Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000393179
Querying Taster for transcript #2: ENST00000313546
Querying Taster for transcript #3: ENST00000549035
Querying Taster for transcript #4: ENST00000549504
Querying Taster for transcript #5: ENST00000541909
Querying Taster for transcript #6: ENST00000548729
Querying Taster for transcript #7: ENST00000547474
Querying Taster for transcript #8: ENST00000413530
Querying Taster for transcript #9: ENST00000529983
MT speed 0 s - this script 5.073768 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
POC1B-GALNT4polymorphism_automatic0.00139254842540104simple_aaeaffectedI267Tsingle base exchangers2230281show file
GALNT4polymorphism_automatic0.00139254842540104simple_aaeaffectedI270Tsingle base exchangers2230281show file
POC1Bpolymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1Bpolymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1Bpolymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1Bpolymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1Bpolymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1B-GALNT4polymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file
POC1B-GALNT4polymorphism_automatic0.999999999999998without_aaeaffectedsingle base exchangers2230281show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998607451574599 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B-GALNT4
Ensembl transcript ID ENST00000548729
Genbank transcript ID NM_001199781
UniProt peptide Q8N4A0
alteration type single base exchange
alteration region CDS
DNA changes c.800T>C
cDNA.1103T>C
g.2522T>C
AA changes I267T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 267
frameshift no
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2514wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased2516wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased2519wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2523wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 700
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      267IDWNTFEFYMQIGEPMIGGFDWRL
mutated  not conserved    267IDWNTFEFYMQTGEPMIGGFDWR
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000090035  270TFEFYMQTGEPMIGGFDWR
Ggallus  no alignment  ENSGALG00000011215  n/a
Trubripes  not conserved  ENSTRUG00000011585  276IDWNTFEFYMQTEEPMIGGF
Drerio  not conserved  ENSDARG00000012745  275IDWNTFEFYMQTEEPMVGGFDWR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
36578TOPO_DOMLumenal (Potential).lost
303365REGIONCatalytic subdomain B.might get lost (downstream of altered splice site)
444577DOMAINRicin B-type lectin.might get lost (downstream of altered splice site)
457457DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459MUTAGEND->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.might get lost (downstream of altered splice site)
471471CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503DISULFIDBy similarity.might get lost (downstream of altered splice site)
518518DISULFIDBy similarity.might get lost (downstream of altered splice site)
547547DISULFIDBy similarity.might get lost (downstream of altered splice site)
565565DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1728 / 1728
position (AA) of stopcodon in wt / mu AA sequence 576 / 576
position of stopcodon in wt / mu cDNA 2031 / 2031
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 304 / 304
chromosome 12
strand -1
last intron/exon boundary 404
theoretical NMD boundary in CDS 50
length of CDS 1728
coding sequence (CDS) position 800
cDNA position
(for ins/del: last normal base / first normal base)		 1103
gDNA position
(for ins/del: last normal base / first normal base)		 2522
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered cDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
wildtype AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQIGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEVPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*
mutated AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQTGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEVPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*
speed 0.90 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998607451574599 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol GALNT4
Ensembl transcript ID ENST00000529983
Genbank transcript ID NM_003774
UniProt peptide Q8N4A0
alteration type single base exchange
alteration region CDS
DNA changes c.809T>C
cDNA.1066T>C
g.1066T>C
AA changes I270T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 270
frameshift no
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1058wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased1060wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased1067wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
Donor marginally increased1063wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
distance from splice site 1066
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      270IDWNTFEFYMQIGEPMIGGFDWRL
mutated  not conserved    270IDWNTFEFYMQTGEPMIGGFDWR
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000090035  270IDWNTFEFYMQTGEPMIGGFDWR
Ggallus  no alignment  ENSGALG00000011215  n/a
Trubripes  not conserved  ENSTRUG00000011585  276IDWNTFEFYMQTEEPMIGGFDWR
Drerio  not conserved  ENSDARG00000012745  275IDWNTFEFYMQTEEPMVGGFDWR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
36578TOPO_DOMLumenal (Potential).lost
