mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.09187865938863e-11 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:3381369G>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF195

Ensembl transcript ID

ENST00000438262

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.876C>G
g.19080C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs62619253

database	homozygous (C/C)	heterozygous	allele carriers
1000G	173	775	948
ExAC	2242	15706	17948

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.47	0.871
	1.342	0.881
(flanking)	3.222	0.871

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

splice sites

splice site change occurs after stopcodon (at aa 239) splice site change occurs after stopcodon (at aa 240)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	19076	wt: 0.44 / mu: 0.55	wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT	actg\|AACC
Acc increased	19072	wt: 0.31 / mu: 0.45	wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA	cttt\|ACTG
Donor marginally increased	19073	wt: 0.3487 / mu: 0.3519 (marginal change - not scored)	wt: ACTTTACTGAACCTG mu: ACTTTACTGAACGTG	TTTA\|ctga
Donor gained	19074	0.87	mu: CTTTACTGAACGTGA	TTAC\|tgaa

distance from splice site

143

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

155 / 155

chromosome

strand

-1

last intron/exon boundary

450

theoretical NMD boundary in CDS

245

length of CDS

273

coding sequence (CDS) position

N/A

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

876

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

19080

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

3381369

original gDNA sequence snippet

GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG

altered gDNA sequence snippet

GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG

original cDNA sequence snippet

GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG

altered cDNA sequence snippet

GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG

wildtype AA sequence

MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPG IFFVVTMEII *

mutated AA sequence

N/A

speed

1.10 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