Annotation Detail for HAPLN3

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Basic Information Top

Gene Symbol:	HAPLN3 ( EXLD1,HsT19883 )
Gene Full Name:	hyaluronan and proteoglycan link protein 3
Band:	15q26.1
Quick Links	Entrez ID:145864; OMIM: NA; Uniprot ID:HPLN3_HUMAN; ENSEMBL ID: ENSG00000140511; HGNC ID: 21446
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:2 results

No data

Location(AA)	Modification	Resource
80	Phosphoserine(CDK)	HMM predict
357	Tyrosine	HMM predict

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

RefSeq ID: NM_178232
Location:chr15 87221523-87239773
strand:-

Upstream the gene:3 results
Downstream the gene:1 results
Inside the gene:13 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Rb	Senescent	GSE19898	87239705	87240043	338	101
Rb	shRbSenescence	GSE19898	87239701	87239944	243	49
p130	shRbSenescent	GSE19898	87239680	87239964	284	49

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	87221146	87221667	521	117

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	87222907	87223198	291	0
CTCF	CD4	GSE12889	87238564	87238778	214	0
CTCF	CD4	SISSRdata	87222907	87223198	291	0
CTCF	CD4	SISSRdata	87238564	87238778	214	0
CTCF	Jurkat	GSE12889	87238538	87238879	341	0
CTCF	G2	GSE9613	87222769	87223646	877	0
CTCF	G2	GSE9613	87238549	87239744	1195	0
Oct4	hES	GSE17917	87228967	87229236	269	0
Oct4	hES	GSE21916	87228759	87229471	712	0
hScc1	Bcell	GSE12603	87222947	87223393	446	0
hScc1	Bcell	GSE12603	87225630	87226033	403	0
hScc1	Bcell	GSE12603	87231335	87231531	196	0
hScc1	Bcell	GSE12603	87238549	87240016	1467	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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