mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999503347827 (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)

chr3:75786748C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF717

Ensembl transcript ID

ENST00000477374

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.47987G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs112332186

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	1551	5666	7217

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.655	0.004
	-2.299	0
(flanking)	-0.932	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
Donor marginally increased	47989	wt: 0.9754 / mu: 0.9927 (marginal change - not scored)	wt: ATGGATGTAATGAAT mu: ATGAATGTAATGAAT	GGAT\|gtaa
Donor marginally increased	47984	wt: 0.8314 / mu: 0.8515 (marginal change - not scored)	wt: ACCGTATGGATGTAA mu: ACCGTATGAATGTAA	CGTA\|tgga

distance from splice site

3679

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

173 / 173

chromosome

strand

-1

last intron/exon boundary

512

theoretical NMD boundary in CDS

289

length of CDS

345

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)

47987

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

75786748

original gDNA sequence snippet

ACACGGGGAAAAACCGTATGGATGTAATGAATGTGGAAAAA

altered gDNA sequence snippet

ACACGGGGAAAAACCGTATGAATGTAATGAATGTGGAAAAA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS
LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSGGSKKQVF SGICHRSLVE LQEV*

mutated AA sequence

N/A

speed

1.00 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