mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 6.14126284710194e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | |||||||||||||||
Summary |
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hyperlink | |||||||||||||||
analysed issue | analysis result | ||||||||||||||||
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name of alteration | no title | ||||||||||||||||
alteration (phys. location) | chr20:30449325C>GN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | DUSP15 | ||||||||||||||||
Ensembl transcript ID | ENST00000278979 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | Q9H1R2 | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | intron | ||||||||||||||||
DNA changes | g.9226G>C | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs947310
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regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation E2F6, Transcription Factor, E2F6 Transcription Factor Binding PolII, Polymerase, RNA Polymerase II H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H2AZ, Histone, Histone 2A variant Z Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding H3K9ac, Histone, Histone 3 Lysine 9 Acetylation TAF1, Transcription Factor, TAF1 Transcription Factor Binding H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 1049 | ||||||||||||||||
Kozak consensus sequence altered? | N/A | ||||||||||||||||
conservation protein level for non-synonymous changes | N/A | ||||||||||||||||
protein features |
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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 | 78 / 78 | ||||||||||||||||
chromosome | 20 | ||||||||||||||||
strand | -1 | ||||||||||||||||
last intron/exon boundary | 804 | ||||||||||||||||
theoretical NMD boundary in CDS | 676 | ||||||||||||||||
length of CDS | 888 | ||||||||||||||||
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) | 9226 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 30449325 | ||||||||||||||||
original gDNA sequence snippet | CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC | ||||||||||||||||
altered gDNA sequence snippet | CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC | ||||||||||||||||
original cDNA sequence snippet | N/A | ||||||||||||||||
altered cDNA sequence snippet | N/A | ||||||||||||||||
wildtype AA sequence | MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP IANPNPGFRQ QLEEFGWASS QKGARHRTSK TSGAQCPPMT SATCLLAARV ALLSAALVRE ATGRTAQRCR LSPRAAAERL LGPPPHVAAG WSPDPKYQIC LCFGEEDPGP TQHPKEQLIM ADVQVQLRPG SSSCTLSAST ERPDGSSTPG NPDGITHLQC SCLHPKRAAS SSCTR* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.79 s | ||||||||||||||||