mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000240731

Genbank transcript ID

NM_006385

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	0.001

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	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC

distance from splice site

786

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

120 / 120

chromosome

strand

last intron/exon boundary

376

theoretical NMD boundary in CDS

206

length of CDS

1734

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGCWCG VEHEETPSEQ RISGERVPQF RTSKEGSSSQ
NADSCEICCL VLRDILHLAE HQGTNCGQKL HTCGKQFYIS ANLQQHQRQH ITEAPFRSYV
DTASFTQSCI VHVSEKPFTC REIRKDFLAN MRFLHQDATQ TGEKPNNSNK CAVAFYSGKS
HHNWGKCSKA FSHIDTLVQD QRILTREGLF ECSKCGKACT RRCNLIQHQK VHSEERPYEC
NECGKFFTYY SSFIIHQRVH TGERPYACPE CGKSFSQIYS LNSHRKVHTG ERPYECGECG
KSFSQRSNLM QHRRVHTGER PYECSECGKS FSQNFSLIYH QRVHTGERPH ECNECGKSFS
RSSSLIHHRR LHTGERPYEC SKCGKSFKQS SSFSSHRKVH TGERPYVCGE CGKSFSHSSN
LKNHQRVHTG ERPVECSECS KSFSCKSNLI KHLRVHTGER PYECSECGKS FSQSSSLIQH
RRVHTGKRPY QCSQCGKSFG CKSVLIQHQR VHIGEKP*

mutated AA sequence

N/A

speed

0.78 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