Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.59242043392861e-13 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr1:43919413A>GN/A show variant in all transcripts   IGV
HGNC symbol HYI
Ensembl transcript ID ENST00000583037
Genbank transcript ID N/A
UniProt peptide Q5T013
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.248T>C
g.248T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs6692611
databasehomozygous (G/G)heterozygousallele carriers
1000G89611922088
ExAC315633626518
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7470.998
0.2480.749
(flanking)0.2980.769
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -56) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased251wt: 0.4838 / mu: 0.5249 (marginal change - not scored)wt: GGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTGCGG
mu: GGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTGCGG		 tccg|GCCT
Acc marginally increased243wt: 0.7965 / mu: 0.8685 (marginal change - not scored)wt: TCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGC
mu: TCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGC		 ccga|GCTC
Acc increased242wt: 0.67 / mu: 0.77wt: ATCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCG
mu: ATCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCG		 cccg|AGCT
Acc marginally increased250wt: 0.5757 / mu: 0.5842 (marginal change - not scored)wt: TGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTGCG
mu: TGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTGCG		 ctcc|GGCC
Acc marginally increased241wt: 0.3548 / mu: 0.3604 (marginal change - not scored)wt: AATCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGC
mu: AATCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGC		 cccc|GAGC
distance from splice site 148
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1818CONFLICTS -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).might get lost (downstream of altered splice site)
224224CONFLICTS -> KP (in Ref. 1; AAV84474).might get lost (downstream of altered splice site)
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 416 / 416
chromosome 1
strand -1
last intron/exon boundary 957
theoretical NMD boundary in CDS 491
length of CDS 615
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 248
gDNA position
(for ins/del: last normal base / first normal base)		 248
chromosomal position
(for ins/del: last normal base / first normal base)		 43919413
original gDNA sequence snippet CCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTG
altered gDNA sequence snippet CCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTG
original cDNA sequence snippet CCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTG
altered cDNA sequence snippet CCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTG
wildtype AA sequence MGLGAVPGRQ AAFREGLEQA VRYAKALGCP RIHLMAGRVP QGADRIAVKA EMEAVFLENL
RHAAGVLAQE DLVGLLEPIN TRITDPQYFL DTPQQAAAIL QKVGRPNLQL QMDIFHWQIM
DGNLTGNIRE FLPIVGHVQV AQVPGRGEPS SPGELNFPYL FQLLEDEGYK GFVGCEYQPR
GDTVEGLSWL RSYWDRRGHP EAGQ*
mutated AA sequence N/A
speed 1.04 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