Annotation Detail for HPRT1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	HPRT1 ( HGPRT,HPRT )
Gene Full Name:	hypoxanthine phosphoribosyltransferase 1
Band:	Xq26.2-q26.3
Quick Links	Entrez ID:3251; OMIM: 308000; Uniprot ID:HPRT_HUMAN; ENSEMBL ID: ENSG00000165704; HGNC ID: 5157
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:1 results
Predicted PTM Sites by profile HMM from dbPTM:4 results

Location(AA)	Modification
2	N-acetylalanine.

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

RefSeq ID: NM_000194
Location:chrX 133421922-133462361
strand:+

Upstream the gene:1 results
Downstream the gene:2 results
Inside the gene:8 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Rb	Senescent	GSE19898	133421661	133422047	386	69

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	133473757	133474096	339	11565
P300	T30-glioblastoma	GSE21026	133474073	133474788	715	12069

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	133445867	133446086	219	0
CTCF	CD4	SISSRdata	133445867	133446086	219	0
CTCF	G2	GSE9613	133421853	133422105	252	0
NRSF	mAb	Jurkat	133422820	133423077	257	0
PHF8	293T	GSE20725	133421386	133422463	1077	0
RARG	MCF7	GSE15244	133422710	133423077	367	0
hScc1	Bcell	GSE12603	133421744	133422247	503	0
p130	shRbSenescent	GSE19898	133421800	133422091	291	0

Validated miRNA targets

miR Walk:16 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-130b	hsa-mir-130b	22	20378769
hsa-miR-130b*	hsa-mir-130b	22	20378769
hsa-miR-141	hsa-mir-141	12	20378769
hsa-miR-141*	hsa-mir-141	12	20378769
hsa-miR-149	hsa-mir-149	2	20378769
hsa-miR-149*	hsa-mir-149	2	20378769
hsa-miR-155	hsa-mir-155	21	20378769
hsa-miR-155*	hsa-mir-155	21	20378769
hsa-miR-200c	hsa-mir-200c	12	20378769
hsa-miR-200c*	hsa-mir-200c	12	20378769
hsa-miR-205	hsa-mir-205	1	20378769
hsa-miR-210	hsa-mir-210	11	20378769
hsa-miR-222	hsa-mir-222	X	20378769
hsa-miR-222*	hsa-mir-222	X	20378769
hsa-miR-96	hsa-mir-96	7	20378769
hsa-miR-96*	hsa-mir-96	7	20378769

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

Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved