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: ENST00000324978
Querying Taster for transcript #2: ENST00000484864
MT speed 0 s - this script 3.386478 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AQP10polymorphism_automatic4.31869695560749e-09simple_aaeaffectedR15Qsingle base exchangers6668968show file
AQP10polymorphism_automatic4.31869695560749e-09simple_aaeaffectedR15Qsingle base exchangers6668968show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995681303 (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) chr1:154293675G>AN/A show variant in all transcripts   IGV
HGNC symbol AQP10
Ensembl transcript ID ENST00000324978
Genbank transcript ID NM_080429
UniProt peptide Q96PS8
alteration type single base exchange
alteration region CDS
DNA changes c.44G>A
cDNA.84G>A
g.110G>A
AA changes R15Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs6668968
databasehomozygous (A/A)heterozygousallele carriers
1000G16010481208
ExAC53712202527396
regulatory features Cjun, Transcription Factor, Cjun TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gata1, Transcription Factor, Gata1 TF binding
Gata2, Transcription Factor, Gata2 Transcription Factor Binding
Gata2, Transcription Factor, Gata2 Transcription Factor Binding (1)
H2AZ, Histone, Histone 2A variant Z
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
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7380.065
0.2940.064
(flanking)0.0310.077
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased110wt: 0.9933 / mu: 0.9979 (marginal change - not scored)wt: CCTCCGGATACGCAG
mu: CCTCCAGATACGCAG		 TCCG|gata
Donor increased115wt: 0.24 / mu: 0.52wt: GGATACGCAGCCTCC
mu: AGATACGCAGCCTCC		 ATAC|gcag
distance from splice site 62
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15TQAPAEIMGHLRIRSLLARQCLAE
mutated  all conserved    15TQAPAEIMGHLQIRSLLARQCLA
Ptroglodytes  all identical  ENSPTRG00000001381  15TQAPAEIMGHLRIRSLLARQCLA
Mmulatta  all identical  ENSMMUG00000023363  15TQAPAGIRGHLRIRSLLARQCLA
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000058678  9LLRRYRIKSRLPRECLA
Dmelanogaster  no homologue    
Celegans  not conserved  C01G6.1  11KLRAKFHIRKELLRAVLA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
127TOPO_DOMCytoplasmic (Potential).lost
2848TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4952TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
74101TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
8284MOTIFNPA 1.might get lost (downstream of altered splice site)
102122TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
123156TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
157177TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
178187TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
209301TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
214216MOTIFNPA 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 906 / 906
position (AA) of stopcodon in wt / mu AA sequence 302 / 302
position of stopcodon in wt / mu cDNA 946 / 946
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 41 / 41
chromosome 1
strand 1
last intron/exon boundary 748
theoretical NMD boundary in CDS 657
length of CDS 906
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 84
gDNA position
(for ins/del: last normal base / first normal base)		 110
chromosomal position
(for ins/del: last normal base / first normal base)		 154293675
original gDNA sequence snippet TGAAATCATGGGCCACCTCCGGATACGCAGCCTCCTGGCCC
altered gDNA sequence snippet TGAAATCATGGGCCACCTCCAGATACGCAGCCTCCTGGCCC
original cDNA sequence snippet TGAAATCATGGGCCACCTCCGGATACGCAGCCTCCTGGCCC
altered cDNA sequence snippet TGAAATCATGGGCCACCTCCAGATACGCAGCCTCCTGGCCC
wildtype AA sequence MVFTQAPAEI MGHLRIRSLL ARQCLAEFLG VFVLMLLTQG AVAQAVTSGE TKGNFFTMFL
AGSLAVTIAI YVGGNVSGAH LNPAFSLAMC IVGRLPWVKL PIYILVQLLS AFCASGATYV
LYHDALQNYT GGNLTVTGPK ETASIFATYP APYLSLNNGF LDQVLGTGML IVGLLAILDR
RNKGVPAGLE PVVVGMLILA LGLSMGANCG IPLNPARDLG PRLFTYVAGW GPEVFSAGNG
WWWVPVVAPL VGATVGTATY QLLVALHHPE GPEPAQDLVS AQHKASELET PASAQMLECK
L*
mutated AA sequence MVFTQAPAEI MGHLQIRSLL ARQCLAEFLG VFVLMLLTQG AVAQAVTSGE TKGNFFTMFL
AGSLAVTIAI YVGGNVSGAH LNPAFSLAMC IVGRLPWVKL PIYILVQLLS AFCASGATYV
LYHDALQNYT GGNLTVTGPK ETASIFATYP APYLSLNNGF LDQVLGTGML IVGLLAILDR
