mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999998849517821 (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)

chr19:9646898G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF426

Ensembl transcript ID

ENST00000593003

Genbank transcript ID

N/A

UniProt peptide

Q9BUY5

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.467C>T
g.2406C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2042200

database	homozygous (A/A)	heterozygous	allele carriers
1000G	155	728	883
ExAC	1602	12425	14027

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.008	0
	-0.565	0
(flanking)	-0.687	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 increased	2412	wt: 0.69 / mu: 0.77	wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT	attt\|GTCC
Acc increased	2417	wt: 0.45 / mu: 0.60	wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT	tccc\|ATGG

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
42	112	DOMAIN	KRAB.	might get lost (downstream of altered splice site)
146	174	ZN_FING	C2H2-type 1; atypical.	might get lost (downstream of altered splice site)
224	246	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
280	302	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
308	330	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
336	358	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
364	386	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
392	414	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
420	442	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
448	470	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
476	498	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
504	526	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
532	554	ZN_FING	C2H2-type 12.	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

479 / 479

chromosome

strand

-1

last intron/exon boundary

773

theoretical NMD boundary in CDS

244

length of CDS

1551

coding sequence (CDS) position

N/A

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

467

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

2406

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

9646898

original gDNA sequence snippet

ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC

altered gDNA sequence snippet

ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC

original cDNA sequence snippet

ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGATTCA

altered cDNA sequence snippet

ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGATTCA

wildtype AA sequence

MDSVTFDDVA VDFTQEEWTL LDSTQRSLYS DVMLENYKNL ATVGGQIIKP SLISWLEQEE
SRTVQGGVLQ GWEMRLETQW SILQQDFLRG QTSIGIQLEG KHNGRELCDC EQCGEVFSEH
SCLKTHVRTQ STGNTHDCNQ YGKDFLTLCE KTSTGEKLSE FNQSEKIFSL TPNIVYQRTS
TQEKSFECSH CGKSFINESY LQAHMRTHNG EKLYEWRNYG PGFIDSTSLS VLIETLNAKK
PYKCKECGKG YRYPAYLSIH MRTHTGEKPY ECKECGKAFN YSNSFQIHGR THTGEKPYVC
KECGKAFTQY SGLSMHVRSH SGDKPYECKE CGKSFLTSSR LIQHIRTHTG EKPFVCVECG
KAFAVSSNLS GHLRTHTEEK ACECKICGKV FGYPSCLNNH MRTHSAQKPY TCKECGKAFN
YSTHLKIHMR IHTGEKPYEC KQCGKAFSHS SSFQIHERTH TGEKPYECKE CGKAFTCSSS
FRIHEKTHTE EKPYKCQQCG KAYSHPRSLR RHEQIH*

mutated AA sequence

N/A

speed

0.81 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