AutismKB 2.0

Annotation Detail for CBLN4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CBLN4 ( CBLNL1 )
Gene Full Name: cerebellin 4 precursor
Band: 20q13.2
Quick LinksEntrez ID:140689; OMIM: NA; Uniprot ID:CBLN4_HUMAN; ENSEMBL ID: ENSG00000054803; HGNC ID: 16231
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
88N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
88N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphoserine(PKG)HMM predict
29N-linkedHMM predict
52O-linkedHMM predict
52Phosphoserine(IKK)HMM predict
58Phosphoserine(CDC2)HMM predict
84O-linkedHMM predict
88N-linkedHMM predict
176Phosphotyrosine(Jak)HMM predict
176Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080617
  • Location:chr20 54005903-54013418
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatSISSRdata 54012461 54012697 236 0
NRSF-mono JurkatQuESTdata 54012468 54012769 301 0
NRSF-poly JurkatQuESTdata 54012396 54012779 383 0
hScc1 BcellGSE12603 54012405 54013208 803 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