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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000574788
Querying Taster for transcript #2: ENST00000250066
Querying Taster for transcript #3: ENST00000332776
Querying Taster for transcript #4: ENST00000304328
MT speed 0 s - this script 5.653579 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
USP6	polymorphism_automatic	2.15405471237773e-12	simple_aae				W475R	single base exchange	rs8073787		show file
USP6	polymorphism_automatic	2.15405471237773e-12	simple_aae				W475R	single base exchange	rs8073787		show file
USP6	polymorphism_automatic	3.57702756303979e-12	simple_aae				W158R	single base exchange	rs8073787		show file
USP6	polymorphism_automatic	4.53304060954451e-12	simple_aae				W475R	single base exchange	rs8073787		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997846 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:5042894T>CN/A show variant in all transcripts IGV

HGNC symbol

USP6

Ensembl transcript ID

ENST00000574788

Genbank transcript ID

N/A

UniProt peptide

P35125

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1423T>C
cDNA.3653T>C
g.23162T>C

AA changes

W475R Score: 101 explain score(s)

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

475

frameshift

known variant

Reference ID: rs8073787

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1560	761	2321
ExAC	26683	-20599	6084

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.554	0.001
	-1.182	0.001
(flanking)	-1.25	0.004

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 marginally increased	23154	wt: 0.9244 / mu: 0.9488 (marginal change - not scored)	wt: CCCTTGGTTCCCCCATTATGATTTTGAATGGAGCTGCTGGG mu: CCCTTGGTTCCCCCATTATGATTTTGAACGGAGCTGCTGGG	atga\|TTTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

475

mutated

not conserved

475

Ptroglodytes

all identical

ENSPTRG00000008624

475

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000009074

n/a

Mmusculus

no alignment

ENSMUSG00000000804

n/a

Ggallus

no alignment

ENSGALG00000005350

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000061895

n/a

Dmelanogaster

no alignment

FBgn0036913

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000013503

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4221 / 4221

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

1407 / 1407

position of stopcodon in wt / mu cDNA

6451 / 6451

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

2231 / 2231

chromosome

strand

last intron/exon boundary

6278

theoretical NMD boundary in CDS

3997

length of CDS

4221

coding sequence (CDS) position

1423

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

3653

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

23162

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

5042894

original gDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered gDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

original cDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered cDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

