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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000407977
Querying Taster for transcript #2: ENST00000583753
Querying Taster for transcript #3: ENST00000584437
Querying Taster for transcript #4: ENST00000577716
Querying Taster for transcript #5: ENST00000581868
Querying Taster for transcript #6: ENST00000500597
MT speed 0 s - this script 5.299637 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
RNF43	polymorphism_automatic	0.00736570713467799	simple_aae				I47V	single base exchange	rs3744093		show file
RNF43	polymorphism_automatic	0.00736570713467799	simple_aae				I47V	single base exchange	rs3744093		show file
RNF43	polymorphism_automatic	0.00736570713467799	simple_aae				I47V	single base exchange	rs3744093		show file
RNF43	polymorphism_automatic	0.00736570713467799	simple_aae				I47V	single base exchange	rs3744093		show file
RNF43	polymorphism_automatic	0.00736570713467799	simple_aae				I47V	single base exchange	rs3744093		show file
RNF43	polymorphism_automatic	0.999999999999679	without_aae					single base exchange	rs3744093		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992634292865322 (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)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000407977

Genbank transcript ID

NM_017763

UniProt peptide

Q68DV7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139A>G
cDNA.860A>G
g.2157A>G

AA changes

I47V Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034322

Mmulatta

all identical

ENSMMUG00000007004

Fcatus

all identical

ENSFCAG00000012267

Mmusculus

all conserved

ENSMUSG00000034177

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

Y47D3B.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	197	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2352 / 2352

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

784 / 784

position of stopcodon in wt / mu cDNA

3073 / 3073

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

722 / 722

chromosome

strand

-1

last intron/exon boundary

3030

theoretical NMD boundary in CDS

2258

length of CDS

2352

coding sequence (CDS) position

139

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

860

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

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered cDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

wildtype AA sequence

MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGLSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*

mutated AA sequence

MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAVIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQSHPLYL CNASDDDNLE PGFISIVKLE SPRRAPRPCL
SLASKARMAG ERGASAVLFD ITEDRAAAEQ LQQPLGLTWP VVLIWGNDAE KLMEFVYKNQ
KAHVRIELKE PPAWPDYDVW ILMTVVGTIF VIILASVLRI RCRPRHSRPD PLQQRTAWAI
SQLATRRYQA SCRQARGEWP DSGSSCSSAP VCAICLEEFS EGQELRVISC LHEFHRNCVD
PWLHQHRTCP LCMFNITEGD SFSQSLGPSR SYQEPGRRLH LIRQHPGHAH YHLPAAYLLG
PSRSAVARPP RPGPFLPSQE PGMGPRHHRF PRAAHPRAPG EQQRLAGAQH PYAQGWGLSH
LQSTSQHPAA CPVPLRRARP PDSSGSGESY CTERSGYLAD GPASDSSSGP CHGSSSDSVV
NCTDISLQGV HGSSSTFCSS LSSDFDPLVY CSPKGDPQRV DMQPSVTSRP RSLDSVVPTG
ETQVSSHVHY HRHRHHHYKK RFQWHGRKPG PETGVPQSRP PIPRTQPQPE PPSPDQQVTR
SNSAAPSGRL SNPQCPRALP EPAPGPVDAS SICPSTSSLF NLQKSSLSAR HPQRKRRGGP
SEPTPGSRPQ DATVHPACQI FPHYTPSVAY PWSPEAHPLI CGPPGLDKRL LPETPGPCYS
NSQPVWLCLT PRQPLEPHPP GEGPSEWSSD TAEGRPCPYP HCQVLSAQPG SEEELEELCE
QAV*

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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992634292865322 (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)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000583753

Genbank transcript ID

N/A

UniProt peptide

Q68DV7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139A>G
cDNA.203A>G
g.2157A>G

AA changes

I47V Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034322

Mmulatta

all identical

ENSMMUG00000007004

Fcatus

all identical

ENSFCAG00000012267

Mmusculus

all conserved

ENSMUSG00000034177

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

Y47D3B.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	197	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2229 / 2229

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

743 / 743

position of stopcodon in wt / mu cDNA

2293 / 2293

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

65 / 65

chromosome

strand

-1

last intron/exon boundary

2250

theoretical NMD boundary in CDS

2135

length of CDS

2229

coding sequence (CDS) position

139

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

203

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

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered cDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

wildtype AA sequence

MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAIIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGLSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*

mutated AA sequence

MSGGHQLQLA ALWPWLLMAT LQAGFGRTGL VLAAAVESER SAEQKAVIRV IPLKMDPTGK
LNLTLEGVFA GVAEITPAEG KLMQARMAGE RGASAVLFDI TEDRAAAEQL QQPLGLTWPV
VLIWGNDAEK LMEFVYKNQK AHVRIELKEP PAWPDYDVWI LMTVVGTIFV IILASVLRIR
CRPRHSRPDP LQQRTAWAIS QLATRRYQAS CRQARGEWPD SGSSCSSAPV CAICLEEFSE
GQELRVISCL HEFHRNCVDP WLHQHRTCPL CMFNITEGDS FSQSLGPSRS YQEPGRRLHL
IRQHPGHAHY HLPAAYLLGP SRSAVARPPR PGPFLPSQEP GMGPRHHRFP RAAHPRAPGE
QQRLAGAQHP YAQGWGLSHL QSTSQHPAAC PVPLRRARPP DSSGSGESYC TERSGYLADG
PASDSSSGPC HGSSSDSVVN CTDISLQGVH GSSSTFCSSL SSDFDPLVYC SPKGDPQRVD
MQPSVTSRPR SLDSVVPTGE TQVSSHVHYH RHRHHHYKKR FQWHGRKPGP ETGVPQSRPP
IPRTQPQPEP PSPDQQVTRS NSAAPSGRLS NPQCPRALPE PAPGPVDASS ICPSTSSLFN
LQKSSLSARH PQRKRRGGPS EPTPGSRPQD ATVHPACQIF PHYTPSVAYP WSPEAHPLIC
GPPGLDKRLL PETPGPCYSN SQPVWLCLTP RQPLEPHPPG EGPSEWSSDT AEGRPCPYPH
CQVLSAQPGS EEELEELCEQ AV*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992634292865322 (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)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000584437

