTQLLTVTA TDRDEGANGE VTYSFRKLPD TQLLKFQLNK
YTGEIKISEN LDYEETGFYE IEIQAEDGGA YLATAKVLIT VEDVNDNSPE LTITSLFSPV
TEDSPLGTVV ALLNVHDLDS EQNGQVTCSI LAYLPFKLEK SIDSYYRLVI HRALDREQVS
SYNITVTATD GGSPPLSTEA HFMLQVADIN DNPPTFSQVS YFTYIPENNA RGASIFSVTA
LDPDSKENAQ IIYSLAEDTI QGVPLSSYIS INSDTGVLYA LRSFDYEQFH ELQMQVTASD
SGDPPLSSNV SLSLFVLDQN DNAPEILYPA LPTDGSTGVE LAPRSAEPGY LVTKVVAVDR
DSGQNAWLSY RLLKASEPGL FAVGEHTGEV RTARALLDRD ALKQSLVVAV QDHGQPPLSA
TVTLTVAVAD SIPQVLADLG SFESPANSET SDLTLYLVVA VAAVSCVFLA FVIVLLAHRL
RRWHKSRLLQ ASGGGLTGVS GSHFVGVDGV RAFLQTYSHE VSLTADSRKS HLIFPQPNYA
DTLISQESCE KNDPLSLLDD SKFPIEDTPL VPQAPPNTDW RFSQAQRPGT SGSQNGDDTG
TWPNNQFDTE MLQAMILASA SEAADGSSTL GGGAGTMGLS ARYGPQFTLQ HVPDYRQNVY
IPGSNATLTN AAGKRDGKAP AGGNGNKKKS GKKEKK*

mutated AA sequence

MAAQRNRSKE SKDCSGLVLL CLFFGIPWEA GARQISYSIP EELEKGSFVG NISKDLGLAP
RELAERGVRI VSRGRTQLFS LNPRSGSLVT AGRIDREELC AQSARCVVSF NILVEDRVKL
FGIEIEVTDI NDNAPKFQAE NLDVKINENV AAGMRFPLPE AIDPDVGVNS LQSYQLSPNK
HFSLRVQSRA NGVKYPELVL EHSLDREEEA IHHLVLTASD GGDPLRSGTV LVSVTVFDAN
DNAPVFTLPE YRVSVPENLP VGTQLLTVTA TDRDEGANGE VTYSFRKLPD TQLLKFQLNK
YTGEIKISEN LDYEETGFYE IEIQAEDGGA YLATAKVLIT VEDVNDNSPE LTITSLFSPV
TEDSPLGTVV ALLNVHDLDS EQNGQVTCSI LAYLPFKLEK SIDSYYRLVI HRALDREQVS
SYNITVTATD GGSPPLSTEA HFMLQVADIN DNPPTFSQVS YFTYIPENNA RGASIFSVTA
LDPDSKENAQ IIYSLAEDTI QGVPLSSYIS INSDTGVLYA LRSFDYEQFH ELQMQVTASD
SGDPPLSSNV SLSLFVLDQN DNAPEILYPA LPTDGSTGVE LAPRSAEPGY LVTKVVAVDR
DSGQNAWLSY RLLKASEPGL FAVGEHTGEV RTARALLDRD ALKQSLVVAV QDHGQPPLSA
TVTLTVAVAD SIPQVLADLG SFESPANSET SDLTLYLVVA VAAVSCVFLA FVIVLLAHRL
RRWHKSRLLQ ASGGGLTGVS GSHFVGVDGV RAFLQTYSHE VSLTADSRKS HLIFPQPNYA
DTLISQESCE KNDPLSLLDD SKFPIEDTPL VPQAPPNTDW RFSQAQRPGT SGSQNGDDTG
TWPNNQFDTE MLQAMILASA SEAADGSSTL GGGAGTMGLS ARYGPQFTLQ HVPDYRQNVY
IPGSNATLTN AAGKRDGKAP AGGNGNKKKS GKKEKK*

speed

0.16 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA1

Ensembl transcript ID

ENST00000517417

Genbank transcript ID

NM_018912

UniProt peptide

Q9Y5H4

alteration type

single base exchange

alteration region

intron

DNA changes

g.82756A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	82765	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	82750	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

