Annotation Detail for RBX1

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Basic Information Top

Gene Symbol:	RBX1 ( BA554C12.1,FLJ60363,MGC13357,MGC1481,RNF75,ROC1 )
Gene Full Name:	ring-box 1, E3 ubiquitin protein ligase
Band:	22q13.2
Quick Links	Entrez ID:9978; OMIM: 603814; Uniprot ID:RBX1_HUMAN; ENSEMBL ID: ENSG00000100387,ENSG00000196236; HGNC ID: 9928
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:2 results

Location(AA)	Modification
2	N-acetylalanine.
11	Phosphoserine.

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

RefSeq ID: NM_014248
Location:chr22 39677330-39698611
strand:+

Upstream the gene:8 results
Downstream the gene:0 results
Inside the gene:17 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	39676742	39677366	624	277
PHF8	293T	GSE20725	39676211	39678176	1965	137
PHF8	Hs68minusFBS	GSE20725	39676223	39677565	1342	437
Rb	shRbQuiescent	GSE19898	39677161	39677372	211	64
hScc1	Bcell	GSE12603	39676598	39677401	803	331
p130	Quiescent	GSE19898	39676461	39676697	236	752
p130	Quiescent	GSE19898	39677068	39677566	498	14
p130	Senescent	GSE19898	39676523	39676903	380	618

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	39676708	39678387	1679	0
Fos	K562	GSE19551	39677348	39677906	558	0
H3K4me3	colorectal	cancer	39678039	39678441	402	0
H3ac	HepG2	E	39677649	39678258	609	0
NFkBII	GM15510	GSE19485	39676301	39678692	2391	0
NFkBII	GM18526	GSE19485	39676379	39678775	2396	0
PHF8	HeLa	GSE20725	39676402	39678368	1966	0
Pol2	GM12878	GSE19551	39676351	39678613	2262	0
Rb	Growing	GSE19898	39677489	39677876	387	0
Rb	Quiescent	GSE19898	39677380	39677757	377	0
Rb	Senescent	GSE19898	39677162	39678080	918	0
USF1	HepG2	E	39677292	39678187	895	0
p130	Quiescent	GSE19898	39677579	39677814	235	0
p130	Quiescent	GSE19898	39677817	39678021	204	0
p130	Senescent	GSE19898	39676973	39677977	1004	0
p130	shRbQuiescent	GSE19898	39677177	39677979	802	0
p130	shRbSenescent	GSE19898	39677149	39678135	986	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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