mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (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)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000264344

Genbank transcript ID

NM_001265578

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2305G>A
cDNA.2513G>A
g.363691G>A

AA changes

V769I Score: 29 explain score(s)

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

769

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor marginally increased	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

769

mutated

all conserved

769

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

767

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3072 / 3072

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

1024 / 1024

position of stopcodon in wt / mu cDNA

3280 / 3280

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

209 / 209

chromosome

strand

-1

last intron/exon boundary

3154

theoretical NMD boundary in CDS

2895

length of CDS

3072

coding sequence (CDS) position

2305

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

2513

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER QGLTENGIPA
VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV PVELGKDGDV CSAASLLKLF
LRELPDSLIT SALQPRFIQL FQDGRNDVQE SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK
HHVQNRMNVH NLATVFGPNC FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH
LRCENLARLI IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS AHVPQVSNVS
ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS SATSARQRRR QSKEQDEVRH
GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA GERSKPKRQK SSTKLSELHD
NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD
TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS SSLGSYDDEQ
EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA ANPEVLKWTN DLAKFRRQLK
ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL VDKAIKPSVE ATLESIQRKL
QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL
VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE LLEHLQEMRE
EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK HIKAKLRLLE VLISKRDTDS
KSM*

mutated AA sequence

MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER QGLTENGIPA
VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV PVELGKDGDV CSAASLLKLF
LRELPDSLIT SALQPRFIQL FQDGRNDVQE SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK
HHVQNRMNVH NLATVFGPNC FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH
LRCENLARLI IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS AHVPQVSNVS
ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS SATSARQRRR QSKEQDEVRH
GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA GERSKPKRQK SSTKLSELHD
NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD
TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS SSLGSYDDEQ
EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA ANPEVLKWTN DLAKFRRQLK
ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL VDKAIKPSIE ATLESIQRKL
QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL
VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE LLEHLQEMRE
EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK HIKAKLRLLE VLISKRDTDS
KSM*

speed

1.11 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