80335

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	931	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2570

theoretical NMD boundary in CDS

2519

length of CDS

2796

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

82756

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK DLGLQPQELA
DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM PCLVSFNILV EDKMKLFPVE
VEIIDINDNT PQFQLEELEF KMNEITTPGT RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL
DVQQGADGPQ HPEMVLQSPL DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP
AFTQAQYHIN VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE
ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT SVTTAVPENF
PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN YYRLVTERTL DRELISGYNI
TITAIDQGTP ALSTETHISL LVTDINDNSP VFHQDSYSAY IPENNPRGAS IFSVRAHDLD
SNENAQITYS LIEDTIQGAP LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP
PLSSNVSLSL FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV SCVFLAFVIV LLAHRLRRWH
KSRLLQASGG GLASMPGSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKKGF LSAPQSLLED KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K*

mutated AA sequence

N/A

speed

0.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA2

Ensembl transcript ID

ENST00000394576

Genbank transcript ID

NM_018915

UniProt peptide

Q9Y5H1

alteration type

single base exchange

alteration region

intron

DNA changes

g.74469A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	74478	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	74463	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

72045

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

74469

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAALQKLPHC RKLVLLCFLL ATLWEARAGQ IRYSVREEID RGSFVGNIAK DLGLEPLALA
EQGVRIVSRG RSQLFALNPR SGSLVTANRI DREELCAQSA PCLLNFNILL EDKLTIYSVE
VEITDINDNA PRFGVEELEL KISETTTPGF RIPLKNAHDA DVGENALQKY ALNPNDHFSL
DVRRGADGNK YPELVLERSL DREEEAVHHL VLVASDGGDP VLSGTSRICV KVLDANDNAP
VFTQPEYRIS IPENTLVGTR ILTVTATDAD EGYYAQVVYF LEKSPGETSE VFELKSTSGE
LTIIKDLDYE DATFHEIDIE AQDGPGLLTR AKVIVTVLDV NDNAPEFYMT SATSSVSEDS
LPGTIIGLFN VHDRDSGQNA FTTCSLPEDL PFKLEKSVDN YYRLVTTRAL DREQFSFYNI
TLTAKDGGNP SLSTDAHILL QVADINDNAP AFSRTSYSTY IPENNPRGAS VFSVTAHDPD
SNDNAHVTYS FAEDTVQGAP LSSYISINSD TGVLYALRSF DYEQLRDLQV WVIARDSGNP
PLSSNVSLSL FVLDQNDNAP EILYPAFPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYHLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAIQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAIPNDSDLT LYLVVAVAAV SCVFLAFVIV LLAHRLRRWH
KSRLLQASGG SLTGMQSSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKKDF LSAPQSLLEE EREETFSQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA3

Ensembl transcript ID

ENST00000253812

Genbank transcript ID

NM_018916

UniProt peptide

Q9Y5H0

alteration type

single base exchange

alteration region

intron

DNA changes

g.69407A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	69416	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	69401	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

66983

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

69407

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTNCLSFRNG RGLALLCALL GTLCETGSGQ IRYSVSEELD KGSFVGNIAN DLGLEPRELA
ERGVRIVSRG RTQLFSLNPQ SGSLVTAERI DREELCAQIP LCLVKINILV EDKLKIFEVE
IEIKDINDNA PNFPTEELEI KIGELTVPGT RFPIKTAFDP DVGINSLQNY KLSPNDYFSL
AVNSVSEGAK YPELVLERAL DREKKEIHQL VLVASDGGDP VHSGNLHIQV IVLDANDNPP
MFTQPEYRVS VWENVPVGTR LLTVNATDPD EGFNAQVSYI LDKMPGKIAE IFHLNSVSGE
VSILKSLDYE DAMFYEIKIE AQDGPGLLSR AKILVTVLDV NDNAPEITIT SLTSSVPEEG
TVGREIALID VHDRDSGQNG QVEVFVLGNL PFKLEKSIDQ YYRLVTATSL DREQISEYNI
SLRASDGGSP PLSTETHITL HVIDINDNPP TFPHLSYSAY IPENNPRGAS IFSVTAQDPD
SNNNARITYA LTEDTLQGAP LSSFVSINSN TGVLYALRSF DYEQFRDLKL LVTASDSGNP
PLSSNVSLNL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAKPNDSDLT LYLVVAVAAV SCVFLAFVIV LLALRLRRWH
KSRLLQASGG GLASTPGSHF VGADGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKSEP LLITQDLLEM KGDSNLLQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.35 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB1

