mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999883933458 (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)

chr9:130475442A>CN/A show variant in all transcripts IGV

HGNC symbol

CFAP157

Ensembl transcript ID

ENST00000373293

Genbank transcript ID

N/A

UniProt peptide

Q5JU67

alteration type

single base exchange

alteration region

intron

DNA changes

g.6175A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs497632

database	homozygous (C/C)	heterozygous	allele carriers
1000G	780	1128	1908
ExAC	19537	-6307	13230

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.532	0.004
	0.096	0.001
(flanking)	-0.132	0

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
Acc marginally increased	6176	wt: 0.4559 / mu: 0.5241 (marginal change - not scored)	wt: GACCTCAGGCTGCTGTCATATATCACCCGTGTGGGGACCTT mu: GACCTCAGGCTGCTGTCATCTATCACCCGTGTGGGGACCTT	atat\|ATCA
Acc increased	6185	wt: 0.48 / mu: 0.74	wt: CTGCTGTCATATATCACCCGTGTGGGGACCTTCCGGGCACA mu: CTGCTGTCATCTATCACCCGTGTGGGGACCTTCCGGGCACA	ccgt\|GTGG
Acc marginally increased	6183	wt: 0.9300 / mu: 0.9695 (marginal change - not scored)	wt: GGCTGCTGTCATATATCACCCGTGTGGGGACCTTCCGGGCA mu: GGCTGCTGTCATCTATCACCCGTGTGGGGACCTTCCGGGCA	accc\|GTGT
Donor marginally increased	6180	wt: 0.5044 / mu: 0.5261 (marginal change - not scored)	wt: ATATCACCCGTGTGG mu: CTATCACCCGTGTGG	ATCA\|cccg
Acc gained	6180	0.50	mu: TCAGGCTGCTGTCATCTATCACCCGTGTGGGGACCTTCCGG	atca\|CCCG

distance from splice site

288

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
33	189	COILED	Potential.	might get lost (downstream of altered splice site)
236	372	COILED	Potential.	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

736 / 736

chromosome

strand

last intron/exon boundary

987

theoretical NMD boundary in CDS

201

length of CDS

381

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)

6175

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

130475442

original gDNA sequence snippet

GGACCTCAGGCTGCTGTCATATATCACCCGTGTGGGGACCT

altered gDNA sequence snippet

GGACCTCAGGCTGCTGTCATCTATCACCCGTGTGGGGACCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGTEVGISWT RVGTGATVGL LPPHPHQQMH RDEEDSDVDV TFQPWHKEML QQLLVMLSST
VATRPQKAAC PHQESQSHGP PKESVPWAPT QRSGNAEQRC SGEGARRRGP ETRPLRTPEG
WAGRAP*

mutated AA sequence

N/A

speed

0.54 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