Annotation Detail for HPCA

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Basic Information Top

Gene Symbol:	HPCA ( BDR2 )
Gene Full Name:	hippocalcin
Band:	1p35.1
Quick Links	Entrez ID:3208; OMIM: 142622; Uniprot ID:HPCA_HUMAN; ENSEMBL ID: ENSG00000121905; HGNC ID: 5144
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:1 results
Predicted PTM Sites by profile HMM from dbPTM:3 results

No data

Location(AA)	Modification	Resource
115	Phosphotyrosine(INSR)	HMM predict
144	Phosphothreonine(CDC2)	HMM predict
165	Phosphoserine(PKG)	HMM predict

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

RefSeq ID: NM_002143
Location:chr1 33124684-33132832
strand:+

Upstream the gene:7 results
Downstream the gene:0 results
Inside the gene:11 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	33122316	33122966	650	2044
GABP	HepG2	GSE8489	33121847	33122417	570	2553
NRSF	mAb	Jurkat	33116715	33117294	579	7680
NRSF	mAb	Jurkat	33123241	33123939	698	1095
Oct1	Hela	GSE14283	33122473	33122509	36	2194
SRF	GMO	GSE8489	33121847	33122200	353	2661
SRF	HepG2	GSE8489	33121847	33122200	353	2661

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	33131192	33131333	141	0
CTCF	CD4	SISSRdata	33131192	33131333	141	0
CTCF	G2	GSE9613	33125850	33126148	298	0
CTCF	G2	GSE9613	33130607	33131376	769	0
Myc	K562	GSE19551	33124744	33125154	410	0
NRSF	Jurkat	GSE13047	33123825	33125825	2000	0
NRSF	mAb	Jurkat	33124773	33127446	2673	0
NRSF	mAb	Jurkat	33130279	33130901	622	0
NRSF-mono	Jurkat	QuESTdata	33123736	33125818	2082	0
NRSF-poly	Jurkat	QuESTdata	33123817	33125787	1970	0
hScc1	Bcell	GSE12603	33130868	33131480	612	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
542	mRNA	HPCA	chr1	33021190	33029339	51	mRNA	BCLP	chr1	33029288	33036046	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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