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 ENST00000376452
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2554G>A
cDNA.2575G>A
g.829780G>A
AA changes A852T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 852
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      852VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    852VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  741VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  837SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
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 4125 / 4125
position (AA) of stopcodon in wt / mu AA sequence 1375 / 1375
position of stopcodon in wt / mu cDNA 4146 / 4146
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 22 / 22
chromosome 10
strand 1
last intron/exon boundary 3649
theoretical NMD boundary in CDS 3577
length of CDS 4125
coding sequence (CDS) position 2554
cDNA position
(for ins/del: last normal base / first normal base)		 2575
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 MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG 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 ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HAQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSDSPNSEQD LEKLGGKSPP PPPPPPRRSY
LPGSGLTTTR SGDVVYTGRK ENITAKASSE DAGPSPQTRA TKYPAEEPAS AWTPSPPPVT
TSSSKDEEEE EEEGDKIMAE LQAFQKCSFM DVNSNSHAEP SRADSHVKDT RSGATVPPKE
KKNLEFFHED VRKSDVEYEN GPQMEFQKGS SGAPQTSRMP VPMSAKNRPG TLDKPGKQSK
LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS GDSSNLPNPP
ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS PQSQNGRAPP
PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA KETS*
mutated AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG 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 ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HTQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSDSPNSEQD LEKLGGKSPP PPPPPPRRSY
LPGSGLTTTR SGDVVYTGRK ENITAKASSE DAGPSPQTRA TKYPAEEPAS AWTPSPPPVT
TSSSKDEEEE EEEGDKIMAE LQAFQKCSFM DVNSNSHAEP SRADSHVKDT RSGATVPPKE
KKNLEFFHED VRKSDVEYEN GPQMEFQKGS SGAPQTSRMP VPMSAKNRPG TLDKPGKQSK
LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS GDSSNLPNPP
ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS PQSQNGRAPP
PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA KETS*
speed 1.07 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