Annotation Detail for RPN2

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Basic Information Top

Gene Symbol:	RPN2 ( RIBIIR,RPN-II,RPNII,SWP1 )
Gene Full Name:	ribophorin II
Band:	20q11.23
Quick Links	Entrez ID:6185; OMIM: 180490; Uniprot ID:RPN2_HUMAN; ENSEMBL ID: ENSG00000118705; HGNC ID: 10382
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:0 results

Location(AA)	Modification
106	N-linked (GlcNAc...).
282	Phosphothreonine.

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

RefSeq ID: NM_002951
Location:chr20 35240887-35303436
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:19 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T30-glioblastoma	GSE21026	35263634	35264757	1123	0
CTCF	CD4	GSE12889	35254160	35254389	229	0
CTCF	CD4	GSE12889	35257418	35257651	233	0
CTCF	CD4	GSE12889	35264183	35264451	268	0
CTCF	CD4	SISSRdata	35254160	35254389	229	0
CTCF	CD4	SISSRdata	35257418	35257651	233	0
CTCF	CD4	SISSRdata	35264183	35264451	268	0
CTCF	Hela	GSE12889	35254109	35254368	259	0
CTCF	G2	GSE9613	35254051	35254345	294	0
CTCF	G2	GSE9613	35257481	35257795	314	0
H3K4me3	colorectal	cancer	35242298	35242474	176	0
H3ac	HepG2	E	35242298	35242724	426	0
P300	T30-glioblastoma	GSE21026	35263497	35264740	1243	0
Rb	Quiescent	GSE19898	35241289	35241597	308	0
Sox2	hES	GSE18292	35291267	35291588	321	0
hScc1	Bcell	GSE12603	35257481	35257853	372	0
hScc1	CdLS	GSE12603	35257181	35257719	538	0
hScc1	G2	GSE9613	35257481	35257758	277	0
p130	Senescent	GSE19898	35241729	35242134	405	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
16333	mRNA	RPN2	chr20	35240887	35303437	147	mRNA	C20orf132	chr20	35163043	35241388	Sense/Antisense (SA) pairs

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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