AutismKB 2.0

Annotation Detail for CCBL2


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Basic Information Top
Gene Symbol:CCBL2 ( DKFZp547N1117,DKFZp667D0223,KAT3,KATIII,MGC9398,RP4-531M19.2 )
Gene Full Name: cysteine conjugate-beta lyase 2
Band: 1p22.2
Quick LinksEntrez ID:56267; OMIM: 610656; Uniprot ID:KAT3_HUMAN; ENSEMBL ID: ENSG00000137944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
108N6-acetyllysine.
116N6-acetyllysine.
280N6-(pyridoxal phosphate)lysine (By
Location(AA) Modifications Resource
Location(AA) Modification Resource
80Phosphotyrosine(INSR)HMM predict
80Phosphotyrosine(SRC)HMM predict
86Phosphoserine(CK1)HMM predict
249Phosphotyrosine(SRC)HMM predict
309O-linkedHMM predict
311Phosphotyrosine(EGFR)HMM predict
402Phosphothreonine(PKC)HMM predict
422Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008662
  • Location:chr1 89174043-89231103
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 89166569 89167165 596 7177
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 89174269 89174599 330 0
CTCF CD4GSE12889 89211913 89212136 223 0
CTCF CD4SISSRdata 89174269 89174599 330 0
CTCF CD4SISSRdata 89211913 89212136 223 0
CTCF G2GSE9613 89174010 89174385 375 0
CTCF G2GSE9613 89211967 89212343 376 0
ER E2-MCF7GSE14664 89200015 89200047 32 0
Fos K562GSE19551 89212877 89213164 287 0
LIN9 SGSE7516 89211639 89211819 180 0
Oct1 H2O2-HelaGSE14283 89197005 89197041 36 0
Oct1 HelaGSE14283 89175837 89175867 30 0
Oct1 HelaGSE14283 89200008 89200056 48 0
Oct1 HelaGSE14283 89210556 89210597 41 0
Sox2 hESGSE18292 89174084 89174473 389 0
hScc1 CdLSGSE12603 89211639 89212225 586 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