Annotation Detail for CBLN2

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Basic Information Top

Gene Symbol:	CBLN2 ( - )
Gene Full Name:	cerebellin 2 precursor
Band:	18q22.3
Quick Links	Entrez ID:147381; OMIM: 600433; Uniprot ID:CBLN2_HUMAN; ENSEMBL ID: ENSG00000141668; HGNC ID: 1544
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:5 results

No data

Location(AA)	Modification	Resource
46	S-palmitoyl	HMM predict
47	S-palmitoyl	HMM predict
53	N-linked	HMM predict
109	Phosphoserine(IKK)	HMM predict
110	N-linked	HMM predict

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

RefSeq ID: NM_182511
Location:chr18 68354894-68362541
strand:-

Upstream the gene:1 results
Downstream the gene:0 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
hScc1	Bcell	GSE12603	68362567	68363034	467	259

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	68359954	68360488	534	0
CTCF	G2	GSE9613	68361840	68362092	252	0
hScc1	Bcell	GSE12603	68360002	68360447	445	0
hScc1	Bcell	GSE12603	68361240	68362152	912	0

Validated miRNA targets

miR Walk:2 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-125b	hsa-mir-125b-1	11	18056640
hsa-miR-125b	hsa-mir-125b-2	21	18056640

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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