Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000360127
Querying Taster for transcript #2: ENST00000571106
MT speed 0 s - this script 4.203074 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
C17orf97polymorphism_automatic0.051750792830443simple_aaeaffectedE56Ksingle base exchangers4581766show file
C17orf97polymorphism_automatic0.051750792830443simple_aaeaffectedE56Ksingle base exchangers4581766show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.948249207169557 (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) chr17:260299G>AN/A show variant in all transcripts   IGV
HGNC symbol C17orf97
Ensembl transcript ID ENST00000360127
Genbank transcript ID NM_001013672
UniProt peptide Q6ZQX7
alteration type single base exchange
alteration region CDS
DNA changes c.166G>A
cDNA.182G>A
g.182G>A
AA changes E56K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs4581766
databasehomozygous (A/A)heterozygousallele carriers
1000G124744868
ExAC18215901772
regulatory features H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5830.667
2.2770.872
(flanking)1.9350.884
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased178wt: 0.90 / mu: 1.00wt: GGCGAGGAGGAGGAG
mu: GGCGAGGAGAAGGAG		 CGAG|gagg
Donor marginally increased173wt: 0.8416 / mu: 0.8787 (marginal change - not scored)wt: ACGACGGCGAGGAGG
mu: ACGACGGCGAGGAGA		 GACG|gcga
Donor increased187wt: 0.25 / mu: 0.34wt: GAGGAGCGGGAGGGC
mu: AAGGAGCGGGAGGGC		 GGAG|cggg
Donor marginally increased175wt: 0.9529 / mu: 0.9728 (marginal change - not scored)wt: GACGGCGAGGAGGAG
mu: GACGGCGAGGAGAAG		 CGGC|gagg
Donor gained1830.46mu: GGAGAAGGAGCGGGA AGAA|ggag
Donor gained1770.31mu: CGGCGAGGAGAAGGA GCGA|ggag
distance from splice site 139
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56TMGYKDNDGEEEEREGGAAGPRGS
mutated  all conserved    56TMGYKDNDGEEKEREG
Ptroglodytes  no alignment  ENSPTRG00000031019  n/a
Mmulatta  all identical  ENSMMUG00000001533  56ASGYEDNDGEEEEREG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000053783  20AAEYGEEGEEEEEEEAREGGAEGSPG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000095185  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
5459COMPBIASPoly-Glu.lost
8295COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
105105CONFLICTQ -> L (in Ref. 3; AAI41807).might get lost (downstream of altered splice site)
114114CONFLICTL -> P (in Ref. 3; AAH57385).might get lost (downstream of altered splice site)
201210REPEAT1.might get lost (downstream of altered splice site)
201400REGION20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.might get lost (downstream of altered splice site)
211220REPEAT2.might get lost (downstream of altered splice site)
221230REPEAT3.might get lost (downstream of altered splice site)
231240REPEAT4.might get lost (downstream of altered splice site)
240240CONFLICTE -> D (in Ref. 3; AAH57385).might get lost (downstream of altered splice site)
241250REPEAT5.might get lost (downstream of altered splice site)
251260REPEAT6.might get lost (downstream of altered splice site)
261270REPEAT7.might get lost (downstream of altered splice site)
271280REPEAT8.might get lost (downstream of altered splice site)
281290REPEAT9.might get lost (downstream of altered splice site)
291300REPEAT10.might get lost (downstream of altered splice site)
301310REPEAT11.might get lost (downstream of altered splice site)
311320REPEAT12.might get lost (downstream of altered splice site)
321330REPEAT13.might get lost (downstream of altered splice site)
331340REPEAT14.might get lost (downstream of altered splice site)
341350REPEAT15.might get lost (downstream of altered splice site)
351360REPEAT16.might get lost (downstream of altered splice site)
361370REPEAT17.might get lost (downstream of altered splice site)
371380REPEAT18.might get lost (downstream of altered splice site)
381390REPEAT19.might get lost (downstream of altered splice site)
391400REPEAT20.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1288 / 1288
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 17 / 17
chromosome 17
strand 1
last intron/exon boundary 321
theoretical NMD boundary in CDS 254
length of CDS 1272
coding sequence (CDS) position 166
cDNA position
(for ins/del: last normal base / first normal base)		 182
gDNA position
(for ins/del: last normal base / first normal base)		 182
chromosomal position
(for ins/del: last normal base / first normal base)		 260299
original gDNA sequence snippet AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC
altered gDNA sequence snippet AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC
original cDNA sequence snippet AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC
altered cDNA sequence snippet AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC
wildtype AA sequence METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEEEREG
GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DDKHQSQSLK SQPLSSSFHD
ILSPCKERGP KPEHRQSKVE KKHLPSDSST VSLPDFAEIE NLANRINESL RWDGILADPE
AEKERIRIYK LNRRKRYRCL ALKGFHPDPE ALKGFHPDPD ALKGFHPDPE ALKGFHPDPE
ALKGIHPDPE ALKGFHPDPE ALKGFHPDPE ALKGFHTDPE ALKGFHIDPE ALKGFHPDPK
ALKGFHPDPK ALKGFHTDPE ALKGFHPDPK ALKGFHPDPE ALKGFHPDPE ALKGFHPDPE
ALKGFHTDPN AEEAPENLPY LSDKDGSSSH RQPTSKAECP NLCFEGNLTP KLLHSDLAPT
LLE*
mutated AA sequence METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEKEREG
GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DDKHQSQSLK SQPLSSSFHD
ILSPCKERGP KPEHRQSKVE KKHLPSDSST VSLPDFAEIE NLANRINESL RWDGILADPE
AEKERIRIYK LNRRKRYRCL ALKGFHPDPE ALKGFHPDPD ALKGFHPDPE ALKGFHPDPE
ALKGIHPDPE ALKGFHPDPE ALKGFHPDPE ALKGFHTDPE ALKGFHIDPE ALKGFHPDPK
ALKGFHPDPK ALKGFHTDPE ALKGFHPDPK ALKGFHPDPE ALKGFHPDPE ALKGFHPDPE
ALKGFHTDPN AEEAPENLPY LSDKDGSSSH RQPTSKAECP NLCFEGNLTP KLLHSDLAPT
LLE*
speed 1.14 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: 0.948249207169557 (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) chr17:260299G>AN/A show variant in all transcripts   IGV
HGNC symbol C17orf97
Ensembl transcript ID ENST00000571106
Genbank transcript ID N/A
UniProt peptide Q6ZQX7
alteration type single base exchange
alteration region CDS
DNA changes c.166G>A
cDNA.172G>A
g.182G>A
AA changes E56K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs4581766
databasehomozygous (A/A)heterozygousallele carriers
1000G124744868
ExAC18215901772
regulatory features H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5830.667
2.2770.872
(flanking)1.9350.884
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased178wt: 0.90 / mu: 1.00wt: GGCGAGGAGGAGGAG
mu: GGCGAGGAGAAGGAG		 CGAG|gagg
Donor marginally increased173wt: 0.8416 / mu: 0.8787 (marginal change - not scored)wt: ACGACGGCGAGGAGG
mu: ACGACGGCGAGGAGA		 GACG|gcga
Donor increased187wt: 0.25 / mu: 0.34wt: GAGGAGCGGGAGGGC
mu: AAGGAGCGGGAGGGC		 GGAG|cggg
Donor marginally increased175wt: 0.9529 / mu: 0.9728 (marginal change - not scored)wt: GACGGCGAGGAGGAG
mu: GACGGCGAGGAGAAG		 CGGC|gagg
Donor gained1830.46mu: GGAGAAGGAGCGGGA AGAA|ggag
Donor gained1770.31mu: CGGCGAGGAGAAGGA GCGA|ggag
distance from splice site 139
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56TMGYKDNDGEEEEREGGAAGPRGS
mutated  all conserved    56TMGYKDNDGEEKEREG
Ptroglodytes  no alignment  ENSPTRG00000031019  n/a
Mmulatta  all identical  ENSMMUG00000001533  56ASGYEDNDGEEEEREG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000053783  20AAEYGEEGEEEEEEEAREGGAEGSPG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000095185  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
5459COMPBIASPoly-Glu.lost
8295COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
105105CONFLICTQ -> L (in Ref. 3; AAI41807).might get lost (downstream of altered splice site)
114114CONFLICTL -> P (in Ref. 3; AAH57385).might get lost (downstream of altered splice site)
201210REPEAT1.might get lost (downstream of altered splice site)
201400REGION20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.might get lost (downstream of altered splice site)
211220REPEAT2.might get lost (downstream of altered splice site)
221230REPEAT3.might get lost (downstream of altered splice site)
231240REPEAT4.might get lost (downstream of altered splice site)
240240CONFLICTE -> D (in Ref. 3; AAH57385).might get lost (downstream of altered splice site)
241250REPEAT5.might get lost (downstream of altered splice site)
251260REPEAT6.might get lost (downstream of altered splice site)
261270REPEAT7.might get lost (downstream of altered splice site)
271280REPEAT8.might get lost (downstream of altered splice site)
281290REPEAT9.might get lost (downstream of altered splice site)
291300REPEAT10.might get lost (downstream of altered splice site)
301310REPEAT11.might get lost (downstream of altered splice site)
311320REPEAT12.might get lost (downstream of altered splice site)
321330REPEAT13.might get lost (downstream of altered splice site)
331340REPEAT14.might get lost (downstream of altered splice site)
341350REPEAT15.might get lost (downstream of altered splice site)
351360REPEAT16.might get lost (downstream of altered splice site)
361370REPEAT17.might get lost (downstream of altered splice site)
371380REPEAT18.might get lost (downstream of altered splice site)
381390REPEAT19.might get lost (downstream of altered splice site)
391400REPEAT20.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 462 / 462
position (AA) of stopcodon in wt / mu AA sequence 154 / 154
position of stopcodon in wt / mu cDNA 468 / 468
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 7 / 7
chromosome 17
strand 1
last intron/exon boundary 311
theoretical NMD boundary in CDS 254
length of CDS 462
coding sequence (CDS) position 166
cDNA position
(for ins/del: last normal base / first normal base)		 172
gDNA position
(for ins/del: last normal base / first normal base)		 182
chromosomal position
(for ins/del: last normal base / first normal base)		 260299
original gDNA sequence snippet AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC
altered gDNA sequence snippet AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC
original cDNA sequence snippet AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC
altered cDNA sequence snippet AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC
wildtype AA sequence METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEEEREG
GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DGILLWGKPA AVLCGLPEER
CPPERNDVSA QQHGGPESCY QPHECAWKQV EPS*
mutated AA sequence METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEKEREG
GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DGILLWGKPA AVLCGLPEER
CPPERNDVSA QQHGGPESCY QPHECAWKQV EPS*
speed 1.06 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

Problems