303365REGIONCatalytic subdomain B.might get lost (downstream of altered splice site)
444577DOMAINRicin B-type lectin.might get lost (downstream of altered splice site)
457457DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459MUTAGEND->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.might get lost (downstream of altered splice site)
471471CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503DISULFIDBy similarity.might get lost (downstream of altered splice site)
518518DISULFIDBy similarity.might get lost (downstream of altered splice site)
547547DISULFIDBy similarity.might get lost (downstream of altered splice site)
565565DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1737 / 1737
position (AA) of stopcodon in wt / mu AA sequence 579 / 579
position of stopcodon in wt / mu cDNA 1994 / 1994
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 258 / 258
chromosome 12
strand -1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1737
coding sequence (CDS) position 809
cDNA position
(for ins/del: last normal base / first normal base)		 1066
gDNA position
(for ins/del: last normal base / first normal base)		 1066
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered cDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
wildtype AA sequence MAVRWTWAGK SCLLLAFLTV AYIFVELLVS TFHASAGAGR ARELGSRRLS DLQKNTEDLS
RPLYKKPPAD SRALGEWGKA SKLQLNEDEL KQQEELIERY AINIYLSDRI SLHRHIEDKR
MYECKSQKFN YRTLPTTSVI IAFYNEAWST LLRTIHSVLE TSPAVLLKEI ILVDDLSDRV
YLKTQLETYI SNLDRVRLIR TNKREGLVRA RLIGATFATG DVLTFLDCHC ECNSGWLEPL
LERIGRDETA VVCPVIDTID WNTFEFYMQI GEPMIGGFDW RLTFQWHSVP KQERDRRISR
IDPIRSPTMA GGLFAVSKKY FQYLGTYDTG MEVWGGENLE LSFRVWQCGG KLEIHPCSHV
GHVFPKRAPY ARPNFLQNTA RAAEVWMDEY KEHFYNRNPP ARKEAYGDIS ERKLLRERLR
CKSFDWYLKN VFPNLHVPED RPGWHGAIRS RGISSECLDY NSPDNNPTGA NLSLFGCHGQ
GGNQFFEYTS NKEIRFNSVT ELCAEVPEQK NYVGMQNCPK DGFPVPANII WHFKEDGTIF
HPHSGLCLSA YRTPEGRPDV QMRTCDALDK NQIWSFEK*
mutated AA sequence MAVRWTWAGK SCLLLAFLTV AYIFVELLVS TFHASAGAGR ARELGSRRLS DLQKNTEDLS
RPLYKKPPAD SRALGEWGKA SKLQLNEDEL KQQEELIERY AINIYLSDRI SLHRHIEDKR
MYECKSQKFN YRTLPTTSVI IAFYNEAWST LLRTIHSVLE TSPAVLLKEI ILVDDLSDRV
YLKTQLETYI SNLDRVRLIR TNKREGLVRA RLIGATFATG DVLTFLDCHC ECNSGWLEPL
LERIGRDETA VVCPVIDTID WNTFEFYMQT GEPMIGGFDW RLTFQWHSVP KQERDRRISR
IDPIRSPTMA GGLFAVSKKY FQYLGTYDTG MEVWGGENLE LSFRVWQCGG KLEIHPCSHV
GHVFPKRAPY ARPNFLQNTA RAAEVWMDEY KEHFYNRNPP ARKEAYGDIS ERKLLRERLR
CKSFDWYLKN VFPNLHVPED RPGWHGAIRS RGISSECLDY NSPDNNPTGA NLSLFGCHGQ
GGNQFFEYTS NKEIRFNSVT ELCAEVPEQK NYVGMQNCPK DGFPVPANII WHFKEDGTIF
HPHSGLCLSA YRTPEGRPDV QMRTCDALDK NQIWSFEK*
speed 0.32 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000393179
Genbank transcript ID N/A
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -38) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 615 / 615
chromosome 12
strand -1
last intron/exon boundary 1557
theoretical NMD boundary in CDS 892
length of CDS 1047
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)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN NFSDSVGFAN
FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG NYLITASSDG
TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN FDELHCKGLT
KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP VMDILSFDST
TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES QRSIPLAVTD
ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS*
mutated AA sequence N/A
speed 0.55 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000313546
Genbank transcript ID NM_172240
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 130 / 130
chromosome 12
strand -1
last intron/exon boundary 1462
theoretical NMD boundary in CDS 1282
length of CDS 1437
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)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLATASWDT FLMLWNFKPH ARAYRYVGHK
DVVTSVQFSP HGNLLASASR DRTVRLWIPD KRGKFSEFKA HTAPVRSVDF SADGQFLATA
SEDKSIKVWS MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN
NFSDSVGFAN FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG
NYLITASSDG TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN
FDELHCKGLT KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP
VMDILSFDST TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES
QRSIPLAVTD ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS*
mutated AA sequence N/A
speed 0.65 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000549035
Genbank transcript ID NM_001199777
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -8) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 471 / 471
chromosome 12
strand -1
last intron/exon boundary 1677
theoretical NMD boundary in CDS 1156
length of CDS 1311
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)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLWNFKPHAR AYRYVGHKDV VTSVQFSPHG NLLASASRDR TVRLWIPDKR GKFSEFKAHT
APVRSVDFSA DGQFLATASE DKSIKVWSMY RQRFLYSLYR HTHWVRCAKF SPDGRLIVSC
SEDKTIKIWD TTNKQCVNNF SDSVGFANFV DFNPSGTCIA SAGSDQTVKV WDVRVNKLLQ
HYQVHSGGVN CISFHPSGNY LITASSDGTL KILDLLEGRL IYTLQGHTGP VFTVSFSKGG
ELFASGGADT QVLLWRTNFD ELHCKGLTKR NLKRLHFDSP PHLLDIYPRT PHPHEEKVET
VEINPKLEVI DLQISTPPVM DILSFDSTTT TETSGRTLPD KGEEACGYFL NPSLMSPECL
PTTTKKKTED MSDLPCESQR SIPLAVTDAL EHIMEQLNVL TQTVSILEQR LTLTEDKLKD
CLENQQKLFS AVQQKS*
mutated AA sequence N/A
speed 0.54 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000549504
Genbank transcript ID N/A
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -38) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 205 / 205
chromosome 12