RNKGVPAGLE PVVVGMLILA LGLSMGANCG IPLNPARDLG PRLFTYVAGW GPEVFSAGNG
WWWVPVVAPL VGATVGTATY QLLVALHHPE GPEPAQDLVS AQHKASELET PASAQMLECK
L*
speed 0.44 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: 0.999999995681303 (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) chr1:154293675G>AN/A show variant in all transcripts   IGV
HGNC symbol AQP10
Ensembl transcript ID ENST00000484864
Genbank transcript ID N/A
UniProt peptide Q96PS8
alteration type single base exchange
alteration region CDS
DNA changes c.44G>A
cDNA.80G>A
g.110G>A
AA changes R15Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs6668968
databasehomozygous (A/A)heterozygousallele carriers
1000G16010481208
ExAC53712202527396
regulatory features Cjun, Transcription Factor, Cjun TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gata1, Transcription Factor, Gata1 TF binding
Gata2, Transcription Factor, Gata2 Transcription Factor Binding
Gata2, Transcription Factor, Gata2 Transcription Factor Binding (1)
H2AZ, Histone, Histone 2A variant Z
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
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7380.065
0.2940.064
(flanking)0.0310.077
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased110wt: 0.9933 / mu: 0.9979 (marginal change - not scored)wt: CCTCCGGATACGCAG
mu: CCTCCAGATACGCAG		 TCCG|gata
Donor increased115wt: 0.24 / mu: 0.52wt: GGATACGCAGCCTCC
mu: AGATACGCAGCCTCC		 ATAC|gcag
distance from splice site 62
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15TQAPAEIMGHLRIRSLLARQCLAE
mutated  all conserved    15TQAPAEIMGHLQIRSLLARQCLA
Ptroglodytes  all identical  ENSPTRG00000001381  15TQAPAEIMGHLRIRSLLARQCLA
Mmulatta  all identical  ENSMMUG00000023363  15TQAPAGIRGHLRIRSLLARQCLA
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000058678  9LLRRYRIKSRLPRECLA
Dmelanogaster  no homologue    
Celegans  not conserved  C01G6.1  11KLRAKFHIRKELLRAVLA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
127TOPO_DOMCytoplasmic (Potential).lost
2848TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4952TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
74101TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
8284MOTIFNPA 1.might get lost (downstream of altered splice site)
102122TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
123156TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
157177TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
178187TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
188208TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
209301TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
214216MOTIFNPA 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 795 / 795
position (AA) of stopcodon in wt / mu AA sequence 265 / 265
position of stopcodon in wt / mu cDNA 831 / 831
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 37 / 37
chromosome 1
strand 1
last intron/exon boundary 526
theoretical NMD boundary in CDS 439
length of CDS 795
coding sequence (CDS) position 44
cDNA position
(for ins/del: last normal base / first normal base)		 80
gDNA position
(for ins/del: last normal base / first normal base)		 110
chromosomal position
(for ins/del: last normal base / first normal base)		 154293675
original gDNA sequence snippet TGAAATCATGGGCCACCTCCGGATACGCAGCCTCCTGGCCC
altered gDNA sequence snippet TGAAATCATGGGCCACCTCCAGATACGCAGCCTCCTGGCCC
original cDNA sequence snippet TGAAATCATGGGCCACCTCCGGATACGCAGCCTCCTGGCCC
altered cDNA sequence snippet TGAAATCATGGGCCACCTCCAGATACGCAGCCTCCTGGCCC
wildtype AA sequence MVFTQAPAEI MGHLRIRSLL ARQCLAEFLG VFVLMLLTQG AVAQAVTSGE TKGNFFTMFL
AGSLAVTIAI YVGGNVSGAH LNPAFSLAMC IVGRLPWVKL PIYILVQLLS AFCASGATYV
LYHDALQNYT GGNLTVTGPK ETASIFATYP APYLSLNNGF LDQVLGTGML IVGLLAILDR
RNKGVPAGLE PVVVGMLILA LGLSMGANCG IPLNPARDLG PRLFTYVAGW GPEVFRWETD
SPGAGLHSPS SAKGSVPGST ALCL*
mutated AA sequence MVFTQAPAEI MGHLQIRSLL ARQCLAEFLG VFVLMLLTQG AVAQAVTSGE TKGNFFTMFL
AGSLAVTIAI YVGGNVSGAH LNPAFSLAMC IVGRLPWVKL PIYILVQLLS AFCASGATYV
LYHDALQNYT GGNLTVTGPK ETASIFATYP APYLSLNNGF LDQVLGTGML IVGLLAILDR
RNKGVPAGLE PVVVGMLILA LGLSMGANCG IPLNPARDLG PRLFTYVAGW GPEVFRWETD
SPGAGLHSPS SAKGSVPGST ALCL*
speed 0.94 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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