wildtype AA sequence

MDMVENADSL QAQERKDILM KYDKGHRAGL PEDKGPEPVG INSSIDRFGI LHETELPPVT
AREAKKIRRE MTRTSKWMEM LGEWETYKHS SKLIDRVYKG IPMNIRGPVW SVLLNIQEIK
LKNPGRYQIM KERGKRSSEH IHHIDLDVRT TLRNHVFFRD RYGAKQRELF YILLAYSEYN
PEVGYCRDLS HITALFLLYL PEEDAFWALV QLLASERHSL PGFHSPNGGT VQGLQDQQEH
VVPKSQPKTM WHQDKEGLCG QCASLGCLLR NLIDGISLGL TLRLWDVYLV EGEQVLMPIT
SIALKVQQKR LMKTSRCGLW ARLRNQFFDT WAMNDDTVLK HLRASTKKLT RKQGDLPPPA
KREQGSLAPR PVPASRGGKT LCKGYRQAPP GPPAQFQRPI CSASPPWASR FSTPCPGGAV
REDTYPVGTQ GVPSLALAQG GPQGSWRFLE WKSMPRLPTD LDIGGPWFPH YDFEWSCWVR
AISQEDQLAT CWQAEHCGEV HNKDMSWPEE MSFTANSSKI DRQKVPTEKG ATGLSNLGNT
CFMNSSIQCV SNTQPLTQYF ISGRHLYELN RTNPIGMKGH MAKCYGDLVQ ELWSGTQKSV
APLKLRRTIA KYAPKFDGFQ QQDSQELLAF LLDGLHEDLN RVHEKPYVEL KDSDGRPDWE
VAAEAWDNHL RRNRSIIVDL FHGQLRSQVK CKTCGHISVR FDPFNFLSLP LPMDSYMDLE
ITVIKLDGTT PVRYGLRLNM DEKYTGLKKQ LRDLCGLNSE QILLAEVHDS NIKNFPQDNQ
KVQLSVSGFL CAFEIPVPSS PISASSPTQI DFSSSPSTNG MFTLTTNGDL PKPIFIPNGM
PNTVVPCGTE KNFTNGMVNG HMPSLPDSPF TGYIIAVHRK MMRTELYFLS PQENRPSLFG
MPLIVPCTVH TRKKDLYDAV WIQVSWLARP LPPQEASIHA QDRDNCMGYQ YPFTLRVVQK
DGNSCAWCPQ YRFCRGCKID CGEDRAFIGN AYIAVDWHPT ALHLRYQTSQ ERVVDKHESV
EQSRRAQAEP INLDSCLRAF TSEEELGESE MYYCSKCKTH CLATKKLDLW RLPPFLIIHL
KRFQFVNDQW IKSQKIVRFL RESFDPSAFL VPRDPALCQH KPLTPQGDEL SKPRILAREV
KKVDAQSSAG KEDMLLSKSP SSLSANISSS PKGSPSSSRK SGTSCPSSKN SSPNSSPRTL
GRSKGRLRLP QIGSKNKPSS SKKNLDASKE NGAGQICELA DALSRGHMRG GSQPELVTPQ
DHEVALANGF LYEHEACGNG CGDGYSNGQL GNHSEEDSTD DQREDTHIKP IYNLYAISCH
SGILSGGHYI TYAKNPNCKW YCYNDSSCEE LHPDEIDTDS AYILFYEQQG IDYAQFLPKI
DGKKMADTSS TDEDSESDYE KYSMLQ*

mutated AA sequence

MDMVENADSL QAQERKDILM KYDKGHRAGL PEDKGPEPVG INSSIDRFGI LHETELPPVT
AREAKKIRRE MTRTSKWMEM LGEWETYKHS SKLIDRVYKG IPMNIRGPVW SVLLNIQEIK
LKNPGRYQIM KERGKRSSEH IHHIDLDVRT TLRNHVFFRD RYGAKQRELF YILLAYSEYN
PEVGYCRDLS HITALFLLYL PEEDAFWALV QLLASERHSL PGFHSPNGGT VQGLQDQQEH
VVPKSQPKTM WHQDKEGLCG QCASLGCLLR NLIDGISLGL TLRLWDVYLV EGEQVLMPIT
SIALKVQQKR LMKTSRCGLW ARLRNQFFDT WAMNDDTVLK HLRASTKKLT RKQGDLPPPA
KREQGSLAPR PVPASRGGKT LCKGYRQAPP GPPAQFQRPI CSASPPWASR FSTPCPGGAV
REDTYPVGTQ GVPSLALAQG GPQGSWRFLE WKSMPRLPTD LDIGGPWFPH YDFERSCWVR
AISQEDQLAT CWQAEHCGEV HNKDMSWPEE MSFTANSSKI DRQKVPTEKG ATGLSNLGNT
CFMNSSIQCV SNTQPLTQYF ISGRHLYELN RTNPIGMKGH MAKCYGDLVQ ELWSGTQKSV
APLKLRRTIA KYAPKFDGFQ QQDSQELLAF LLDGLHEDLN RVHEKPYVEL KDSDGRPDWE
VAAEAWDNHL RRNRSIIVDL FHGQLRSQVK CKTCGHISVR FDPFNFLSLP LPMDSYMDLE
ITVIKLDGTT PVRYGLRLNM DEKYTGLKKQ LRDLCGLNSE QILLAEVHDS NIKNFPQDNQ
KVQLSVSGFL CAFEIPVPSS PISASSPTQI DFSSSPSTNG MFTLTTNGDL PKPIFIPNGM
PNTVVPCGTE KNFTNGMVNG HMPSLPDSPF TGYIIAVHRK MMRTELYFLS PQENRPSLFG
MPLIVPCTVH TRKKDLYDAV WIQVSWLARP LPPQEASIHA QDRDNCMGYQ YPFTLRVVQK
DGNSCAWCPQ YRFCRGCKID CGEDRAFIGN AYIAVDWHPT ALHLRYQTSQ ERVVDKHESV
EQSRRAQAEP INLDSCLRAF TSEEELGESE MYYCSKCKTH CLATKKLDLW RLPPFLIIHL
KRFQFVNDQW IKSQKIVRFL RESFDPSAFL VPRDPALCQH KPLTPQGDEL SKPRILAREV
KKVDAQSSAG KEDMLLSKSP SSLSANISSS PKGSPSSSRK SGTSCPSSKN SSPNSSPRTL
GRSKGRLRLP QIGSKNKPSS SKKNLDASKE NGAGQICELA DALSRGHMRG GSQPELVTPQ
DHEVALANGF LYEHEACGNG CGDGYSNGQL GNHSEEDSTD DQREDTHIKP IYNLYAISCH
SGILSGGHYI TYAKNPNCKW YCYNDSSCEE LHPDEIDTDS AYILFYEQQG IDYAQFLPKI
DGKKMADTSS TDEDSESDYE KYSMLQ*

