Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000409280
Querying Taster for transcript #2: ENST00000283905
MT speed 0 s - this script 4.108743 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
C7orf31polymorphism_automatic0.304830435579903simple_aaeaffectedT187Ssingle base exchangers2523072show file
C7orf31polymorphism_automatic0.304830435579903simple_aaeaffectedT187Ssingle base exchangers2523072show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.695169564420097 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:25194665G>CN/A show variant in all transcripts   IGV
HGNC symbol C7orf31
Ensembl transcript ID ENST00000409280
Genbank transcript ID NM_138811
UniProt peptide Q8N865
alteration type single base exchange
alteration region CDS
DNA changes c.560C>G
cDNA.869C>G
g.25311C>G
AA changes T187S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs2523072
databasehomozygous (C/C)heterozygousallele carriers
1000G74212121954
ExAC19474-618113293
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1870.018
3.1390.961
(flanking)1.3470.979
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 increased25304wt: 0.9692 / mu: 0.9766 (marginal change - not scored)wt: AGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTATGAT
mu: AGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTATGAT		 acgg|TGCC
Acc marginally increased25301wt: 0.5887 / mu: 0.6364 (marginal change - not scored)wt: CCCAGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTAT
mu: CCCAGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTAT		 ccca|CGGT
Acc marginally increased25303wt: 0.9363 / mu: 0.9463 (marginal change - not scored)wt: CAGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTATGA
mu: CAGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTATGA		 cacg|GTGC
Donor increased25310wt: 0.86 / mu: 0.99wt: TGCCAACCAAGGCTT
mu: TGCCAAGCAAGGCTT		 CCAA|ccaa
Donor increased25305wt: 0.89 / mu: 1.00wt: CACGGTGCCAACCAA
mu: CACGGTGCCAAGCAA		 CGGT|gcca
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187RTQQPFPPTVPTKAYDSTVLKTRG
mutated  all conserved    187FPPTVPSKAYDSTVLKTR
Ptroglodytes  all identical  ENSPTRG00000018997  187FPPTVPTKAYDSTVLKTR
Mmulatta  all identical  ENSMMUG00000005701  187FPPTVPTKTYDSTVLKTR
Fcatus  all identical  ENSFCAG00000008464  187FPPTVPTKAYDTTILKTR
Mmusculus  all identical  ENSMUSG00000029828  187FPPTVPTKACDTTILKTR
Ggallus  not conserved  ENSGALG00000011021  177SSYQPFHPNIPCKAFD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1773 / 1773
position (AA) of stopcodon in wt / mu AA sequence 591 / 591
position of stopcodon in wt / mu cDNA 2082 / 2082
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 310 / 310
chromosome 7
strand -1
last intron/exon boundary 1261
theoretical NMD boundary in CDS 901
length of CDS 1773
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 869
gDNA position
(for ins/del: last normal base / first normal base)		 25311
chromosomal position
(for ins/del: last normal base / first normal base)		 25194665
