AutismKB 2.0

Annotation Detail for CBLN3


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Basic Information Top
Gene Symbol:CBLN3 ( PRO1486 )
Gene Full Name: cerebellin 3 precursor
Band: 14q12
Quick LinksEntrez ID:643866; OMIM: 612978; Uniprot ID:CBLN3_HUMAN; ENSEMBL ID: ENSG00000139899; HGNC ID: 20146
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
90N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(MAPK)HMM predict
90N-linkedHMM predict
115Phosphoserine(PKC)HMM predict
115Phosphoserine(IKK)HMM predict
167O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001039771
  • Location:chr14 23965588-23968570
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 shRbQuiescentGSE19898 23968488 23968965 477 156
p130 shRbSenescentGSE19898 23968555 23968906 351 160
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68minusFBSGSE20725 23964400 23965132 732 823
PHF8 Hs68plusFBSGSE20725 23964471 23965365 894 671
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23967002 23967247 245 0
CTCF G2GSE9613 23968125 23968378 253 0
Oct1 HelaGSE14283 23965815 23965843 28 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

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