Annotation Detail for CNIH2

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Basic Information Top

Gene Symbol:	CNIH2 ( CNIH-2,Cnil,MGC50896 )
Gene Full Name:	cornichon homolog 2 (Drosophila)
Band:	11q13.2
Quick Links	Entrez ID:254263; OMIM: 611288; Uniprot ID:CNIH2_HUMAN; ENSEMBL ID: ENSG00000174871; HGNC ID: 28744
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:1 results

No data

Location(AA)	Modification	Resource
156	Threonine	HMM predict

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

RefSeq ID: NM_182553
Location:chr11 65802271-65808258
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:9 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	65806518	65806914	396	0
CTCF	CD4	SISSRdata	65806518	65806914	396	0
CTCF	Jurkat	GSE12889	65806453	65806813	360	0
NRSF	pAb	Jurkat	65803660	65803996	336	0
VDR	GM10855-Unstim	GSE22484	65806063	65807457	1394	0
VDR	GM10855-stim	GSE22484	65806107	65807282	1175	0
hScc1	Bcell	GSE12603	65806512	65806977	465	0
hScc1	CdLS	GSE12603	65806427	65806977	550	0
hScc1	G2	GSE9613	65806512	65807050	538	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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