Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.12575236694133e-15 (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) chr12:89917518A>GN/A show variant in all transcripts   IGV
HGNC symbol POC1B
Ensembl transcript ID ENST00000313546
Genbank transcript ID NM_172240
UniProt peptide Q8TC44
alteration type single base exchange
alteration region intron
DNA changes g.2284T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2276wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased2278wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased2285wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
Donor marginally increased2281wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
distance from splice site 1379
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1655REPEATWD 1.might get lost (downstream of altered splice site)
5899REPEATWD 2.might get lost (downstream of altered splice site)
101139REPEATWD 3.might get lost (downstream of altered splice site)
142181REPEATWD 4.might get lost (downstream of altered splice site)
183223REPEATWD 5.might get lost (downstream of altered splice site)
226265REPEATWD 6.might get lost (downstream of altered splice site)
268307REPEATWD 7.might get lost (downstream of altered splice site)
321321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
370375COMPBIASPoly-Thr.might get lost (downstream of altered splice site)
414414MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
431470COILEDPotential.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 130 / 130
chromosome 12
strand -1
last intron/exon boundary 1462
theoretical NMD boundary in CDS 1282
length of CDS 1437
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 2284
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLATASWDT FLMLWNFKPH ARAYRYVGHK
DVVTSVQFSP HGNLLASASR DRTVRLWIPD KRGKFSEFKA HTAPVRSVDF SADGQFLATA
SEDKSIKVWS MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN
NFSDSVGFAN FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG
NYLITASSDG TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN
FDELHCKGLT KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP
VMDILSFDST TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES
QRSIPLAVTD ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS*
mutated AA sequence N/A
speed 0.85 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