mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999882116632 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:71232687T>CN/A show variant in all transcripts IGV

HGNC symbol

C17orf80

Ensembl transcript ID

ENST00000582793

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.4316T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs745143

database	homozygous (C/C)	heterozygous	allele carriers
1000G	698	1205	1903
ExAC	16788	-809	15979

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.001
	0.045	0
(flanking)	0.303	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	4323	wt: 0.7501 / mu: 0.7715 (marginal change - not scored)	wt: ACATTTAAGTTTGTTCATTCCGAGGGAGACGACTTACCAGT mu: ACATTTAAGTTTGCTCATTCCGAGGGAGACGACTTACCAGT	ttcc\|GAGG

distance from splice site

3223

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

181 / 181

chromosome

strand

last intron/exon boundary

317

theoretical NMD boundary in CDS

length of CDS

237

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)

4316

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

71232687

original gDNA sequence snippet

AAAGACCACATTTAAGTTTGTTCATTCCGAGGGAGACGACT

altered gDNA sequence snippet

AAAGACCACATTTAAGTTTGCTCATTCCGAGGGAGACGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRLLGAVQKG WIRCNTTIRK SGFGGITMLF TGYFVLCCSW SFRRLKKLCR PLPWKSTVPP
CIGVAKTTGD CRSKTCLD*

mutated AA sequence

N/A

speed

0.74 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