mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.972514783863178 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1111300)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:38028634G>TN/A show variant in all transcripts IGV

HGNC symbol

ZPBP2

Ensembl transcript ID

ENST00000584588

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.4218G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs11557467

database	homozygous (T/T)	heterozygous	allele carriers
1000G	377	1147	1524
ExAC	12562	7643	20205

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111300)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.667	0.462
	1.016	0.43
(flanking)	-0.181	0.306

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

splice sites

no abrogation of potential splice sites

distance from splice site

663

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

140 / 140

chromosome

strand

last intron/exon boundary

810

theoretical NMD boundary in CDS

620

length of CDS

798

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)

4218

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

38028634

original gDNA sequence snippet

GCTGAAGAAAATCTTGGATAGTCTAATTTCTGATTTGTCAT

altered gDNA sequence snippet

GCTGAAGAAAATCTTGGATATTCTAATTTCTGATTTGTCAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MMRTCVLLSA VLWCLTGVQC PRFTLFNKKG FIYGKTGQPD KIYVELHQNS PVLICMDFKL
SKKEIVDPTY LWIGPNEKTL TGNNRINITE TGQLMVKDFL EPLSGLYTCT LSYKTVKAET
QEEKTVKKRY DFMVFVNPFA PGWKGACNGS VDCEDTTNHN ILQARDRIED FFRSQAYIFY
HNFNKTLPAM HFVDHSLQVV RLDSCRPGFG KNERLHSNCA SCCVVCSPAT FSPDVNVTCQ
TCVSVLTYGA KSCPQTSNKN QQYED*

mutated AA sequence

N/A

speed

0.80 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