Annotation Detail for COBRA1

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Basic Information Top

Gene Symbol:	COBRA1 ( DKFZp586B0519,KIAA1182,NELF-B,NELFB )
Gene Full Name:	cofactor of BRCA1
Band:	9q34
Quick Links	Entrez ID:25920; OMIM: 611180; Uniprot ID:NELFB_HUMAN; ENSEMBL ID: ENSG00000188986; HGNC ID:
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:2 results
Predicted PTM Sites by profile HMM from dbPTM:15 results

Location(AA)	Modification
519	N6-acetyllysine.
557	Phosphoserine.

Location(AA)	Modification	Resource
22	N-linked	HMM predict
56	Phosphothreonine(CDK)	HMM predict
90	Phosphotyrosine(Syk)	HMM predict
90	Phosphotyrosine(EGFR)	HMM predict
189	Phosphoserine(CDC2)	HMM predict
191	Phosphoserine(CDC2)	HMM predict
263	Phosphothreonine(PKA)	HMM predict
318	Phosphothreonine(PKC)	HMM predict
494	Phosphoserine	HMM predict
494	Phosphoserine(CDK)	HMM predict
494	Phosphoserine(CDC2)	HMM predict
557	Phosphoserine	HMM predict
564	Phosphothreonine(MAPK)	HMM predict
573	O-linked	HMM predict
579	Proline	HMM predict

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

RefSeq ID: NM_015456
Location:chr9 139269767-139287811
strand:+

Upstream the gene:5 results
Downstream the gene:1 results
Inside the gene:2 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	139269349	139269589	240	299
CTCF	CD4	SISSRdata	139269349	139269589	240	299
P300	T30-glioblastoma	GSE21026	139269011	139270013	1002	256
PHF8	HeLa	GSE20725	139268913	139270410	1497	106
Rb	Quiescent	GSE19898	139269394	139269681	287	230

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
p63	keratinocytes	GSE17611	139288017	139288985	968	690

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Rb	Quiescent	GSE19898	139269945	139270066	121	0
p130	Senescent	GSE19898	139270041	139270261	220	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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