Ensembl transcript ID

ENST00000523390

Genbank transcript ID

NM_018922

UniProt peptide

Q9Y5G3

alteration type

single base exchange

alteration region

intron

DNA changes

g.63180A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	63189	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	63174	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

60771

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
709	927	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2558

theoretical NMD boundary in CDS

2507

length of CDS

2784

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

63180

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MQRAREAEMM KSQVLFPFLL SLFCGAISQQ IRYTIPEELA NGSRVGKLAK DLGLSVRELP
TRKLRVSAED YFNVSLESGD LLVNGRIDRE KICGRKLECA LEFETVAENP MNVFHVVVVI
QDINDNAPRF VAKGIDLEIC ESALPGVKFS LDSAQDADVE GNSLKLYTIN PNQYFSLSTK
ESPDGSKYPV LLLEKPLDRE HQSSHRLILT AMDGGDPPLS GTTHIWIRVT DANDNAPVFS
QEVYRVSLQE NVPWGTSVLR VMATDQDEGI NAEITYAFLN SPISTSLFNL NPNTGDITTN
GTLDFEETSR YVLSVEAKDG GVHTAHCNVQ IEIVDENDNA PEVTFMSFSN QIPEDSDLGT
VIALIKVRDK DSGQNGMVTC YTQEEVPFKL ESTSKNYYKL VIAGALNREQ TADYNVTIIA
TDKGKPALSS RTSITLHISD INDNAPVFHQ ASYVVHVSEN NPPGASIAQV SASDPDLGPN
GRVSYSILAS DLEPRELLSY VSVSPQSGVV FAQRAFDHEQ LRAFELTLQA RDQGSPALSA
NVSLRVLVGD LNDNAPRVLY PALGPDGSAL FDMVPRAAEP GYLVTKVVAV DADSGHNAWL
SYHVLQASEP GLFSLGLRTG EVRTARALGD RDAARQRLLV AVRDGGQPPL SATATLHLIF
ADSLQEVLPD LSDRPEPSDP QTELQFYLVV ALALISVLFL LAVILAIALR LRRSSSLDTE
GCFQTGLCSK SGPGVPPNHS EGTLPYSYNL CIASHSAKTE FNSLNLTPEM APPQDLLCDD
PSMVVCASNE DHKIAYDPSL SSHQAPPNTD WRFSQAQRPG TSGSQNGDDT GTWPNNQFDT
EMLQAMILAS ASEAADGSST LGGGAGTMGL SARYGPQFTL QHVPDYRQNV YIPGSNATLT
NAAGKRDGKA PAGGNGNKKK SGKKEKK*

mutated AA sequence

N/A

speed

0.31 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA4

Ensembl transcript ID

ENST00000571252

Genbank transcript ID

NM_018917

UniProt peptide

Q9Y5G9

alteration type

single base exchange

alteration region

intron

DNA changes

g.58240A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	58249	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	58234	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

55819

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	931	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2570

theoretical NMD boundary in CDS

2519

length of CDS

2796

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

58240

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAPPARPDH TRLLQICLLL GVLVEIRAEQ ILYSVFEEQE EGSVVGNIAK DLGLAPRELA
ERGVRIVSRG RTQLFALNPR SGTLVTAGRI DREELCDRSP NCVTNLEILL EDTVKILRVE
VEIIDVNDNP PSFGTEQREI KVAENENPGA RFPLPEAFDP DVGVNSLQGY QLNSNGYFSL
DVQSGADGIK YPELVLERAL DREEEAVHHL VLTAFDGGDP VRSGTARILI ILVDTNDNAP
VFTQPEYHVS VRENVPVGTR LLTVKATDPD EGANGDVTYS FRKVRDKISQ LFQLNSLSGD
ITILGGLDYE DSGFYDIDVE AHDGPGLRAR SKVLVTVLDE NDNAPEVTVT SLTSSVQESS
SPGTVIALFN VHDSDSGGNG LVTCSIPDNL PFTLEKTYGN YYRLLTHRTL DREEVSEYNI
TVTATDQGTP PLSTETHISL QVMDINDNPP TFPHASYSAY IPENNPRGAS ILSMTAQDPD
SGDNARITYS LAEDTFQGAP LSSYVSINSN TGILYALCSF DYEQFRDLQL LMTASDSGDP
PLSSNVSLSL FVLDQNDNVP EILYPTFPTD GSTGVELAPR SADSGYLVTK VVAVDRDSGQ
NAWLSYSLLK SSEPGLFAVG LHTGEVRTAR ALLDRDALKQ RLVVVVQDHG QPPLSATVTL
TVAVADSIPD VLADLGSLKP SADPDDSGLT LYLVVAVAAV SCVFLAFVTV LLALKLRRWH
KSRLLHAEGS RLAGVPASHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF SQPSYADTLI
SRESCEKSEP LLITQDLLET KGDPNLQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K*

