Annotation Detail for CECR5

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Basic Information Top

Gene Symbol:	CECR5 ( - )
Gene Full Name:	cat eye syndrome chromosome region, candidate 5
Band:	-
Quick Links	Entrez ID:27440; OMIM: NA; Uniprot ID:CECR5_HUMAN; ENSEMBL ID: ENSG00000069998; HGNC ID:
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:6 results

Location(AA)	Modification
69	N6-acetyllysine.

Location(AA)	Modification	Resource
43	Phosphoserine(ATM)	HMM predict
178	Phosphothreonine(PKA)	HMM predict
263	Phosphotyrosine(EGFR)	HMM predict
263	Phosphotyrosine(SRC)	HMM predict
263	Phosphotyrosine(Syk)	HMM predict
353	Phosphoserine(ATM)	HMM predict

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

RefSeq ID: NM_017829
Location:chr22 15998410-16026176
strand:-

Upstream the gene:7 results
Downstream the gene:0 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	16032233	16033204	971	6542
ETS1	Jurkat	GSE17954	16032028	16033237	1209	6456
PHF8	HeLa	GSE20725	16032119	16033134	1015	6450
PHF8	Hs68minusFBS	GSE20725	16032031	16033248	1217	6463
hScc1	Bcell	GSE12603	16032233	16033241	1008	6561
hScc1	CdLS	GSE12603	16032233	16032901	668	6391
hScc1	G2	GSE9613	16032233	16032901	668	6391

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	16025658	16025947	289	0
ETS1	Jurkat	GSE17954	16019245	16021104	1859	0
PHF8	HeLa	GSE20725	16019327	16021027	1700	0
p130	Quiescent	GSE19898	16020436	16020623	187	0
p130	shRbQuiescent	GSE19898	16020383	16020930	547	0
p130	shRbSenescent	GSE19898	16020160	16020907	747	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
17108	EST		chr22	16020197	16020889	79	mRNA	CECR5	chr22	15992964	16020731	Sense/Antisense (SA) 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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