mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.0577025938250679 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000489254

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

intron

DNA changes

g.24160G>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

21475

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
52	52	CONFLICT	Missing (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
75	179	COILED	Potential.	might get lost (downstream of altered splice site)
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	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

217 / 217

chromosome

strand

-1

last intron/exon boundary

1493

theoretical NMD boundary in CDS

1226

length of CDS

1338

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)

24160

chromosomal position
(for ins/del: last normal base / first normal base)

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTEVKCQHYK KKRTEQEETI ASLQMEVCRL KKEEEDRIVT QNRVFAYLCK RVPHTVLDRQ
LLCLIDYYES KIRKIHTQRQ YKEDESQSEE ENDYRNLDAS PTYKGLLMSL QNQLKESKSK
IDALSSEKLN LQKDLETRPT QHELRLYKQQ VKKLEKALKK NVKLQELINH KKAEDTEKKD
EPSKYNQQQA LIDQRYFQVL CSINSIIHNP RAPVIIYKQT KGGVQNFNKD LVQDCGFEHL
VPVIEMWADQ LTSLKDLYKS LKTLSAELVP WLNLKKQDEN EGIKVEDLLF IVDTMLEEVE
NKEKDSNMPH FQTLQAIVSH FQKLFDVPSL NGVYPRMNEV YTRLGEMNNA VRNLQELLEL
DSSSSLCVLV STVGKLCRLI NEDVNEQVMQ VLGPEDLQSI IYKLEEHEEF FPAFQAFTND
LLEILEIDDL DAIVPAVKKL KVLSY*

mutated AA sequence

N/A

speed

0.88 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