mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 6.14126284710194e-12 (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)

chr20:30449325C>GN/A show variant in all transcripts IGV

HGNC symbol

DUSP15

Ensembl transcript ID

ENST00000278979

Genbank transcript ID

N/A

UniProt peptide

Q9H1R2

alteration type

single base exchange

alteration region

intron

DNA changes

g.9226G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs947310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	523	721	1244
ExAC	1369	4032	5401

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.515	1
	-0.028	0.997
(flanking)	1.497	1

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
Donor increased	9227	wt: 0.87 / mu: 0.97	wt: AACCGTGCAGCGCCT mu: AACCCTGCAGCGCCT	CCGT\|gcag
Donor marginally increased	9218	wt: 0.9472 / mu: 0.9742 (marginal change - not scored)	wt: CTCCGAGGGAACCGT mu: CTCCGAGGGAACCCT	CCGA\|ggga

distance from splice site

1049

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
139	142	HELIX		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

78 / 78

chromosome

strand

-1

last intron/exon boundary

804

theoretical NMD boundary in CDS

676

length of CDS

888

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)

9226

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

30449325

original gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCGTGCAGCGCCTGGTGCCGCGC

altered gDNA sequence snippet

CAGCAGCCTCCGAGGGAACCCTGCAGCGCCTGGTGCCGCGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTEGVLPGLY LGNFIDAKDL DQLGRNKITH IISIHESPQP LLQDITYLRI PVADTPEVPI
KKHFKECINF IHCCRLNGGN CLVHCFAGIS RSTTIVTAYV MTVTGLGWRD VLEAIKATRP
IANPNPGFRQ QLEEFGWASS QKGARHRTSK TSGAQCPPMT SATCLLAARV ALLSAALVRE
ATGRTAQRCR LSPRAAAERL LGPPPHVAAG WSPDPKYQIC LCFGEEDPGP TQHPKEQLIM
ADVQVQLRPG SSSCTLSAST ERPDGSSTPG NPDGITHLQC SCLHPKRAAS SSCTR*

mutated AA sequence

N/A

speed

0.89 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