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
protein features (might be) affected
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

ENST00000528796

Genbank transcript ID

N/A

UniProt peptide

O14628

alteration type

single base exchange

alteration region

intron

DNA changes

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

effect	gDNA position	score	wt 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

10836

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
76	243	REGION	Spacer.	might get lost (downstream of altered splice site)
244	266	ZN_FING	C2H2-type 1.	might get lost (downstream of altered splice site)
272	294	ZN_FING	C2H2-type 2; degenerate.	might get lost (downstream of altered splice site)
290	290	CONFLICT	P -> R (in Ref. 2; BAG53114).	might get lost (downstream of altered splice site)
352	407	CONFLICT	Missing (in Ref. 2; BAD18466).	might get lost (downstream of altered splice site)
408	408	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
410	432	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
438	460	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
466	488	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
494	516	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
522	544	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
550	572	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
558	558	CONFLICT	V -> A (in Ref. 1; AAB86596).	might get lost (downstream of altered splice site)
570	570	CONFLICT	K -> Q (in Ref. 1; AAB86596).	might get lost (downstream of altered splice site)
578	600	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
606	628	ZN_FING	C2H2-type 10.	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

94 / 94

chromosome

strand

-1

last intron/exon boundary

320

theoretical NMD boundary in CDS

176

length of CDS

240

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPGQHG*

mutated AA sequence

N/A

speed

0.83 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