speed

0.89 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: simple_aae, prob: 0.999999999997846 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:5042894T>CN/A show variant in all transcripts IGV

HGNC symbol

USP6

Ensembl transcript ID

ENST00000250066

Genbank transcript ID

NM_004505

UniProt peptide

P35125

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1423T>C
cDNA.3122T>C
g.23162T>C

AA changes

W475R Score: 101 explain score(s)

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

475

frameshift

known variant

Reference ID: rs8073787

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1560	761	2321
ExAC	26683	-20599	6084

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.554	0.001
	-1.182	0.001
(flanking)	-1.25	0.004

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 marginally increased	23154	wt: 0.9244 / mu: 0.9488 (marginal change - not scored)	wt: CCCTTGGTTCCCCCATTATGATTTTGAATGGAGCTGCTGGG mu: CCCTTGGTTCCCCCATTATGATTTTGAACGGAGCTGCTGGG	atga\|TTTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

475

mutated

not conserved

475

Ptroglodytes

all identical

ENSPTRG00000008624

475

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000009074

n/a

Mmusculus

no alignment

ENSMUSG00000000804

n/a

Ggallus

no alignment

ENSGALG00000005350

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000061895

n/a

Dmelanogaster

no alignment

FBgn0036913

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000013503

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4221 / 4221

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

1407 / 1407

position of stopcodon in wt / mu cDNA

5920 / 5920

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

1700 / 1700

chromosome

strand

last intron/exon boundary

5747

theoretical NMD boundary in CDS

3997

length of CDS

4221

coding sequence (CDS) position

1423

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

3122

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

23162

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

5042894

original gDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered gDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

original cDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered cDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

