Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999990431577 (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 ENST00000376451
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.1708G>A
cDNA.1968G>A
g.829780G>A
AA changes A570T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
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      570VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    570VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887TVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886TVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  939MTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  775VVPLSAGLRVHQVQSSPVLMQQSQ
protein features
start (aa)end (aa)featuredetails 
557581COILEDPotential.lost
644685COILEDPotential.might get lost (downstream of altered splice site)
679679CONFLICTK -> R (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
795795CONFLICTE -> G (in Ref. 1; CAE45879).might get lost (downstream of altered splice site)
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 4398 / 4398
position (AA) of stopcodon in wt / mu AA sequence 1466 / 1466
position of stopcodon in wt / mu cDNA 4658 / 4658
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 261 / 261
chromosome 10
strand 1
last intron/exon boundary 4521
theoretical NMD boundary in CDS 4210
length of CDS 4398
coding sequence (CDS) position 1708
cDNA position
(for ins/del: last normal base / first normal base)		 1968
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 MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHA QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKVTT GAVRPSDPPK
WERGMENSIS DASRTSEYKT EIIMKENSIS NMSLLRDSRN YSQETVPKAS FGFSGISPLE
DEINKGSKIS GLQYSIPDTE NQTLNYGKTK EMEKQNTDKC HVSSHTRLTE SSVHDFKTED
QEVITTDFGQ VVLRPKEARH ANVNPNEDGE SSSSSPTEEN AATDNIAFMI TETTVQVLSS
GEVHDIVSQK GEDIQTVNID ARKEMTPRQE GTDNEDPVVC LDKKPVIIIF DEPMDIRSAY
KRLSTIFEEC DEELERMMME EKIEEEEEEE NGDSVVQNNN TSQMSHKKVA PGNLRTGQQV
ETKSQPHSLA TETRNPGGQE MNRTELNKFS HVDSPNSECK GEDATDDQFE SPKKKFKFKF
PKKQLAALTQ AIRTGTKTGK KTLQVVVYEE EEEDGTLKQH KEAKRFEIAR SQPEDTPENT
VRRQEQPSIE STSPISRTDE IRKNTYRTLD SLEQTIKQLE NTISEMSPKA LVDTSCSSNR
DSVASSSHIA QEASPRPLLV PDEGPTALEP PTSIPSASRK GSSGAPQTSR MPVPMSAKNR
PGTLDKPGKQ SKLQDPRQYR QVVLP*
mutated AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHT QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKVTT GAVRPSDPPK
WERGMENSIS DASRTSEYKT EIIMKENSIS NMSLLRDSRN YSQETVPKAS FGFSGISPLE
DEINKGSKIS GLQYSIPDTE NQTLNYGKTK EMEKQNTDKC HVSSHTRLTE SSVHDFKTED
QEVITTDFGQ VVLRPKEARH ANVNPNEDGE SSSSSPTEEN AATDNIAFMI TETTVQVLSS
GEVHDIVSQK GEDIQTVNID ARKEMTPRQE GTDNEDPVVC LDKKPVIIIF DEPMDIRSAY
KRLSTIFEEC DEELERMMME EKIEEEEEEE NGDSVVQNNN TSQMSHKKVA PGNLRTGQQV
ETKSQPHSLA TETRNPGGQE MNRTELNKFS HVDSPNSECK GEDATDDQFE SPKKKFKFKF
PKKQLAALTQ AIRTGTKTGK KTLQVVVYEE EEEDGTLKQH KEAKRFEIAR SQPEDTPENT
VRRQEQPSIE STSPISRTDE IRKNTYRTLD SLEQTIKQLE NTISEMSPKA LVDTSCSSNR
DSVASSSHIA QEASPRPLLV PDEGPTALEP PTSIPSASRK GSSGAPQTSR MPVPMSAKNR
PGTLDKPGKQ SKLQDPRQYR QVVLP*
speed 1.20 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