Annotation Detail for UCHL5

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Basic Information Top

Gene Symbol:	UCHL5 ( CGI-70,INO80R,UCH37 )
Gene Full Name:	ubiquitin carboxyl-terminal hydrolase L5
Band:	1q31.2
Quick Links	Entrez ID:51377; OMIM: 610667; Uniprot ID:UCHL5_HUMAN; ENSEMBL ID: ENSG00000116750; HGNC ID: 19678
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:2 results

Location(AA)	Modification
158	N6-acetyllysine.

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

RefSeq ID: NM_015984
Location:chr1 191251522-191295143
strand:-

Upstream the gene:5 results
Downstream the gene:0 results
Inside the gene:16 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
E2F4	G0	GSE7516	191294819	191295587	768	60
LIN9	G0	GSE7516	191294754	191295666	912	67
PHF8	Hs68minusFBS	GSE20725	191294239	191296082	1843	17
p130	Quiescent	GSE19898	191295039	191295396	357	74
p130	shRbQuiescent	GSE19898	191294399	191295941	1542	27

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	191294152	191295778	1626	0
FoxA1	MCF7	MACSdata	191272199	191272484	285	0
H3K4me2	HCT116	GSE10453	191293079	191293549	470	0
H3K4me3	colorectal	cancer	191294004	191294781	777	0
H3ac	HepG2	E	191292710	191293678	968	0
H3ac	HepG2	E	191294004	191295001	997	0
Nanog	ES	GSE20650	191275728	191276174	446	0
Oct1	Hela	GSE14283	191278065	191278108	43	0
Oct1	Hela	GSE14283	191283703	191283732	29	0
PHF8	Hs68plusFBS	GSE20725	191294012	191296146	2134	0
RARA	MCF7	GSE15244	191294004	191294781	777	0
TAF	Hela	GSE8489	191294004	191294491	487	0
TAF	k562	GSE8489	191292710	191293678	968	0
TAF	k562	GSE8489	191294004	191295001	997	0
hScc1	Bcell	GSE12603	191294527	191295666	1139	0
hScc1	CdLS	GSE12603	191255176	191255553	377	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
2090	mRNA	SSA2	chr1	189760820	189786771	26	HTC	UCHL5	chr1	189759123	189760846	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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