wildtype AA sequence

mutated AA sequence

MDMVENADSL QAQERKDILM KYDKGHRAGL PEDKGPEPVG INSSIDRFGI LHETELPPVT
AREAKKIRRE MTRTSKWMEM LGEWETYKHS SKLIDRVYKG IPMNIRGPVW SVLLNIQEIK
LKNPGRYQIM KERGKRSSEH IHHIDLDVRT TLRNHVFFRD RYGAKQRELF YILLAYSEYN
PEVGYCRDLS HITALFLLYL PEEDAFWALV QLLASERHSL PGFHSPNGGT VQGLQDQQEH
VVPKSQPKTM WHQDKEGLCG QCASLGCLLR NLIDGISLGL TLRLWDVYLV EGEQVLMPIT
SIALKVQQKR LMKTSRCGLW ARLRNQFFDT WAMNDDTVLK HLRASTKKLT RKQGDLPPPA
KREQGSLAPR PVPASRGGKT LCKGYRQAPP GPPAQFQRPI CSASPPWASR FSTPCPGGAV
REDTYPVGTQ GVPSLALAQG GPQGSWRFLE WKSMPRLPTD LDIGGPWFPH YDFERSCWVR
AISQEDQLAT CWQAEHCGEV HNKDMSWPEE MSFTANSSKI DRQKVPTEKG ATGLSNLGNT
CFMNSSIQCV SNTQPLTQYF ISGRHLYELN RTNPIGMKGH MAKCYGDLVQ ELWSGTQKSV
APLKLRRTIA KYAPKFDGFQ QQDSQELLAF LLDGLHEDLN RVHEKPYVEL KDSDGRPDWE
VAAEAWDNHL RRNRSIIVDL FHGQLRSQVK CKTCGHISVR FDPFNFLSLP LPMDSYMDLE
ITVIKLDGTT PVRYGLRLNM DEKYTGLKKQ LRDLCGLNSE QILLAEVHDS NIKNFPQDNQ
KVQLSVSGFL CAFEIPVPSS PISASSPTQI DFSSSPSTNG MFTLTTNGDL PKPIFIPNGM
PNTVVPCGTE KNFTNGMVNG HMPSLPDSPF TGYIIAVHRK MMRTELYFLS PQENRPSLFG
MPLIVPCTVH TRKKDLYDAV WIQVSWLARP LPPQEASIHA QDRDNCMGYQ YPFTLRVVQK
DGNSCAWCPQ YRFCRGCKID CGEDRAFIGN AYIAVDWHPT ALHLRYQTSQ ERVVDKHESV
EQSRRAQAEP INLDSCLRAF TSEEELGESE MYYCSKCKTH CLATKKLDLW RLPPFLIIHL
KRFQFVNDQW IKSQKIVRFL RESFDPSAFL VPRDPALCQH KPLTPQGDEL SKPRILAREV
KKVDAQSSAG KEDMLLSKSP SSLSANISSS PKGSPSSSRK SGTSCPSSKN SSPNSSPRTL
GRSKGRLRLP QIGSKNKPSS SKKNLDASKE NGAGQICELA DALSRGHMRG GSQPELVTPQ
DHEVALANGF LYEHEACGNG CGDGYSNGQL GNHSEEDSTD DQREDTHIKP IYNLYAISCH
SGILSGGHYI TYAKNPNCKW YCYNDSSCEE LHPDEIDTDS AYILFYEQQG IDYAQFLPKI
DGKKMADTSS TDEDSESDYE KYSMLQ*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996423 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:5042894T>CN/A show variant in all transcripts IGV

HGNC symbol

USP6

Ensembl transcript ID

ENST00000304328

Genbank transcript ID

N/A

UniProt peptide

P35125

alteration type

single base exchange

alteration region

CDS

DNA changes

c.472T>C
cDNA.3333T>C
g.23162T>C

AA changes

W158R Score: 101 explain score(s)

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

158

frameshift

known variant

Reference ID: rs8073787

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1560	761	2321
ExAC	26683	-20599	6084

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.554	0.001
	-1.182	0.001
(flanking)	-1.25	0.004

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 marginally increased	23154	wt: 0.9244 / mu: 0.9488 (marginal change - not scored)	wt: CCCTTGGTTCCCCCATTATGATTTTGAATGGAGCTGCTGGG mu: CCCTTGGTTCCCCCATTATGATTTTGAACGGAGCTGCTGGG	atga\|TTTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

