Annotation Detail for NR2E3

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Basic Information Top

Gene Symbol:	NR2E3 ( ESCS,MGC49976,PNR,RNR,RP37,rd7 )
Gene Full Name:	nuclear receptor subfamily 2, group E, member 3
Band:	15q23
Quick Links	Entrez ID:10002; OMIM: 604485; Uniprot ID:NR2E3_HUMAN; ENSEMBL ID: ENSG00000031544; HGNC ID: 7974
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:2 results
Predicted PTM Sites by profile HMM from dbPTM:15 results

Location(AA)	Modification
333	Phosphothreonine.

Location(AA)	Modification	Resource
6	Phosphothreonine(PKA)	HMM predict
24	O-linked	HMM predict
126	Phosphoserine(IKK)	HMM predict
145	Phosphoserine(IKK)	HMM predict
156	Phosphoserine(CDK)	HMM predict
156	Phosphoserine(CDC2)	HMM predict
156	O-linked	HMM predict
207	Phosphoserine(CDC2)	HMM predict
207	Phosphoserine(ATM)	HMM predict
210	O-linked	HMM predict
210	Phosphoserine(IKK)	HMM predict
211	O-linked	HMM predict
354	Phosphoserine(ATM)	HMM predict
363	Phosphoserine(ATM)	HMM predict
398	Phosphothreonine(MAPK)	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_016346
Location:chr15 69889947-69894323
strand:+

Upstream the gene:11 results
Downstream the gene:0 results
Inside the gene:1 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	69878083	69878395	312	11709
CTCF	G2	GSE9613	69880491	69881020	529	9192
CTCF	G2	GSE9613	69882036	69882414	378	7723
Oct1	H2O2-Hela	GSE14283	69876633	69876680	47	13291
Oct1	Hela	GSE14283	69876635	69876677	42	13292
Oct1	Hela	GSE14283	69888007	69888068	61	1910
hScc1	Bcell	GSE12603	69878153	69878395	242	11674
hScc1	Bcell	GSE12603	69880266	69881309	1043	9160
hScc1	Bcell	GSE12603	69887530	69887789	259	2288
hScc1	CdLS	GSE12603	69880266	69881096	830	9267
p130	Senescent	GSE19898	69887328	69887579	251	2494

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
hScc1	Bcell	GSE12603	69891419	69891633	214	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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