MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000266087
MT speed 1.25 s - this script 3.303566 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FBXO7	disease_causing_automatic	0.990438636141926	simple_aae			0	T22M	single base exchange	rs121918305		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.990438636141926 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM090209)
known disease mutation: rs4811 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr22:32871054C>TN/A show variant in all transcripts IGV

HGNC symbol

FBXO7

Ensembl transcript ID

ENST00000266087

Genbank transcript ID

NM_012179

UniProt peptide

Q9Y3I1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.65C>T
cDNA.392C>T
g.392C>T

AA changes

T22M Score: 81 explain score(s)

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

frameshift

known variant

Reference ID: rs121918305
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs4811 (pathogenic for Parkinson disease 15) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090209)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090209)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090209)

regulatory features

ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.784	1
	1.954	1
(flanking)	0.241	1

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000014290

Mmulatta

no alignment

ENSMMUG00000006728

n/a

Fcatus

no alignment

ENSFCAG00000009802

n/a

Mmusculus

all identical

ENSMUSG00000001786

Ggallus

all identical

ENSGALG00000012569

Trubripes

all conserved

ENSTRUG00000000564

Drerio

all conserved

ENSDARG00000059115

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011520

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1569 / 1569

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

523 / 523

position of stopcodon in wt / mu cDNA

1896 / 1896

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

328 / 328

chromosome

strand

last intron/exon boundary

1510

theoretical NMD boundary in CDS

1132

length of CDS

1569

coding sequence (CDS) position

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

392

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

392

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

32871054

original gDNA sequence snippet

GGTGCCCGAGACGGAGCCGACGCTGGGGCATTTGCGCTCGC

altered gDNA sequence snippet

GGTGCCCGAGACGGAGCCGATGCTGGGGCATTTGCGCTCGC

original cDNA sequence snippet

GGTGCCCGAGACGGAGCCGACGCTGGGGCATTTGCGCTCGC

altered cDNA sequence snippet

GGTGCCCGAGACGGAGCCGATGCTGGGGCATTTGCGCTCGC

wildtype AA sequence

MRLRVRLLKR TWPLEVPETE PTLGHLRSHL RQSLLCTWGY SSNTRFTITL NYKDPLTGDE
ETLASYGIVS GDLICLILQD DIPAPNIPSS TDSEHSSLQN NEQPSLATSS NQTSMQDEQP
SDSFQGQAAQ SGVWNDDSML GPSQNFEAES IQDNAHMAEG TGFYPSEPML CSESVEGQVP
HSLETLYQSA DCSDANDALI VLIHLLMLES GYIPQGTEAK ALSMPEKWKL SGVYKLQYMH
PLCEGSSATL TCVPLGNLIV VNATLKINNE IRSVKRLQLL PESFICKEKL GENVANIYKD
LQKLSRLFKD QLVYPLLAFT RQALNLPDVF GLVVLPLELK LRIFRLLDVR SVLSLSAVCR
DLFTASNDPL LWRFLYLRDF RDNTVRVQDT DWKELYRKRH IQRKESPKGR FVMLLPSSTH
TIPFYPNPLH PRPFPSSRLP PGIIGGEYDQ RPTLPYVGDP ISSLIPGPGE TPSQFPPLRP
RFDPVGPLPG PNPILPGRGG PNDRFPFRPS RGRPTDGRLS FM*

mutated AA sequence

MRLRVRLLKR TWPLEVPETE PMLGHLRSHL RQSLLCTWGY SSNTRFTITL NYKDPLTGDE
ETLASYGIVS GDLICLILQD DIPAPNIPSS TDSEHSSLQN NEQPSLATSS NQTSMQDEQP
SDSFQGQAAQ SGVWNDDSML GPSQNFEAES IQDNAHMAEG TGFYPSEPML CSESVEGQVP
HSLETLYQSA DCSDANDALI VLIHLLMLES GYIPQGTEAK ALSMPEKWKL SGVYKLQYMH
PLCEGSSATL TCVPLGNLIV VNATLKINNE IRSVKRLQLL PESFICKEKL GENVANIYKD
LQKLSRLFKD QLVYPLLAFT RQALNLPDVF GLVVLPLELK LRIFRLLDVR SVLSLSAVCR
DLFTASNDPL LWRFLYLRDF RDNTVRVQDT DWKELYRKRH IQRKESPKGR FVMLLPSSTH
TIPFYPNPLH PRPFPSSRLP PGIIGGEYDQ RPTLPYVGDP ISSLIPGPGE TPSQFPPLRP
RFDPVGPLPG PNPILPGRGG PNDRFPFRPS RGRPTDGRLS FM*

speed

1.25 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

Problems