158

mutated

not conserved

158

Ptroglodytes

all identical

ENSPTRG00000008624

475

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000009074

n/a

Mmusculus

no alignment

ENSMUSG00000000804

n/a

Ggallus

no alignment

ENSGALG00000005350

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000061895

n/a

Dmelanogaster

no alignment

FBgn0036913

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000013503

n/a

protein features

start (aa)	end (aa)	feature	details
100	292	DOMAIN	Rab-GAP TBC.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3270 / 3270

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

1090 / 1090

position of stopcodon in wt / mu cDNA

6131 / 6131

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

2862 / 2862

chromosome

strand

last intron/exon boundary

5958

theoretical NMD boundary in CDS

3046

length of CDS

3270

coding sequence (CDS) position

472

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

3333

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

23162

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

5042894

original gDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered gDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

original cDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered cDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

wildtype AA sequence

MPQRLPHARQ HTPLPLGSAD YRRVVSVRPQ GPHRDPKDSR DAAKREQGSL APRPVPASRG
GKTLCKGYRQ APPGPPAQFQ RPICSASPPW ASRFSTPCPG GAVREDTYPV GTQGVPSLAL
AQGGPQGSWR FLEWKSMPRL PTDLDIGGPW FPHYDFEWSC WVRAISQEDQ LATCWQAEHC
GEVHNKDMSW PEEMSFTANS SKIDRQKVPT EKGATGLSNL GNTCFMNSSI QCVSNTQPLT
QYFISGRHLY ELNRTNPIGM KGHMAKCYGD LVQELWSGTQ KSVAPLKLRR TIAKYAPKFD
GFQQQDSQEL LAFLLDGLHE DLNRVHEKPY VELKDSDGRP DWEVAAEAWD NHLRRNRSII
VDLFHGQLRS QVKCKTCGHI SVRFDPFNFL SLPLPMDSYM DLEITVIKLD GTTPVRYGLR
LNMDEKYTGL KKQLRDLCGL NSEQILLAEV HDSNIKNFPQ DNQKVQLSVS GFLCAFEIPV
PSSPISASSP TQIDFSSSPS TNGMFTLTTN GDLPKPIFIP NGMPNTVVPC GTEKNFTNGM
VNGHMPSLPD SPFTGYIIAV HRKMMRTELY FLSPQENRPS LFGMPLIVPC TVHTRKKDLY
DAVWIQVSWL ARPLPPQEAS IHAQDRDNCM GYQYPFTLRV VQKDGNSCAW CPQYRFCRGC
KIDCGEDRAF IGNAYIAVDW HPTALHLRYQ TSQERVVDKH ESVEQSRRAQ AEPINLDSCL
RAFTSEEELG ESEMYYCSKC KTHCLATKKL DLWRLPPFLI IHLKRFQFVN DQWIKSQKIV
RFLRESFDPS AFLVPRDPAL CQHKPLTPQG DELSKPRILA REVKKVDAQS SAGKEDMLLS
KSPSSLSANI SSSPKGSPSS SRKSGTSCPS SKNSSPNSSP RTLGRSKGRL RLPQIGSKNK
PSSSKKNLDA SKENGAGQIC ELADALSRGH MRGGSQPELV TPQDHEVALA NGFLYEHEAC
GNGCGDGYSN GQLGNHSEED STDDQREDTH IKPIYNLYAI SCHSGILSGG HYITYAKNPN
CKWYCYNDSS CEELHPDEID TDSAYILFYE QQGIDYAQFL PKIDGKKMAD TSSTDEDSES
DYEKYSMLQ*

