Annotation Detail for UBA52

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Basic Information Top

Gene Symbol:	UBA52 ( CEP52,HUBCEP52,MGC126879,MGC126881,MGC57125,RPL40 )
Gene Full Name:	ubiquitin A-52 residue ribosomal protein fusion product 1
Band:	19p13.1-p12
Quick Links	Entrez ID:7311; OMIM: 191321; Uniprot ID:RL40_HUMAN; ENSEMBL ID: ENSG00000221983; HGNC ID: 12458
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:5 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:4 results

Location(AA)	Modification
6	N6-acetyllysine.
48	N6-acetyllysine.
57	Phosphoserine (By similarity).
65	Phosphoserine.
98	N6,N6,N6-trimethyllysine (By similarity).

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

RefSeq ID: NM_001033930
Location:chr19 18543613-18549268
strand:+

Upstream the gene:14 results
Downstream the gene:0 results
Inside the gene:10 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	18543002	18544200	1198	13
Myc	hES	GSE17917	18543453	18543731	278	22
P300	T0-glioblastoma	GSE21026	18543003	18543876	873	174
P300	T30-glioblastoma	GSE21026	18542825	18544069	1244	167
Rb	Growing	GSE19898	18543272	18543468	196	244
Rb	Quiescent	GSE19898	18543306	18543755	449	83
Rb	Senescent	GSE19898	18543203	18543683	480	171
TFAP2C	MCF7	GSE21234	18543138	18543703	565	193
VDR	GM10861-Unstim	GSE22484	18542754	18544250	1496	112
VDR	GM10861-stim	GSE22484	18542733	18544290	1557	102
hScc1	Bcell	GSE12603	18543141	18543379	238	354
p130	Quiescent	GSE19898	18543380	18543600	220	124
p130	Senescent	GSE19898	18543358	18543717	359	76
p130	shRbSenescent	GSE19898	18543306	18543707	401	107

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me3	colorectal	cancer	18543536	18544102	566	0
H3K4me3	colorectal	cancer	18544456	18545090	634	0
H3ac	HepG2	E	18543832	18544102	270	0
H3ac	HepG2	E	18544456	18545640	1184	0
Myc	K562	GSE19551	18543125	18544189	1064	0
PHF8	HeLa	GSE20725	18543057	18544290	1233	0
TAF	Hela	GSE8489	18543872	18544102	230	0
TAF	Hela	GSE8489	18544456	18545640	1184	0
TAF	k562	GSE8489	18543832	18544102	270	0
TAF	k562	GSE8489	18544456	18545347	891	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
12908	mRNA	UBA52	chr19	18543667	18547050	30	HTC		chr19	18543348	18566245	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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