mutated AA sequence

N/A

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB2

Ensembl transcript ID

ENST00000522605

Genbank transcript ID

NM_018923

UniProt peptide

Q9Y5G2

alteration type

single base exchange

alteration region

intron

DNA changes

g.53305A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	53314	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	53299	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

50884

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
713	931	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2570

theoretical NMD boundary in CDS

2519

length of CDS

2796

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

53305

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKASSGRCGL VRWLQVLLPF LLSLFPGALP VQIRYSIPEE LAKNSVVGNL AKDLGLSVRD
LPARKLRVSA EKEYFTVNPE SGDLLVSDRI DREQICGKQP LCVLDFDTVA ENPLNIFYIA
VIVQDINDNT PLFKQTKINL KIGESTKPGT TFPLDPALDS DVGPNSLQRY HLNDNEYFDL
AEKQTPDGRK YPELILKHSL DREEHSLHQL VLTAVDGGDP PQSGTTQIRI KVTDANDNPP
VFSQDVYRVT LREDVPPGFF VLQVTATDRD EGINAEITYS FHNVDEQVKH FFNLNEKTGE
ITTKDDLDFE IASSYTLSIE AKDPGDLAAH CSIQVEILDD NDCAPEVIVT SVSTPLPEDS
PPGTVIALIK TRDRDSGENG EVYCQVLGNA KFILKSSSKN YYKLVTDGAL DREEIPEYNL
TITATDGGKP PLSSSIIVTL HISDVNDNAP VFQQTSYMVH VAENNPPGAS IAQISASDPD
LGPSGQVSYS IVASDLKPRE ILSYVSVSAQ SGVVFAQRAF DHEQLRAFEL TLQARDQGSP
ALSANVSLRV LVGDLNDNAP RVLYPALGPD GSALFDMVPR AAEPGYLVTK VVAVDADSGH
NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG QPPLSATATL
HLIFADSLQE VLPDLSDRRE PSDPQAKLQF YLVVALALIS VLFFLAVILA ISLRLRLSSR
SDAWDCFQPG LSSKPGPGVL PNYSEGTLPY SYNLCVASQS AKTEFNFLNI TPELVPAQDL
VCDNASWEQN TNHGAAGVPF ASDTILKQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K*

mutated AA sequence

N/A

speed

0.36 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB3

Ensembl transcript ID

ENST00000576222

Genbank transcript ID

NM_018924

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.43177A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	43186	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	43171	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