mutated AA sequence

MPQRLPHARQ HTPLPLGSAD YRRVVSVRPQ GPHRDPKDSR DAAKREQGSL APRPVPASRG
GKTLCKGYRQ APPGPPAQFQ RPICSASPPW ASRFSTPCPG GAVREDTYPV GTQGVPSLAL
AQGGPQGSWR FLEWKSMPRL PTDLDIGGPW FPHYDFERSC WVRAISQEDQ LATCWQAEHC
GEVHNKDMSW PEEMSFTANS SKIDRQKVPT EKGATGLSNL GNTCFMNSSI QCVSNTQPLT
QYFISGRHLY ELNRTNPIGM KGHMAKCYGD LVQELWSGTQ KSVAPLKLRR TIAKYAPKFD
GFQQQDSQEL LAFLLDGLHE DLNRVHEKPY VELKDSDGRP DWEVAAEAWD NHLRRNRSII
VDLFHGQLRS QVKCKTCGHI SVRFDPFNFL SLPLPMDSYM DLEITVIKLD GTTPVRYGLR
LNMDEKYTGL KKQLRDLCGL NSEQILLAEV HDSNIKNFPQ DNQKVQLSVS GFLCAFEIPV
PSSPISASSP TQIDFSSSPS TNGMFTLTTN GDLPKPIFIP NGMPNTVVPC GTEKNFTNGM
VNGHMPSLPD SPFTGYIIAV HRKMMRTELY FLSPQENRPS LFGMPLIVPC TVHTRKKDLY
DAVWIQVSWL ARPLPPQEAS IHAQDRDNCM GYQYPFTLRV VQKDGNSCAW CPQYRFCRGC
KIDCGEDRAF IGNAYIAVDW HPTALHLRYQ TSQERVVDKH ESVEQSRRAQ AEPINLDSCL
RAFTSEEELG ESEMYYCSKC KTHCLATKKL DLWRLPPFLI IHLKRFQFVN DQWIKSQKIV
RFLRESFDPS AFLVPRDPAL CQHKPLTPQG DELSKPRILA REVKKVDAQS SAGKEDMLLS
KSPSSLSANI SSSPKGSPSS SRKSGTSCPS SKNSSPNSSP RTLGRSKGRL RLPQIGSKNK
PSSSKKNLDA SKENGAGQIC ELADALSRGH MRGGSQPELV TPQDHEVALA NGFLYEHEAC
GNGCGDGYSN GQLGNHSEED STDDQREDTH IKPIYNLYAI SCHSGILSGG HYITYAKNPN
CKWYCYNDSS CEELHPDEID TDSAYILFYE QQGIDYAQFL PKIDGKKMAD TSSTDEDSES
DYEKYSMLQ*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995467 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:5042894T>CN/A show variant in all transcripts IGV

HGNC symbol

USP6

Ensembl transcript ID

ENST00000332776

Genbank transcript ID

N/A

UniProt peptide

P35125

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1423T>C
cDNA.3653T>C
g.23162T>C

AA changes

W475R Score: 101 explain score(s)

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

475

frameshift

known variant

Reference ID: rs8073787

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1560	761	2321
ExAC	26683	-20599	6084

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.554	0.001
	-1.182	0.001
(flanking)	-1.25	0.004

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 marginally increased	23154	wt: 0.9244 / mu: 0.9488 (marginal change - not scored)	wt: CCCTTGGTTCCCCCATTATGATTTTGAATGGAGCTGCTGGG mu: CCCTTGGTTCCCCCATTATGATTTTGAACGGAGCTGCTGGG	atga\|TTTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

475

mutated

not conserved

475

Ptroglodytes

all identical

ENSPTRG00000008624

475

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000009074

n/a

Mmusculus

no alignment

ENSMUSG00000000804

n/a

Ggallus

no alignment

ENSGALG00000005350

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000061895

n/a

Dmelanogaster

not conserved

FBgn0036913

1506

WVKSQKVVH

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000013503

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2361 / 2361

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

787 / 787

position of stopcodon in wt / mu cDNA

4591 / 4591

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

2231 / 2231

chromosome

strand

last intron/exon boundary

6166

theoretical NMD boundary in CDS

3885

length of CDS

2361

coding sequence (CDS) position

1423

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

3653

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

23162

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

5042894

original gDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered gDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

original cDNA sequence snippet

TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC

altered cDNA sequence snippet

TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC

wildtype AA sequence

mutated AA sequence

speed

1.40 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

Problems