Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.995359088358651 (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) chr19:10676681T>CN/A show variant in all transcripts   IGV
HGNC symbol KRI1
Ensembl transcript ID ENST00000361821
Genbank transcript ID N/A
UniProt peptide Q8N9T8
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.16A>G
g.33A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3218222
databasehomozygous (C/C)heterozygousallele carriers
1000G99010462036
ExAC195125214472
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Gabp, Transcription Factor, Gabp TF binding
HDAC3, Transcription Factor, HDAC3 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
HDAC1, Transcription Factor, HDAC1 Transcription Factor Binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
CBP, Transcription Factor, CBP Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
Nrf1, Transcription Factor, Nrf1 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4670.251
0.5030.129
(flanking)-0.3150.008
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -40) | splice site change before start ATG (at aa -39) | splice site change before start ATG (at aa -37) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased24wt: 0.23 / mu: 0.28wt: CAATGGGCCACAGAA
mu: CAATGGGCCACAGAG		 ATGG|gcca
Donor gained270.55mu: TGGGCCACAGAGCCG GGCC|acag
Donor gained320.62mu: CACAGAGCCGCCATG CAGA|gccg
distance from splice site 16
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
9797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
101101MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
103103MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
104429COMPBIASGlu-rich.might get lost (downstream of altered splice site)
142142MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
147147MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
156156MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
171171CONFLICTR -> W (in Ref. 1; BAC04240).might get lost (downstream of altered splice site)
177177MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
258258CONFLICTE -> G (in Ref. 1; BAB14357).might get lost (downstream of altered splice site)
285285CONFLICTD -> G (in Ref. 1; BAB14357).might get lost (downstream of altered splice site)
286286MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
287287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
322322CONFLICTS -> N (in Ref. 1; BAC04240).might get lost (downstream of altered splice site)
351351CONFLICTK -> E (in Ref. 1; BAC04240).might get lost (downstream of altered splice site)
562562CONFLICTK -> E (in Ref. 1; BAB15278).might get lost (downstream of altered splice site)
633633CONFLICTE -> G (in Ref. 1; BAB15278).might get lost (downstream of altered splice site)
634634MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
645645MOD_RESPhosphoserine.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 131 / 131
chromosome 19
strand -1
last intron/exon boundary 1918
theoretical NMD boundary in CDS 1737
length of CDS 2118
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 16
gDNA position
(for ins/del: last normal base / first normal base)		 33
chromosomal position
(for ins/del: last normal base / first normal base)		 10676681
original gDNA sequence snippet CGTGCGCAATGGGCCACAGAACCGCCATGCCGGAACCGCGC
altered gDNA sequence snippet CGTGCGCAATGGGCCACAGAGCCGCCATGCCGGAACCGCGC
original cDNA sequence snippet GCAATGGGCCACAGAACCGCCATGCCGGAACCGCGC
altered cDNA sequence snippet GCAATGGGCCACAGAGCCGCCATGCCGGAACCGCGC
wildtype AA sequence MRAGACARRP VGKWGVEWPR RLTWGGASRL CPAVKDRYGD RDSSSDSSSE SDSSDERVEF
DPQQERDFYK TLSLLKKKDP RIYQKDATFY NRTASSSDSE EDPEALEKQK KVRPMYLKDY
ERKVILEKAG KYVDEENSDG ETSNHRLQET SSQSYVEEQK QLKESFRAFV EDSEDEDGAG
EGGSSLLQKR AKTRQEKAQE EADYIEWLKG QKEIRNPDSL KELTHLKEYW NDPELDEGER
FLRDYILNKR YEEEEEEEED EEEMEEEEGV HGPPVQLAVD DSSDEGELFL KKQEDFEQKY
NFRFEEPDSA SVKTYPRSIA SSVRRKDERR KEKREETRER KKREKAKKQE ELKQLKNLKR
KEILAKLEKL RKVTGNEMLG LEEGDLEDDF DPAQHDQLMQ KCFGDEYYGA VEEEKPQFEE
EEGLEDDWNW DTWDGPEQEG DWSQQELHCE DPNFNMDADY DPSQPRKKKR EAPLTGKKKR
KSPFAAAVGQ EKPVFEPGDK TFEEYLDEYY RLDYEDIIDD LPCRFKYRTV VPCDFGLSTE
EILAADDKEL NRWCSLKKTC MYRSEQEELR DKRAYSQKAQ NSWKKRQVFK SLCREEAETP
AEATGKPQRD EAGPQRQLPA LDGSLMGPES PPAQEEEAPV SPHKKPAPQK RRRAKKARLL
GPTVMLGGCE FSRQRLQAFG LNPKRLHFRQ LGRQRRKQQG PKNSS*
mutated AA sequence N/A
speed 0.36 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