original gDNA sequence snippet CTTTCCTCCCACGGTGCCAACCAAGGCTTATGATTCAACAG
altered gDNA sequence snippet CTTTCCTCCCACGGTGCCAAGCAAGGCTTATGATTCAACAG
original cDNA sequence snippet CTTTCCTCCCACGGTGCCAACCAAGGCTTATGATTCAACAG
altered cDNA sequence snippet CTTTCCTCCCACGGTGCCAAGCAAGGCTTATGATTCAACAG
wildtype AA sequence MEVIHGRPYC CRELEGADIL SNTFYSNELH NPLQTVTRPT ASEDRYQELR ESLQQCRLPW
GAEREYGGII PISLPEDHRP KYEPPRVMGK GHQHYGFGGE TWPRKLPVEQ FYYLTQNKKS
DVYGNDSLIP KPPNSTVGEI CLPYPIEHPY HTHICRGAMF PTFTSPEDLY TGIKARTQQP
FPPTVPTKAY DSTVLKTRGN PYRYELIDIP MDSKKKALTW PGQGVYYDFP RGVEKNKPVF
YPKPPKTFAP NTSLNSWDPI CSAKEANIQR NLERSHWLTS YTHDFTGLGP MDPLELDDYH
EKMVAELTRK IGFDPEPQEK FHPVFKPPRP LEGRIARLIQ NRRSLEAIVQ QRPRSCPDCT
PRVLCNFHTF VPSSKEMVAL SDNIPAGVTH KNQDIEEKII EEQSLLSTYE LPSCYPTKDL
TSIYDIKPFP KITDTKKTED LYWRQQSLKT QPTPYCKPDH WIHYENLKSP LRDQYNMCPD
PVSLSKPSVL QNKQDTEAFT LEHFLSKPEE ELFLNMENNE ETRPVLGWIP RAGVTKPQTN
LLELKNSFSK TGAQKRFHKS ILEDHKDLRD NEHSGMKHQF YGHNSYYFYN *
mutated AA sequence MEVIHGRPYC CRELEGADIL SNTFYSNELH NPLQTVTRPT ASEDRYQELR ESLQQCRLPW
GAEREYGGII PISLPEDHRP KYEPPRVMGK GHQHYGFGGE TWPRKLPVEQ FYYLTQNKKS
DVYGNDSLIP KPPNSTVGEI CLPYPIEHPY HTHICRGAMF PTFTSPEDLY TGIKARTQQP
FPPTVPSKAY DSTVLKTRGN PYRYELIDIP MDSKKKALTW PGQGVYYDFP RGVEKNKPVF
YPKPPKTFAP NTSLNSWDPI CSAKEANIQR NLERSHWLTS YTHDFTGLGP MDPLELDDYH
EKMVAELTRK IGFDPEPQEK FHPVFKPPRP LEGRIARLIQ NRRSLEAIVQ QRPRSCPDCT
PRVLCNFHTF VPSSKEMVAL SDNIPAGVTH KNQDIEEKII EEQSLLSTYE LPSCYPTKDL
TSIYDIKPFP KITDTKKTED LYWRQQSLKT QPTPYCKPDH WIHYENLKSP LRDQYNMCPD
PVSLSKPSVL QNKQDTEAFT LEHFLSKPEE ELFLNMENNE ETRPVLGWIP RAGVTKPQTN
LLELKNSFSK TGAQKRFHKS ILEDHKDLRD NEHSGMKHQF YGHNSYYFYN *
speed 1.07 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: 0.695169564420097 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:25194665G>CN/A show variant in all transcripts   IGV
HGNC symbol C7orf31
Ensembl transcript ID ENST00000283905
Genbank transcript ID N/A
UniProt peptide Q8N865
alteration type single base exchange
alteration region CDS
DNA changes c.560C>G
cDNA.1223C>G
g.25311C>G
AA changes T187S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs2523072
databasehomozygous (C/C)heterozygousallele carriers
1000G74212121954
ExAC19474-618113293
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1870.018
3.1390.961
(flanking)1.3470.979
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 increased25304wt: 0.9692 / mu: 0.9766 (marginal change - not scored)wt: AGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTATGAT
mu: AGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTATGAT		 acgg|TGCC
Acc marginally increased25301wt: 0.5887 / mu: 0.6364 (marginal change - not scored)wt: CCCAGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTAT
mu: CCCAGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTAT		 ccca|CGGT
Acc marginally increased25303wt: 0.9363 / mu: 0.9463 (marginal change - not scored)wt: CAGCAGCCCTTTCCTCCCACGGTGCCAACCAAGGCTTATGA
mu: CAGCAGCCCTTTCCTCCCACGGTGCCAAGCAAGGCTTATGA		 cacg|GTGC
