Annotation Detail for CKMT1A

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Basic Information Top

Gene Symbol:	CKMT1A ( CKMT1,CKMT1B,FLJ50967,UMTCK )
Gene Full Name:	creatine kinase, mitochondrial 1A
Band:	15q15.3
Quick Links	Entrez ID:548596; OMIM: 613415; Uniprot ID:KCRU_HUMAN; ENSEMBL ID: ENSG00000223572; HGNC ID: 31736
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
153	Phosphotyrosine.

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

RefSeq ID: NM_001015001
Location:chr15 41772375-41778710
strand:+

Upstream the gene:10 results
Downstream the gene:7 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	41769120	41770063	943	2784
H3K4me2	HCT116	GSE10453	41767643	41769147	1504	3981
H3K4me2	HCT116	GSE10453	41771560	41772873	1313	159
H3K4me3	colorectal	cancer	41767994	41769023	1029	3867
H3ac	HepG2	E	41768235	41769120	885	3698
NRSF	mAb	Jurkat	41769023	41770063	1040	2833
P300	T30-glioblastoma	GSE21026	41769200	41770059	859	2746
USF1	HepG2	E	41768235	41769224	989	3646
hScc1	Bcell	GSE12603	41768893	41769991	1098	2934
hScc1	CdLS	GSE12603	41768987	41769949	962	2908

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	41791425	41792257	832	13131
CTCF	G2	GSE9613	41794561	41795578	1017	16359
CTCF	G2	GSE9613	41796644	41796967	323	18095
NRSF	mAb	Jurkat	41779403	41780817	1414	1400
NRSF	mAb	Jurkat	41788189	41788504	315	9636
Oct1	Hela	GSE14283	41785551	41785587	36	6859
hScc1	Bcell	GSE12603	41796465	41796867	402	17956

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
NRSF	mAb	Jurkat	41770851	41777727	6876	0
NRSF	mAb	Jurkat	41778046	41779169	1123	0
TFAP2C	MCF7	GSE21234	41773458	41773872	414	0
hScc1	Bcell	GSE12603	41773231	41773721	490	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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