mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999669660152009 (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)

chr14:24423007G>AN/A show variant in all transcripts IGV

HGNC symbol

DHRS4

Ensembl transcript ID

ENST00000382761

Genbank transcript ID

N/A

UniProt peptide

Q9BTZ2

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.29G>A
g.213G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs17099455

database	homozygous (A/A)	heterozygous	allele carriers
1000G	272	444	716
ExAC	1681	7195	8876

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 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)	-0.35	0
	0.729	0.001
(flanking)	-0.731	0

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

splice sites

splice site change before start ATG (at aa -18) | splice site change before start ATG (at aa -16) | splice site change before start ATG (at aa -15) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	203	wt: 0.40 / mu: 0.47	wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT	atcc\|ATGC
Donor increased	211	wt: 0.66 / mu: 0.92	wt: GCACAAGGCGGGGCT mu: GCACAAGACGGGGCT	ACAA\|ggcg
Donor marginally increased	206	wt: 0.9698 / mu: 0.9749 (marginal change - not scored)	wt: TCCATGCACAAGGCG mu: TCCATGCACAAGACG	CATG\|caca
Donor gained	209	0.55	mu: ATGCACAAGACGGGG	GCAC\|aaga

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
29	32	TURN		might get lost (downstream of altered splice site)
34	39	STRAND		might get lost (downstream of altered splice site)
36	60	NP_BIND	NADP (By similarity).	might get lost (downstream of altered splice site)
37	37	CONFLICT	V -> A (in Ref. 8; BAA91953).	might get lost (downstream of altered splice site)
43	54	HELIX		might get lost (downstream of altered splice site)
50	50	CONFLICT	R -> W (in Ref. 7; ABC61321).	might get lost (downstream of altered splice site)
58	64	STRAND		might get lost (downstream of altered splice site)
66	78	HELIX		might get lost (downstream of altered splice site)
83	87	STRAND		might get lost (downstream of altered splice site)
89	89	CONFLICT	H -> M (in Ref. 4; AAQ13444).	might get lost (downstream of altered splice site)
93	107	HELIX		might get lost (downstream of altered splice site)
102	102	CONFLICT	T -> M (in Ref. 1; AAD02292).	might get lost (downstream of altered splice site)
112	115	STRAND		might get lost (downstream of altered splice site)
126	126	CONFLICT	I -> L (in Ref. 1; AAD02292).	might get lost (downstream of altered splice site)
126	128	TURN		might get lost (downstream of altered splice site)
131	141	HELIX		might get lost (downstream of altered splice site)
143	158	HELIX		might get lost (downstream of altered splice site)
162	167	STRAND		might get lost (downstream of altered splice site)
169	169	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
170	172	HELIX		might get lost (downstream of altered splice site)
180	200	HELIX		might get lost (downstream of altered splice site)
182	182	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
201	203	HELIX		might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
221	223	HELIX		might get lost (downstream of altered splice site)
227	237	HELIX		might get lost (downstream of altered splice site)
245	248	HELIX		might get lost (downstream of altered splice site)
249	255	HELIX		might get lost (downstream of altered splice site)
258	260	HELIX		might get lost (downstream of altered splice site)
267	271	STRAND		might get lost (downstream of altered splice site)
276	278	MOTIF	Microbody targeting signal.	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

74 / 74

chromosome

strand

last intron/exon boundary

536

theoretical NMD boundary in CDS

412

length of CDS

513

coding sequence (CDS) position

N/A

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

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

213

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

24423007

original gDNA sequence snippet

TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT

altered gDNA sequence snippet

TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT

original cDNA sequence snippet

TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT

altered cDNA sequence snippet

TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT

wildtype AA sequence

MASSGMTRRD PLANKVALVT ASTDGIGFAI ARRLAQDGAH VVVSSRKQQN VDQAVATLQG
EGLSVTGTVC HVGKAEDRER LVATAVKLHG GIDILVSNAA VNPFFGSIMD VTEEVWDKRR
LSGDRVFHSS LQSISSLDGQ GKRGKHERNP ADKKVRRARG LCWHRVFPVL *

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