Annotation Detail for RPRD1A

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Basic Information Top

Gene Symbol:	RPRD1A ( FLJ10656,HsT3101,MGC19513,P15RS )
Gene Full Name:	regulation of nuclear pre-mRNA domain containing 1A
Band:	18q12.2
Quick Links	Entrez ID:55197; OMIM: 610347; Uniprot ID:RPR1A_HUMAN; ENSEMBL ID: ENSG00000141425; HGNC ID: 25560
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
2	N-acetylserine.

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

RefSeq ID: NM_018170
Location:chr18 31823791-31901370
strand:-

Upstream the gene:8 results
Downstream the gene:0 results
Inside the gene:12 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3ac	HepG2	E	31909197	31909392	195	7924
P300	T30-glioblastoma	GSE21026	31909575	31910508	933	8671
PHF8	293T	GSE20725	31900511	31902241	1730	6
PHF8	HeLa	GSE20725	31900860	31901960	1100	40
RNAII	Tamoxifen-MCF7	GSE14664	31916285	31916321	36	14933
Rb	Senescent	GSE19898	31901057	31901760	703	38
hScc1	Bcell	GSE12603	31901193	31901739	546	96
p130	shRbQuiescent	GSE19898	31901163	31901797	634	110

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	31851715	31851938	223	0
CTCF	CD4	SISSRdata	31851715	31851938	223	0
H3K4me3	colorectal	cancer	31899975	31900799	824	0
H3ac	HepG2	E	31899869	31901042	1173	0
Oct1	Hela	GSE14283	31833979	31834018	39	0
Oct1	Hela	GSE14283	31834717	31834797	80	0
Oct1	Hela	GSE14283	31843493	31843524	31	0
Oct1	Hela	GSE14283	31862790	31862824	34	0
PHF8	Hs68plusFBS	GSE20725	31900793	31901921	1128	0
hScc1	Bcell	GSE12603	31851280	31851981	701	0
p130	Senescent	GSE19898	31901135	31901594	459	0
p130	shRbSenescent	GSE19898	31901022	31901705	683	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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