Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999997961019602 (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) chr20:30449325C>GN/A show variant in all transcripts   IGV
HGNC symbol DUSP15
Ensembl transcript ID ENST00000375966
Genbank transcript ID N/A
UniProt peptide Q9H1R2
alteration type single base exchange
alteration region CDS
DNA changes c.580G>C
cDNA.622G>C
g.9226G>C
AA changes V194L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 194
frameshift no
known variant Reference ID: rs947310
databasehomozygous (G/G)heterozygousallele carriers
1000G5237211244
ExAC136940325401
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
PhyloPPhastCons
(flanking)2.5151
-0.0280.997
(flanking)1.4971
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased9227wt: 0.87 / mu: 0.97wt: AACCGTGCAGCGCCT
mu: AACCCTGCAGCGCCT		 CCGT|gcag
Donor marginally increased9218wt: 0.9472 / mu: 0.9742 (marginal change - not scored)wt: CTCCGAGGGAACCGT
mu: CTCCGAGGGAACCCT		 CCGA|ggga
distance from splice site 154
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      194AGPHSAASEGTVQRLVPRTPREAH
mutated  all conserved    194AGPHSAASEGTLQRLVPRTPREA
Ptroglodytes  all conserved  ENSPTRG00000013364  197LHSAASEGTLQRLVPRTPREA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000042662  197TASSAAEGTLQRLVPRSPRDS
Ggallus  not conserved  ENSGALG00000021017  189------EGARQGLVPRA-RDI
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0036369  n/a
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 699 / 699
position (AA) of stopcodon in wt / mu AA sequence 233 / 233
position of stopcodon in wt / mu cDNA 741 / 741
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 43 / 43
chromosome 20
strand -1
last intron/exon boundary 469
theoretical NMD boundary in CDS 376
length of CDS 699
coding sequence (CDS) position 580
cDNA position
(for ins/del: last normal base / first normal base)		 622
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 CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC
altered cDNA sequence snippet CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC
wildtype AA sequence MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI
KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP
IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE ELRALLPLCK RCRQGSATSA
SSAGPHSAAS EGTVQRLVPR TPREAHRPLP LLARVKQTFS CLPRCLSRKG GK*
mutated AA sequence MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI
KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP
IANPNPGFRQ QLEEFGWASS QKLRRQLEER FGESPFRDEE ELRALLPLCK RCRQGSATSA
SSAGPHSAAS EGTLQRLVPR TPREAHRPLP LLARVKQTFS CLPRCLSRKG GK*
speed 1.30 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