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Data summary

Publications : 1001
Phenotypes : 178
Genes : 207
Mutations : 4631
SNVs : 3422
InDels : 1209
Last Update : 22/02/2019

Detailed information for RetinalMD_04573

Basic information

location	chr4:6304030-6304030 (hg19)
gene symbol	WFS1 (Reference)
band	4p16.1
reference	G
observed	C
disease	Wolfram syndrome
PubMed ID	20069065
ethnicity	Dutch
description	WFS1,NM_006005,exon8,c.2508G>C,p.K836N;WFS1,NM_001145853,exon8,c.2508G>C,p.K836N (Reference)

MGI

MGI ID	1328355
MGI phenotype	integument phenotype

OMIM

OMIM ID	606201
OMIM phenotype	Diabetes mellitus, noninsulin-dependent, association with

Genome feature annotation

segmental duplication	conserved TFBS	Encode TFBS	DNase I hypersensitivity sites
	Score=1.73;Name=V$NKX25_01

wgEncodeBroadHmm feature annotation

Gm12878	H1hesc	Hepg2	Hmec	Hsmm	Huvec	K562	Nhek	Nhlf
11_Weak_Txn

ESP and CG annotation

ESP5400	ESP5400_aa	ESP5400_ea	ESP6500	ESP6500_aa	ESP6500_ea	ESP6500si	ESP6500si_aa	ESP6500si_ea	CG46	CG69
									-	-

dbSNP annotation

snp137	snp135	snp132	snp131	snp130	snp129	snp137_NonFlagged	snp135_NonFlagged	snp132_NonFlagged	snp131_NonFlagged	snp130_NonFlagged

1000 genomes annotation

2012apr	2012apr_eur	2012apr_amr	2012apr_asn	2012apr_afr	2012feb	2011may	2010nov

Functional prediction

SIFT	SIFT predict	PolyPhen2	PolyPhen2 predict	phyloP	phyloP predict	LRT	LRT predict	MT	MT predict	GERP++	GERP++ predict	GERP++elem	GERP++gt2
0.02	D	0.906	P	0.999391	P	1	D	0.876888	D			5351.2	4.82

Conserved and constrained region annotation

multiz46way
phastcons46way	Score=11.648;Name=chr4.1695223
phylop46way

RNA function annotation

human_predictions_S_C_aug2010	human_predictions_S_0_aug2010	human_predictions_0_C_aug2010	human_predictions_0_0_aug2010	circRNAs sebastian memczak	conserved functional RNA