Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999971156261 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000376462
Genbank transcript ID NM_001098500
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2419G>A
cDNA.3228G>A
g.829780G>A
AA changes A807T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 807
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      807VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    807VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHV
Trubripes  not conserved  ENSTRUG00000017841  586HVQSSPVHIQQSQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  697PPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3795 / 3795
position (AA) of stopcodon in wt / mu AA sequence 1265 / 1265
position of stopcodon in wt / mu cDNA 4604 / 4604
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 810 / 810
chromosome 10
strand 1
last intron/exon boundary 4107
theoretical NMD boundary in CDS 3247
length of CDS 3795
coding sequence (CDS) position 2419
cDNA position
(for ins/del: last normal base / first normal base)		 3228
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR SPKLSHSPQP PSLGDPVEHL
SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK ERSLGVLYLQ YGDETKQLRM
PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES RNVYYELNDV RNIQDRSLLK
VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP GSTAHPPHAI PNSPPSTPVP
HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI SPSPSAILER RDVKPDEDMS
GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH IIAYHRTAIR SASAYCNPSM
QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD LRMIDMHAHY NAHGPPHTMQ
PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL MEKQVFAYST ATIPKDRETR
ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK TTANRNHTDS AGTPHVSGGK
MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL QQMRQLQLQN QELLRAMMKK
AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK IVKKLCELED FVEDLKKDST
AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR AILRIEVEAV RFLKEEPHKL
DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM EKATAAEVLK SQEEAAHTSG
QPFHSTGAPG DAKSEVVPLS GMMVRHAQSS PVVIQPSQHS VALLNPAQNL PHVASSPAVP
QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN RAVSIEKAEK KWEEKRQNLD
HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP VDKVELSEDS PNSEQDLEKL
GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT AKASSEDAGP SPQTRATKYP
AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQGS SGAPQTSRMP VPMSAKNRPG
TLDKPGKQSK LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS
GDSSNLPNPP ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS
PQSQNGRAPP PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA
KETS*
mutated AA sequence MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR SPKLSHSPQP PSLGDPVEHL
SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK ERSLGVLYLQ YGDETKQLRM
PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES RNVYYELNDV RNIQDRSLLK
VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP GSTAHPPHAI PNSPPSTPVP
HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI SPSPSAILER RDVKPDEDMS
GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH IIAYHRTAIR SASAYCNPSM
QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD LRMIDMHAHY NAHGPPHTMQ
PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL MEKQVFAYST ATIPKDRETR
ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK TTANRNHTDS AGTPHVSGGK
MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL QQMRQLQLQN QELLRAMMKK
AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK IVKKLCELED FVEDLKKDST
AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR AILRIEVEAV RFLKEEPHKL
DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM EKATAAEVLK SQEEAAHTSG
QPFHSTGAPG DAKSEVVPLS GMMVRHTQSS PVVIQPSQHS VALLNPAQNL PHVASSPAVP
QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN RAVSIEKAEK KWEEKRQNLD
HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP VDKVELSEDS PNSEQDLEKL
GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT AKASSEDAGP SPQTRATKYP
AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQGS SGAPQTSRMP VPMSAKNRPG
TLDKPGKQSK LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS
GDSSNLPNPP ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS
PQSQNGRAPP PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA
KETS*
speed 0.76 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