Annotation Detail for CAV3

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Basic Information Top

Gene Symbol:	CAV3 ( LGMD1C,LQT9,MGC126100,MGC126101,MGC126129,VIP-21,VIP21 )
Gene Full Name:	caveolin 3
Band:	3p25.3
Quick Links	Entrez ID:859; OMIM: 601253; Uniprot ID:CAV3_HUMAN; ENSEMBL ID: ENSG00000182533; HGNC ID: 1529
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:1 results

No data

Location(AA)	Modification	Resource
94	S-palmitoyl	HMM predict

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

RefSeq ID: NM_001234
Location:chr3 8750495-8763449
strand:+

Upstream the gene:9 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
CTCF	G2	GSE9613	8749927	8750392	465	336
FOXA1	MCF7	GSE15244	8740919	8741743	824	9165
Nanog	ES	GSE20650	8730971	8731647	676	19187
Nanog	hES	GSE18292	8731231	8731486	255	19137
Oct4	hES	GSE21916	8730994	8731663	669	19167
RARA	MCF7	GSE15244	8740919	8741846	927	9113
RARA	MCF7	GSE15244	8746669	8746954	285	3684
RARG	MCF7	GSE15244	8740919	8741887	968	9093
hScc1	Bcell	GSE12603	8749852	8750509	657	315

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	8754380	8755169	789	0
CTCF	G2	GSE9613	8758592	8758768	176	0
CTCF	G2	GSE9613	8762416	8762761	345	0
FOXA1	MCF7	GSE15244	8756808	8757478	670	0
FOXA1	MCF7	GSE15244	8758074	8758841	767	0
Fos	K562	GSE19551	8758174	8758571	397	0
Nanog	hES	GSE18292	8759073	8759449	376	0
P300	T30-glioblastoma	GSE21026	8756525	8757435	910	0
RARA	MCF7	GSE15244	8756808	8758371	1563	0
Sox2	hES	GSE18292	8759245	8759450	205	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
17743	mRNA	CAV3	chr3	8750495	8763450	11227	mRNA	LOC51066	chr3	8636286	8761722	Non-exonic Bidirectional (NOB) 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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