40631

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

132 / 132

chromosome

strand

last intron/exon boundary

2695

theoretical NMD boundary in CDS

2513

length of CDS

2790

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

43177

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGNSSGWRGP AGQRRMLFLF LLSLLDQVLS EPIRYAIPEE LDRGSLVGNL AKDLGFGVGD
LPTRNLRVIA EKKFFTVSPE NGNLLVSDRI DREEICGKKS TCVLEFEMVA EKPLNFFHVT
VLIQDINDNP PTFSQNITEL EISELALTGA TFALESAQDP DVGVNSLQQY YLSPDPHFSL
IQKENLDGSR YPELVLKAPL DREEQPHHHL VLTAVDGGEP SRSCTTQIRV IVADANDNPP
VFTQDMYRVN VAENLPAGSS VLKVMAIDMD EGINAEIIYA FINIGKEVRQ LFKLDSKTGE
LTTIGELDFE ERDSYTIGVE AKDGGHHTAY CKVQIDISDE NDNAPEITLA SESQHIQEDA
ELGTAVALIK THDLDSGFNG EILCQLKGNF PFKIVQDTKN TYRLVTDGAL DREQIPEYNV
TITATDKGNP PLSSSKTITL HILDVNDNVP VFHQASYTVH VAENNPPGAS IAHVRASDPD
LGPNGLVSYY IVASDLEPRE LSSYVSVSAR SGVVFAQRAF DHEQLRAFEL TLQARDQGSP
TLSANVSLRV LVDDRNDNAP LVLYPALGPE GSALFDMVPR SAEPGYLVTK VVAVDADSGY
NAWLSYHIVQ ASEPGLFSLG LRTGEVRTAR TLGDREAARQ RLLVTVRDGG QQPLSATVML
HLIFADSLQE IQPDLSDRPT PSDPQAELQF HLVVALALIS VLFLLAVILA ISLRLRCSSR
PATEGYFQPG VCFKTVPGVL PTYSERTLPY SYNPCAASHS SNTEFKFLNI KAENAAPQDL
LCDEASWFES NDNPEMPSNS GNLQKQAPPN TDWRFSQAQR PGTSGSQNGD DTGTWPNNQF
DTEMLQAMIL ASASEAADGS STLGGGAGTM GLSARYGPQF TLQHVPDYRQ NVYIPGSNAT
LTNAAGKRDG KAPAGGNGNK KKSGKKEKK*

mutated AA sequence

N/A

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA5

Ensembl transcript ID

ENST00000518069

Genbank transcript ID

NM_018918

UniProt peptide

Q9Y5G8

alteration type

single base exchange

alteration region

intron

DNA changes

g.49110A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	49119	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	49104	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

46689

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	931	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2570

theoretical NMD boundary in CDS

2519

length of CDS

2796

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

49110

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MASPPRGWGC GELLLPFMLL GTLCEPGSGQ IRYSMPEELD KGSFVGNIAK DLGLEPQELA
ERGVRIVSRG RTQLFALNPR SGSLVTAGRI DREELCAQSP LCVVNFNILV ENKMKIYGVE
VEIIDINDNF PRFRDEELKV KVNENAAAGT RLVLPFARDA DVGVNSLRSY QLSSNLHFSL
DVVSGTDGQK YPELVLEQPL DREKETVHDL LLTALDGGDP VLSGTTHIRV TVLDANDNAP
LFTPSEYSVS VPENIPVGTR LLMLTATDPD EGINGKLTYS FRNEEEKISE TFQLDSNLGE
ISTLQSLDYE ESRFYLMEVV AQDGGALVAS AKVVVTVQDV NDNAPEVILT SLTSSISEDC
LPGTVIALFS VHDGDSGENG EIACSIPRNL PFKLEKSVDN YYHLLTTRDL DREETSDYNI
TLTVMDHGTP PLSTESHIPL KVADVNDNPP NFPQASYSTS VTENNPRGVS IFSVTAHDPD
SGDNARVTYS LAEDTFQGAP LSSYVSINSD TGVLYALRSF DYEQLRDLQL WVTASDSGNP
PLSSNVSLSL FVLDQNDNTP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDKDSGQ
NAWLSYRLLK ASEPGLFAVG LHTGEVRTAR ALLDRDALKQ SLVVAVEDHG QPPLSATFTV
TVAVADRIPD ILADLGSIKT PIDPEDLDLT LYLVVAVAAV SCVFLAFVIV LLVLRLRRWH
KSRLLQAEGS RLAGVPASHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLL
SEESCEKSEP LLMSDKVDAN KEERRVQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K*

mutated AA sequence

N/A

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA6

Ensembl transcript ID

ENST00000517434

Genbank transcript ID

NM_018919

UniProt peptide

Q9Y5G7

alteration type

single base exchange

alteration region

intron

DNA changes

g.39357A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	39366	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	39351	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