Genbank transcript ID

N/A

UniProt peptide

Q68DV7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139A>G
cDNA.2095A>G
g.2157A>G

AA changes

I47V Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034322

Mmulatta

all identical

ENSMMUG00000007004

Fcatus

all identical

ENSFCAG00000012267

Mmusculus

all conserved

ENSMUSG00000034177

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

Y47D3B.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	197	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2352 / 2352

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

784 / 784

position of stopcodon in wt / mu cDNA

4308 / 4308

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

1957 / 1957

chromosome

strand

-1

last intron/exon boundary

4265

theoretical NMD boundary in CDS

2258

length of CDS

2352

coding sequence (CDS) position

139

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

2095

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

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered cDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

wildtype AA sequence

mutated AA sequence

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992634292865322 (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)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000577716

Genbank transcript ID

N/A

UniProt peptide

Q68DV7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139A>G
cDNA.887A>G
g.2157A>G

AA changes

I47V Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034322

Mmulatta

all identical

ENSMMUG00000007004

Fcatus

all identical

ENSFCAG00000012267

Mmusculus

all conserved

ENSMUSG00000034177

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

Y47D3B.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	197	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2352 / 2352

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

784 / 784

position of stopcodon in wt / mu cDNA

3100 / 3100

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

749 / 749

chromosome

strand

-1

last intron/exon boundary

3057

theoretical NMD boundary in CDS

2258

length of CDS

2352

coding sequence (CDS) position

139

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

887

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

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered cDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

wildtype AA sequence

mutated AA sequence

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.992634292865322 (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)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000500597

Genbank transcript ID

N/A

UniProt peptide

Q68DV7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139A>G
cDNA.627A>G
g.2157A>G

AA changes

I47V Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

114

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000034322

Mmulatta

all identical

ENSMMUG00000007004

Fcatus

all identical

ENSFCAG00000012267

Mmusculus

all conserved

ENSMUSG00000034177

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

Y47D3B.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	197	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2229 / 2229

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

743 / 743

position of stopcodon in wt / mu cDNA

2717 / 2717

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

489 / 489

chromosome

strand

-1

last intron/exon boundary

2674

theoretical NMD boundary in CDS

2135

length of CDS

2229

coding sequence (CDS) position

139

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

627

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

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered cDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

wildtype AA sequence

mutated AA sequence

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.21222635679473e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:56492800T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF43

Ensembl transcript ID

ENST00000581868

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2157A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3744093

database	homozygous (C/C)	heterozygous	allele carriers
1000G	417	1038	1455
ExAC	10490	11787	22277

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.872	1
	0.617	0.997
(flanking)	0.081	0.995

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	2160	wt: 0.8707 / mu: 0.9096 (marginal change - not scored)	wt: CTATTATCAGAGTGA mu: CTGTTATCAGAGTGA	ATTA\|tcag
Donor marginally increased	2148	wt: 0.9476 / mu: 0.9644 (marginal change - not scored)	wt: CAGAACAGAAAGCTA mu: CAGAACAGAAAGCTG	GAAC\|agaa

distance from splice site

1578

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

199 / 199

chromosome

strand

-1

last intron/exon boundary

770

theoretical NMD boundary in CDS

521

length of CDS

2229

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)

2157

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

56492800

original gDNA sequence snippet

GATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTG

altered gDNA sequence snippet

GATCAGCAGAACAGAAAGCTGTTATCAGAGTGATCCCCTTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAGERGASAV LFDITEDRAA AEQLQQPLGL TWPVVLIWGN DAEKLMEFVY KNQKAHVRIE
LKEPPAWPDY DVWILMTVVG TIFVIILASV LRIRCRPRHS RPDPLQQRTA WAISQLATRR
YQASCRQARG EWPDSGSSCS SAPVCAICLE EFSEGQELRV ISCLHEFHRN CVDPWLHQHR
TCPLCMFNIT EGDSFSQSLG PSRSYQEPGR RLHLIRQHPG HAHYHLPAAY LLGPSRSAVA
RPPRPGPFLP SQEPGMGPRH HRFPRAAHPR APGEQQRLAG AQHPYAQGWG LSHLQSTSQH
PAACPVPLRR ARPPDSSGSG ESYCTERSGY LADGPASDSS SGPCHGSSSD SVVNCTDISL
QGVHGSSSTF CSSLSSDFDP LVYCSPKGDP QRVDMQPSVT SRPRSLDSVV PTGETQVSSH
VHYHRHRHHH YKKRFQWHGR KPGPETGVPQ SRPPIPRTQP QPEPPSPDQQ VTRSNSAAPS
GRLSNPQCPR ALPEPAPGPV DASSICPSTS SLFNLQKSSL SARHPQRKRR GGPSEPTPGS
RPQDATVHPA CQIFPHYTPS VAYPWSPEAH PLICGPPGLD KRLLPETPGP CYSNSQPVWL
CLTPRQPLEP HPPGEGPSEW SSDTAEGRPC PYPHCQVLSA QPGEFSEGSG CGRERRLQLN
ISGQVKSANK GLMEAEKDTA EMTTKILNHR DSVSCWLECR NTPPLPGATP LVGRSQGGPR
EVLVWLRHQK GTWKAGCDGS CL*

mutated AA sequence

N/A

speed

0.77 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

Problems