Annotation Detail for COL24A1

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Basic Information Top

Gene Symbol:	COL24A1 ( MGC142214 )
Gene Full Name:	collagen, type XXIV, alpha 1
Band:	1p22.3
Quick Links	Entrez ID:255631; OMIM: 610025; Uniprot ID:COOA1_HUMAN; ENSEMBL ID: ENSG00000171502; HGNC ID: 20821
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
155	N-linked (GlcNAc...) (Potential).
321	N-linked (GlcNAc...) (Potential).
376	N-linked (GlcNAc...) (Potential).

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

RefSeq ID: NM_152890
Location:chr1 85967505-86394708
strand:-

Upstream the gene:2 results
Downstream the gene:0 results
Inside the gene:16 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K27me3	colorectal	cancer	86394206	86396286	2080	538
hScc1	Bcell	GSE12603	86395166	86395541	375	645

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T30-glioblastoma	GSE21026	86088176	86089147	971	0
CTCF	G2	GSE9613	86150055	86150278	223	0
ER	MCF7	GSE19013	86061003	86061414	411	0
ER	MCF7	GSE19013	86068717	86069334	617	0
FOXA1	MCF7	GSE15244	86069230	86069634	404	0
Nanog	ES	GSE20650	86214320	86214849	529	0
Nanog	hES	GSE18292	86338802	86339035	233	0
P300	T0-glioblastoma	GSE21026	86068852	86069705	853	0
P300	T0-glioblastoma	GSE21026	86088230	86089180	950	0
P300	T30-glioblastoma	GSE21026	86088291	86089197	906	0
RARA	MCF7	GSE15244	86069230	86069634	404	0
TFAP2C	MCF7	GSE21234	86190796	86191000	204	0
TFAP2C	MCF7	GSE21234	86214208	86214828	620	0
hScc1	Bcell	GSE12603	86256525	86256755	230	0
hScc1	CdLS	GSE12603	86132752	86133290	538	0
hScc1	CdLS	GSE12603	86256315	86256975	660	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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