36933

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

39357

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAPPQRHPQR SEQVLLLTLL GTLWGAAAAQ IRYSIPEELE KGSFVGNIVK DLGLEPQELA
EHGVRIVSRG RMQLFSLNPR NGSLVTAGRI DREELCAQSP RCLVSFNILV EDKLNLYPVE
VEIVDINDNT PRFLKEELEV KILENAAPSS RFPLMEVYDP DVGMNSLQGF KLSGNSHFSV
DVQSEAHGPK YPELVLEGTL DREGEAVYRL VLTAMDGGDP VRSSVAQILV TVLDVNDNTP
MFTQPVYRVS VPENLPVGTP VLAVTATDQD EGVHGEVTYS FVKITEKISQ IFCLNVLTGE
ISTSANLDYE DSSFYELGVE ARDGPGLRDR AKVLITILDV NDNVPEVVVT SGSRTIAESA
PPGTVIALFQ VFDRDSGLNG LVTCSIPRSL PFELEKSVGN YYRLVTNAAL DREEVFLYNI
TVTATDKGTP PLSTETIISL NVADTNDNPP TFPHSSYSVY VLENNPRGAS IFSVNALDPD
VDQNAQVSYS LAEDTLQGAP LSSYVSINSD TGILYALRSF DYEQLRDLQL WVTASDSGDP
PLSSNVSLSL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAKPNDSDLT LYLVVAVAAV SCVFLAFVIV LLALRLQRWH
KSRLLQASGG GLASMPGSHF VGVEGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
NQESYEKSEP LLITQDLLET KGEPRQLQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA7

Ensembl transcript ID

ENST00000518325

Genbank transcript ID

NM_018920

UniProt peptide

Q9Y5G6

alteration type

single base exchange

alteration region

intron

DNA changes

g.30541A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	30550	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	30535	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

28117

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

30541

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAQPRGGDY RGFFLLSILL GTPWEAWAGR ILYSVSEETD KGSFVGDIAK DLGLEPRELA
ERGVRIISRG RTQLFALNQR SGSLVTAGRI DREEICAQSA RCLVNFNILM EDKMNLYPID
VEIIDINDNV PRFLTEEINV KIMENTAPGV RFPLSEAGDP DVGTNSLQSY QLSPNRHFSL
AVQSGDDETK YPELVLERVL DREEERVHHL VLTASDGGDP PRSSTAHIQV TVVDVNDHTP
VFSLPQYQVT VPENVPVGTR LLTVHAIDLD EGVNGEVTYS FRKITPKLPK MFHLNSLTGE
ISTLEGLDYE ETAFYEMEVQ AQDGPGSLTK AKVLITVLDV NDNAPEVTMT SLSSSIPEDT
PLGTVIALFY LQDRDSGKNG EVTCTIPENL PFKLEKSIDN YYRLVTTKNL DRETLSLYNI
TLKATDGGTP PLSRETHIFM QVADTNDNPP TFPHSSYSVY IAENNPRGAS IFLVTAQDHD
SEDNAQITYS LAEDTIQGAP VSSYVSINSD TGVLYALQSF DYEQLRELQL RVTAHDSGDP
PLSSNMSLSL FVLDQNDNPP EILYPALPTD GSTGMELAPR SAEPGYLVTK VVAVDKDSGQ
NAWLSYLLLK ASEPGLFAVG LYTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADSIPE VLADLGSLEP SDGPYNYDLT LYLVVAVATV SCVFLAFVLV LLALRLRRWH
KSRLLQASEG GLANVPTSHF VGMDGVQAFL QTYSHEVSLT ADSRKSHLIF PQPNYVDMLI
SQESCEKNDS LLTSVDFQEC KENLPSIQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB4

Ensembl transcript ID

ENST00000519479

Genbank transcript ID

NM_003736

UniProt peptide

Q9UN71

alteration type

single base exchange

alteration region

intron

DNA changes

g.25556A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	25565	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	25550	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

23159

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
711	923	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2546