Donor increased25310wt: 0.86 / mu: 0.99wt: TGCCAACCAAGGCTT
mu: TGCCAAGCAAGGCTT		 CCAA|ccaa
Donor increased25305wt: 0.89 / mu: 1.00wt: CACGGTGCCAACCAA
mu: CACGGTGCCAAGCAA		 CGGT|gcca
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187RTQQPFPPTVPTKAYDSTVLKTRG
mutated  all conserved    187FPPTVPSKAYDSTVLKTR
Ptroglodytes  all identical  ENSPTRG00000018997  187FPPTVPTKAYDSTVLKTR
Mmulatta  all identical  ENSMMUG00000005701  187FPPTVPTKTYDSTVLKTR
Fcatus  all identical  ENSFCAG00000008464  187FPPTVPTKAYDTTILKTR
Mmusculus  all identical  ENSMUSG00000029828  187FPPTVPTKACDTTILKTR
Ggallus  not conserved  ENSGALG00000011021  177SSYQPFHPNIPCKAFD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1773 / 1773
position (AA) of stopcodon in wt / mu AA sequence 591 / 591
position of stopcodon in wt / mu cDNA 2436 / 2436
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 664 / 664
chromosome 7
strand -1
last intron/exon boundary 1615
theoretical NMD boundary in CDS 901
length of CDS 1773
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 1223
gDNA position
(for ins/del: last normal base / first normal base)		 25311
chromosomal position
(for ins/del: last normal base / first normal base)		 25194665
original gDNA sequence snippet CTTTCCTCCCACGGTGCCAACCAAGGCTTATGATTCAACAG
altered gDNA sequence snippet CTTTCCTCCCACGGTGCCAAGCAAGGCTTATGATTCAACAG
original cDNA sequence snippet CTTTCCTCCCACGGTGCCAACCAAGGCTTATGATTCAACAG
altered cDNA sequence snippet CTTTCCTCCCACGGTGCCAAGCAAGGCTTATGATTCAACAG
wildtype AA sequence MEVIHGRPYC CRELEGADIL SNTFYSNELH NPLQTVTRPT ASEDRYQELR ESLQQCRLPW
GAEREYGGII PISLPEDHRP KYEPPRVMGK GHQHYGFGGE TWPRKLPVEQ FYYLTQNKKS
DVYGNDSLIP KPPNSTVGEI CLPYPIEHPY HTHICRGAMF PTFTSPEDLY TGIKARTQQP
FPPTVPTKAY DSTVLKTRGN PYRYELIDIP MDSKKKALTW PGQGVYYDFP RGVEKNKPVF
YPKPPKTFAP NTSLNSWDPI CSAKEANIQR NLERSHWLTS YTHDFTGLGP MDPLELDDYH
EKMVAELTRK IGFDPEPQEK FHPVFKPPRP LEGRIARLIQ NRRSLEAIVQ QRPRSCPDCT
PRVLCNFHTF VPSSKEMVAL SDNIPAGVTH KNQDIEEKII EEQSLLSTYE LPSCYPTKDL
TSIYDIKPFP KITDTKKTED LYWRQQSLKT QPTPYCKPDH WIHYENLKSP LRDQYNMCPD
PVSLSKPSVL QNKQDTEAFT LEHFLSKPEE ELFLNMENNE ETRPVLGWIP RAGVTKPQTN
LLELKNSFSK TGAQKRFHKS ILEDHKDLRD NEHSGMKHQF YGHNSYYFYN *
mutated AA sequence MEVIHGRPYC CRELEGADIL SNTFYSNELH NPLQTVTRPT ASEDRYQELR ESLQQCRLPW
GAEREYGGII PISLPEDHRP KYEPPRVMGK GHQHYGFGGE TWPRKLPVEQ FYYLTQNKKS
DVYGNDSLIP KPPNSTVGEI CLPYPIEHPY HTHICRGAMF PTFTSPEDLY TGIKARTQQP
FPPTVPSKAY DSTVLKTRGN PYRYELIDIP MDSKKKALTW PGQGVYYDFP RGVEKNKPVF
YPKPPKTFAP NTSLNSWDPI CSAKEANIQR NLERSHWLTS YTHDFTGLGP MDPLELDDYH
EKMVAELTRK IGFDPEPQEK FHPVFKPPRP LEGRIARLIQ NRRSLEAIVQ QRPRSCPDCT
PRVLCNFHTF VPSSKEMVAL SDNIPAGVTH KNQDIEEKII EEQSLLSTYE LPSCYPTKDL
TSIYDIKPFP KITDTKKTED LYWRQQSLKT QPTPYCKPDH WIHYENLKSP LRDQYNMCPD
PVSLSKPSVL QNKQDTEAFT LEHFLSKPEE ELFLNMENNE ETRPVLGWIP RAGVTKPQTN
LLELKNSFSK TGAQKRFHKS ILEDHKDLRD NEHSGMKHQF YGHNSYYFYN *
speed 1.10 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

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