Annotation Detail for HMGCLL1

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Basic Information Top

Gene Symbol:	HMGCLL1 ( DKFZp434G1411,bA418P12.1 )
Gene Full Name:	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
Band:	6p12.1
Quick Links	Entrez ID:54511; OMIM: NA; Uniprot ID:HMGC2_HUMAN; ENSEMBL ID: ENSG00000146151; HGNC ID: 21359
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
93	N6-acetyllysine (By similarity).

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

RefSeq ID: NM_001042406
Location:chr6 55407131-55551970
strand:-

Upstream the gene:0 results
Downstream the gene:2 results
Inside the gene:15 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	55396983	55397018	35	10131
Oct1	Hela	GSE14283	55396983	55397018	35	10131

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	55501523	55501757	234	0
ER	Fulvestrant-MCF7	GSE14664	55460065	55460137	72	0
ER	Fulvestrant-MCF7	GSE14664	55530913	55530990	77	0
ER	MCF7	E	55433118	55433477	359	0
Oct1	H2O2-Hela	GSE14283	55504239	55504269	30	0
Oct1	H2O2-Hela	GSE14283	55530912	55530985	73	0
Oct1	H2O2-Hela	GSE14283	55548229	55548273	44	0
Oct1	Hela	GSE14283	55454354	55454384	30	0
Oct1	Hela	GSE14283	55504229	55504269	40	0
Oct1	Hela	GSE14283	55507424	55507465	41	0
Oct1	Hela	GSE14283	55530909	55530990	81	0
Oct1	Hela	GSE14283	55531082	55531110	28	0
Oct1	Hela	GSE14283	55542474	55542513	39	0
Oct1	Hela	GSE14283	55548230	55548273	43	0
TFAP2C	MCF7	GSE21234	55551489	55552274	785	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
22742	EST		chr6	55428143	55455532	27389	mRNA	HMGCLL1	chr6	55407131	55551944	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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