theoretical NMD boundary in CDS

2495

length of CDS

2772

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

25556

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGSGAGELGR AERLPVLFLF LLSLFCPALC EQIRYRIPEE MPKGSVVGNL ATDLGFSVQE
LPTRKLRVSS EKPYFTVSAE SGELLVSSRL DREEICGKKP ACALEFEAVA ENPLNFYHVN
VEIEDINDHT PKFTQNSFEL QISESAQPGT RFILGSAHDA DIGSNTLQNY QLSPSDHFSL
INKEKSDGSK YPEMVLKTPL DREKQKSYHL TLTALDFGAP PLSSTAQIHV LVTDANDNAP
VFSQDVYRVS LSENVYPGTT VLQVTATDQD EGVNAEITFS FSEASQITQF DLNSNTGEIT
VLNTLDFEEV KEYSIVLEAR DGGGMIAQCT VEVEVIDEND NAPEVIFQSL PNLIMEDAEL
GTHIALLKVR DKDSRHNGEV TCKLEGDVPF KILTSSRNTY KLVTDAVLDR EQNPEYNITV
TATDRGKPPL SSSSSITLHI GDVNDNAPVF SQSSYIVHVA ENNPPGASIS QVRASDPDLG
PNGQVSYCIM ASDLEQRELS SYVSISAESG VVFAQRAFDH EQLRAFELTL QARDQGSPAL
SANVSLRVLV DDRNDNAPRV LYPALGPDGS ALFDMVPHAA EPGYLVTKVV AVDADSGHNA
WLSYHVLQAS EPGLFSLGLR TGEVRTARAL GDRDAVRQRL LVAVRDGGQP PLSATATLHL
VFADSLQEVL PDITDRPDPS DLQAELQFYL VVALALISVL FLVAMILAIA LRLRRSSSPA
SWSCFQPGLC VKSESVVPPN YSEGTLPYSY NLCVAHTGKT EFNFLKCSEQ LSSGQDILCG
DSSGALFPLC NSSELTSHQQ APPNTDWRFS QAQRPGTSGS QNGDDTGTWP NNQFDTEMLQ
AMILASASEA ADGSSTLGGG AGTMGLSARY GPQFTLQHVP DYRQNVYIPG SNATLTNAAG
KRDGKAPAGG NGNKKKSGKK EKK*

mutated AA sequence

N/A

speed

0.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA8

Ensembl transcript ID

ENST00000398604

Genbank transcript ID

NM_032088

UniProt peptide

Q9Y5G5

alteration type

single base exchange

alteration region

intron

DNA changes

g.20627A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	20636	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	20621	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

18203

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

20627

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAPQSRPRR GELILLCALL GTLWEIGRGQ IRYSVPEETD KGSFVGNISK DLGLDPRKLA
KHGVRIVSRG RTQLFALNPR SGSLITAGRI DREELCAQSP RCLININTLV EDKGKLFGVE
IEIIDINDNN PKFQVEDLEV KINEIAVPGA RYPLPEAVDP DVGVNSLQSY QLSPNHHFSL
DVQTGDNGAI NPELVLERAL DREEEAAHHL VLTASDGGKP PRSSTVRIHV TVLDTNDNAP
VFPHPIYRVK VLENMPPGTR LLTVTASDPD EGINGKVAYK FRKINEKQTP LFQLNENTGE
ISIAKSLDYE ECSFYEMEIQ AEDVGALLGR TKLLISVEDV NDNRPEVIIT SLFSPVLENS
LPGTVIAFLS VHDQDSGKNG QVVCYTRDNL PFKLEKSIGN YYRLVTRKYL DRENVSIYNI
TVMASDLGTP PLSTETQIAL HVADINDNPP TFPHASYSAY ILENNLRGAS IFSLTAHDPD
SQENAQVTYS VTEDTLQGAP LSSYISINSD TGVLYALQSF DYEQIRDLQL LVTASDSGDP
PLSSNMSLSL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAERGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADSIPE VLTELGSLKP SVDPNDSSLT LYLVVAVAAI SCVFLAFVAV LLGLRLRRWH
KSRLLQDSGG RLVGVPASHF VGVEEVQAFL QTYSQEVSLT ADSRKSHLIF PQPNYADMLI
SQEGCEKNDS LLTSVDFHEY KNEADHGQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGA9

Ensembl transcript ID

ENST00000573521

Genbank transcript ID

NM_018921

UniProt peptide

Q9Y5G4

alteration type

single base exchange

alteration region

intron

DNA changes

g.10488A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	10497	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	10482	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

8064

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
714	932	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2573