strand -1
last intron/exon boundary 489
theoretical NMD boundary in CDS 234
length of CDS 282
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)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MYRQRFLYSL YRHTHWVRCA KDLSLLFHFQ KVESYLHQEV QTHRSYYGGL TLMNCIVKVL
PKEISKDYIL IHHHIFLIST QEHHIPMRKK LRL*
mutated AA sequence N/A
speed 0.53 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000541909
Genbank transcript ID N/A
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -38) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 324 / 324
chromosome 12
strand -1
last intron/exon boundary 1289
theoretical NMD boundary in CDS 915
length of CDS 687
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)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN NFSDSVGFAN
FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG NYLITASSDG
TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN FDELHCKGLT
KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEDFFLHL LRLIQSLR*
mutated AA sequence N/A
speed 0.26 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B-GALNT4
Ensembl transcript ID ENST00000547474
Genbank transcript ID N/A
UniProt peptide Q8N4A0
alteration type single base exchange
alteration region intron
DNA changes g.2522T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2514wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased2516wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased2519wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2523wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1335TRANSMEMHelical; Signal-anchor for type II membrane protein; (Potential).might get lost (downstream of altered splice site)
36578TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
134243REGIONCatalytic subdomain A.might get lost (downstream of altered splice site)
227227CONFLICTD -> Y (in Ref. 1; CAA69875).might get lost (downstream of altered splice site)
247247CONFLICTD -> Y (in Ref. 1; CAA69875).might get lost (downstream of altered splice site)
303365REGIONCatalytic subdomain B.might get lost (downstream of altered splice site)
444577DOMAINRicin B-type lectin.might get lost (downstream of altered splice site)
457457DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459MUTAGEND->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.might get lost (downstream of altered splice site)
471471CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503DISULFIDBy similarity.might get lost (downstream of altered splice site)
518518DISULFIDBy similarity.might get lost (downstream of altered splice site)
547547DISULFIDBy similarity.might get lost (downstream of altered splice site)
565565DISULFIDBy similarity.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 368 / 368
chromosome 12
strand -1
last intron/exon boundary 468
theoretical NMD boundary in CDS 50
length of CDS 129
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)		 2522
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGKGQADI KN*
mutated AA sequence N/A
speed 0.27 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B-GALNT4
Ensembl transcript ID ENST00000413530
Genbank transcript ID NM_001199782
UniProt peptide Q8N4A0
alteration type single base exchange
alteration region intron
DNA changes g.2522T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2514wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased2516wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased2519wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
Donor marginally increased2523wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
36578TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
134243REGIONCatalytic subdomain A.might get lost (downstream of altered splice site)
227227CONFLICTD -> Y (in Ref. 1; CAA69875).might get lost (downstream of altered splice site)
247247CONFLICTD -> Y (in Ref. 1; CAA69875).might get lost (downstream of altered splice site)
303365REGIONCatalytic subdomain B.might get lost (downstream of altered splice site)
444577DOMAINRicin B-type lectin.might get lost (downstream of altered splice site)
457457DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459MUTAGEND->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.might get lost (downstream of altered splice site)
471471CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503DISULFIDBy similarity.might get lost (downstream of altered splice site)
518518DISULFIDBy similarity.might get lost (downstream of altered splice site)
547547DISULFIDBy similarity.might get lost (downstream of altered splice site)
565565DISULFIDBy similarity.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 108 / 108
chromosome 12
strand -1
last intron/exon boundary 468
theoretical NMD boundary in CDS 310
length of CDS 1221
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)		 2522
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAWCVATADP AHTSRPLFTG LAVSRGSAGH AWSAGFDWAA VVVVTGRRCR SGQTVPGAAR
SPLLPHPLPS PLRVPPPTGA LGRPLPRWPQ PRRTPFWSVI SKATKLRSPP WTSAPTASNL
ERDRRISRID PIRSPTMAGG LFAVSKKYFQ YLGTYDTGME VWGGENLELS FRVWQCGGKL
EIHPCSHVGH VFPKRAPYAR PNFLQNTARA AEVWMDEYKE HFYNRNPPAR KEAYGDISER
KLLRERLRCK SFDWYLKNVF PNLHVPEDRP GWHGAIRSRG ISSECLDYNS PDNNPTGANL
SLFGCHGQGG NQFFEYTSNK EIRFNSVTEL CAEVPEQKNY VGMQNCPKDG FPVPANIIWH
FKEDGTIFHP HSGLCLSAYR TPEGRPDVQM RTCDALDKNQ IWSFEK*
mutated AA sequence N/A
speed 0.57 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
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Problems