AutismKB 2.0

Annotation Detail for CRYBB2


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Basic Information Top
Gene Symbol:CRYBB2 ( CCA2,CRYB2,CRYB2A,D22S665 )
Gene Full Name: crystallin, beta B2
Band: 22q11.23
Quick LinksEntrez ID:1415; OMIM: 123620; Uniprot ID:CRBB2_HUMAN; ENSEMBL ID: ENSG00000100058; HGNC ID: 2398
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
42N6-methylated lysine.
68N6-methylated lysine.
76N6-acetyllysine.
118Phosphothreonine.
121N6-acetyllysine; alternate.
121N6-methylated lysine; alternate.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
42N6-methylated lysine.Swiss-Prot 53.0
68N6-methylated lysine.Swiss-Prot 53.0
76N6-acetyllysine.Swiss-Prot 53.0
117PhosphothreoninePhospho.ELM 6.0
118Phosphothreonine.Swiss-Prot 53.0
121N6-acetyllysine; alternate.Swiss-Prot 53.0
121N6-methylated lysine; alternate.Swiss-Prot 53.0
Location(AA) Modification Resource
84Phosphoserine(IKK)HMM predict
93Phosphoserine(PKA)HMM predict
93Phosphoserine(CAMK2)HMM predict
93Phosphoserine(IKK)HMM predict
116N-linkedHMM predict
171Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000496
  • Location:chr22 23945611-23957836
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23961923 23962062 139 4156
CTCF CD4SISSRdata 23961923 23962062 139 4156
CTCF G2GSE9613 23961892 23962285 393 4252
CTCF G2GSE9613 23963547 23963802 255 5838
Fos K562GSE19551 23961868 23962233 365 4214
hScc1 BcellGSE12603 23961892 23962519 627 4369
hScc1 BcellGSE12603 23963547 23963830 283 5852
hScc1 CdLSGSE12603 23961892 23962163 271 4191
hScc1 CdLSGSE12603 23963629 23964117 488 6037
hScc1 G2GSE9613 23961892 23962285 393 4252
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 23949277 23949897 620 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