theoretical NMD boundary in CDS

2522

length of CDS

2799

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

10488

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAPTKCQLR GRLVLLCSLL GMLWEARASQ IRYSVPEETE KGYIVGNISK DLALEPRELA
ERRVRIVSRG RTQLFSLNPR SGTLVTAGRI DREELCAQSP RCLVNFKVLV EDRVKLYGIE
IEVTDINDSA PKFQAESLEV KINEIAVPGA RYPLPEAIDP DVGVNSLQSY QLSPNHHFSL
NVQTGDNGAI NPELVLERAL DREEATAHHL VLTASDGGEP RRSSTVRIHV TVLDTNDNAP
VFAQRIYRVK VLENVPPGTW LLTATASDLD EGINGKVAYK FWKINEKQSL LFQLNENTGE
ISTAKSLDYE ECSFYEMEIQ AEDGGGLKGW TKVLISVEDV NDNRPEVTIT SLFSPVREDA
PQGTVILLFN AHDRDSGKNG QVVCSIQENL SFTLENSEED YYRLLTAQIL DREKASEYNI
TVTATDRGTP PLSTEIHITL QVTDINDNPP AFSQASYSVY LPENNARGTS IFSVIAYDPD
SNENSRVIYS LAEDTIQGSP LSTYVSINSD TGVLYALCSF DYEQFRDLQM QVTASDSGSP
PLSSNVSLRL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLFK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAIADSIPD ILADLGSLQI PADLEASDLT LYLVVAVAVV SCVFLTFVIT LLALRLRHWH
SSHLLRATSD GLAGVPTSHF VGVDGVRAFL QTYSQEFSLT ADSRKSHLIF PQPNYADTLI
SQQSCEKNEP LCVSVDSKFP IEDTPLVPQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK*

mutated AA sequence

N/A

speed

0.64 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 9.21994670376815e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140793007A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHGB6

Ensembl transcript ID

ENST00000520790

Genbank transcript ID

NM_018926

UniProt peptide

Q9Y5F9

alteration type

single base exchange

alteration region

intron

DNA changes

g.5238A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4912751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	919	947	1866
ExAC	14948	2871	17819

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.342	0.998
	0.243	0.986
(flanking)	2.96	0.987

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc gained	5247	0.30	mu: GCGGCAGCTTGGTCACCGCGGGCAGGATAGACCGGGAGGAG	gcgg\|GCAG
Donor gained	5232	0.49	mu: GCGGCAGCTTGGTCA	GGCA\|gctt

distance from splice site

2820

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
713	930	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2567

theoretical NMD boundary in CDS

2516

length of CDS

2793

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

5238

chromosomal position
(for ins/del: last normal base / first normal base)

140793007

original gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGATCACCGCGGGCAGGATAGAC

altered gDNA sequence snippet

ACCCGCGCAGCGGCAGCTTGGTCACCGCGGGCAGGATAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGGSCAQRRR AGPRQVLFPL LLPLFYPTLS EPIRYSIPEE LAKGSVVGNL AKDLGLSVLD
VSARKLRVSA EKLHFSVDAE SGDLLVKNRI DREQICKERR RCELQLEAVV ENPLNIFHVI
VVIEDVNDHA PQFDKKEIHL EIFESASAGT RLSLDPATDP DININSIKDY KINSNPYFSL
MVRVNSDGGK YPELSLEKLL DREEQRSHSL ILTALDGGDP PRSATAHIEI SVKDTNDNPP
VFSRDEYRIS LSENLPPGSP VLQVTATDQD EGVNAEINYY FRSTAQSTKH MFSLDEKTGM
IKNNQSFDFE DVERYTMEVE AKDGGGLSTQ CKVIIEILDE NDNSPEIIIT SLSDQILENS
PPGMVVALFK TRDLDFGGNG EVRCNIETDI PFKIYSSSNN YYKLVTDGAL DREQTPEYNV
TIVATDRGKP PLSSSRSITL YVADINDNAP VFDQTSYVVH VAENNPPGAS IAQVSASDPD
LGLNGHISYS IVASDLEPLA VSSYVSVSAQ SGVVFAQRAF DHEQLRAFAL TLQARDHGSP
TLSANVSLRV LVGDRNDNAP RVLYPALGPD GSAFFDMVPR SAEPGYLVTK VVAVDADSGH
NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG QPPLSATATL
HLVFADNLQE ILPDLSDRPV LSDPQAELQF YLVVALALIS VLFLLAVILA IALRLRRSLS
PATWDCFHPG LCVKSGPVVP PNYSEGTLPY SYNLCIAHTG TKEFNFLKCS VPLHSNEDMV
CSVSPGALIP PHGGEDLTSH PETLTSQAPP NTDWRFSQAQ RPGTSGSQNG DDTGTWPNNQ
FDTEMLQAMI LASASEAADG SSTLGGGAGT MGLSARYGPQ FTLQHVPDYR QNVYIPGSNA
TLTNAAGKRD GKAPAGGNGN KKKSGKKEKK *

mutated AA sequence

N/A

speed

0.31 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems