Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.97410102867992e-08 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM168195)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:89745477C>AN/A show variant in all transcripts   IGV
HGNC symbol DUSP6
Ensembl transcript ID ENST00000308385
Genbank transcript ID NM_022652
UniProt peptide Q16828
alteration type single base exchange
alteration region CDS
DNA changes c.340G>T
cDNA.706G>T
g.1572G>T
AA changes V114L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 114
frameshift no
known variant Reference ID: rs2279574
databasehomozygous (A/A)heterozygousallele carriers
1000G58711611748
ExAC12719732920048

known disease mutation at this position, please check HGMD for details (HGMD ID CM168195)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0531
4.0661
(flanking)0.3590.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      114SDWNENTGGESVLGLLLKKLKDEG
mutated  all conserved    114SDWNENTGGESLLGLLLK
Ptroglodytes  all identical  ENSPTRG00000005282  114SDWNENTGGESVLGLLLK
Mmulatta  all identical  ENSMMUG00000006227  114SDWNENTGGESVLGLLLK
Fcatus  all identical  ENSFCAG00000006979  114SDWNENTGGESVLGLLLK
Mmusculus  all identical  ENSMUSG00000019960  114SDWNENTGGESVLGLLLK
Ggallus  all identical  ENSGALG00000011207  114RDWNENTGGESVLGLLL
Trubripes  all identical  ENSTRUG00000017083  115REWNENVDGGSVLGLLL
Drerio  all identical  ENSDARG00000070914  114REWNENIDGGSVLGLLLR
Dmelanogaster  all conserved  FBgn0036844  106PGQNQEIAGAGSLAVAMDSIISILHRRLKQD
Celegans  no alignment  C05B10.1  n/a
Xtropicalis  all identical  ENSXETG00000021871  113CDWNENTGGESVLGLLMK
protein features
start (aa)end (aa)featuredetails 
30148DOMAINRhodanese.lost
114124HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 708 / 708
position (AA) of stopcodon in wt / mu AA sequence 236 / 236
position of stopcodon in wt / mu cDNA 1074 / 1074
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 367 / 367
chromosome 12
strand -1
last intron/exon boundary 767
theoretical NMD boundary in CDS 350
length of CDS 708
coding sequence (CDS) position 340
cDNA position
(for ins/del: last normal base / first normal base)		 706
gDNA position
(for ins/del: last normal base / first normal base)		 1572
chromosomal position
(for ins/del: last normal base / first normal base)		 89745477
original gDNA sequence snippet AGAATACGGGCGGCGAGTCGGTGCTCGGGCTGCTGCTCAAG
altered gDNA sequence snippet AGAATACGGGCGGCGAGTCGTTGCTCGGGCTGCTGCTCAAG
original cDNA sequence snippet AGAATACGGGCGGCGAGTCGGTGCTCGGGCTGCTGCTCAAG
altered cDNA sequence snippet AGAATACGGGCGGCGAGTCGTTGCTCGGGCTGCTGCTCAAG
wildtype AA sequence MIDTLRPVPF ASEMAISKTV AWLNEQLELG NERLLLMDCR PQELYESSHI ESAINVAIPG
IMLRRLQKGN LPVRALFTRG EDRDRFTRRC GTDTVVLYDE SSSDWNENTG GESVLGLLLK
KLKDEGCRAF YLEDEARGKN CGVLVHCLAG ISRSVTVTVA YLMQKLNLSM NDAYDIVKMK
KSNISPNFNF MGQLLDFERT LGLSSPCDNR VPAQQLYFTT PSNQNVYQVD SLQST*
mutated AA sequence MIDTLRPVPF ASEMAISKTV AWLNEQLELG NERLLLMDCR PQELYESSHI ESAINVAIPG
IMLRRLQKGN LPVRALFTRG EDRDRFTRRC GTDTVVLYDE SSSDWNENTG GESLLGLLLK
KLKDEGCRAF YLEDEARGKN CGVLVHCLAG ISRSVTVTVA YLMQKLNLSM NDAYDIVKMK
KSNISPNFNF MGQLLDFERT LGLSSPCDNR VPAQQLYFTT PSNQNVYQVD SLQST*
speed 0.57 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