Annotation Detail for HMBS

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Basic Information Top

Gene Symbol:	HMBS ( PBG-D,PBGD,PORC,UPS )
Gene Full Name:	hydroxymethylbilane synthase
Band:	11q23.3
Quick Links	Entrez ID:3145; OMIM: 609806; Uniprot ID:HEM3_HUMAN; ENSEMBL ID: ENSG00000149397; HGNC ID: 4982
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:4 results

Location(AA)	Modification
15	Phosphoserine.
261	S-(dipyrrolylmethanemethyl)cysteine.

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

RefSeq ID: NM_000190
Location:chr11 118460796-118469468
strand:+

Upstream the gene:5 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
Rb	Growing	GSE19898	118460572	118460869	297	76
Rb	Quiescent	GSE19898	118460634	118460879	245	40
p130	Senescent	GSE19898	118460339	118461090	751	82
p130	shRbQuiescent	GSE19898	118460424	118461085	661	42
p130	shRbSenescent	GSE19898	118460506	118461032	526	28

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
E2F4	G0	GSE7516	118460690	118461008	318	0
Fos	K562	GSE19551	118460548	118461926	1378	0
Gata1	K562	GSE18868	118461233	118462002	769	0
Gata1	K562	GSE18868	118463374	118464025	651	0
Gata2	K562	GSE18868	118461160	118462243	1083	0
Gata2	K562	GSE18868	118463238	118464200	962	0
H3ac	HepG2	E	118460690	118462215	1525	0
LIN9	G0	GSE7516	118460690	118461049	359	0
PHF8	HeLa	GSE20725	118460467	118461353	886	0
PHF8	Hs68plusFBS	GSE20725	118460371	118461848	1477	0
p130	Quiescent	GSE19898	118460633	118461065	432	0

Validated miRNA targets

miR Walk:3 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-144	hsa-mir-144	17	19254693
hsa-miR-144*	hsa-mir-144	17	19254693
hsa-miR-451	hsa-mir-451	17	19254693

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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