AutismKB 2.0

Annotation Detail for CRYBB3


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Basic Information Top
Gene Symbol:CRYBB3 ( CATCN2,CRYB3,MGC125772,MGC125773,MGC125774 )
Gene Full Name: crystallin, beta B3
Band: 22q11.23
Quick LinksEntrez ID:1417; OMIM: 123630; Uniprot ID:CRBB3_HUMAN; ENSEMBL ID: ENSG00000100053; HGNC ID: 2400
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
29Phosphotyrosine.
128N6-methylated lysine; alternate.
128N6-acetyllysine; alternate.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
29Phosphotyrosine.Swiss-Prot 53.0
29PhosphotyrosinePhospho.ELM 6.0
128N6-acetyllysine; alternate.Swiss-Prot 53.0
128N6-methylated lysine; alternate.Swiss-Prot 53.0
Location(AA) Modification Resource
47Phosphoserine(IKK)HMM predict
47Phosphoserine(CK1)HMM predict
100Phosphoserine(IKK)HMM predict
103Phosphoserine(MAPK)HMM predict
155N-linkedHMM predict
207ArginineHMM predict
208PhenylalanineHMM predict
209PhenylalanineHMM predict
210PhenylalanineHMM predict
211PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004076
  • Location:chr22 23925824-23933323
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 23919087 23920132 1045 6215
NRSF mAbJurkat 23916540 23916846 306 9132
NRSF mAbJurkat 23918137 23919997 1860 6758
NRSF mAbJurkat 23920347 23922362 2015 4470
NRSF mAbJurkat 23922719 23923543 824 2694
NRSF-mono JurkatQuESTdata 23919092 23920041 949 6258
NRSF-poly JurkatQuESTdata 23919255 23920112 857 6141
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23928379 23928573 194 0
CTCF CD4SISSRdata 23928379 23928573 194 0
CTCF HelaGSE12889 23928250 23928588 338 0
CTCF JurkatGSE12889 23928352 23928621 269 0
CTCF G2GSE9613 23928129 23928775 646 0
hScc1 BcellGSE12603 23927290 23927747 457 0
hScc1 BcellGSE12603 23928129 23928775 646 0
hScc1 BcellGSE12603 23932800 23933488 688 0
hScc1 CdLSGSE12603 23928129 23928775 646 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