AutismKB 2.0

Annotation Detail for CRYBA1


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Basic Information Top
Gene Symbol:CRYBA1 ( CRYB1 )
Gene Full Name: crystallin, beta A1
Band: 17q11.2
Quick LinksEntrez ID:1411; OMIM: 123610; Uniprot ID:CRBA1_HUMAN; ENSEMBL ID: ENSG00000108255; HGNC ID: 2394
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
82S-methylcysteine; alternate.
82S-glutathionyl cysteine; alternate.
117S-glutathionyl cysteine; alternate.
117S-methylcysteine; alternate.
122N6-acetyllysine.
125N6-acetyllysine.
127Phosphothreonine.
131N6-acetyllysine.
137Omega-N-methylated arginine.
160Phosphoserine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
82S-methylcysteine; alternate.Swiss-Prot 53.0
117S-methylcysteine; alternate.Swiss-Prot 53.0
122N6-acetyllysine.Swiss-Prot 53.0
125N6-acetyllysine.Swiss-Prot 53.0
127PhosphothreoninePhospho.ELM 6.0
127Phosphothreonine.Swiss-Prot 53.0
131N6-acetyllysine.Swiss-Prot 53.0
137Omega-N-methylated arginine.Swiss-Prot 53.0
160Phosphoserine.Swiss-Prot 53.0
160PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
22N-linkedHMM predict
24O-linkedHMM predict
24Phosphothreonine(MAPK)HMM predict
54N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005208
  • Location:chr17 24598000-24605625
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 24591788 24592704 916 5755
CTCF CD4GSE12889 24594992 24595089 97 2960
CTCF CD4SISSRdata 24594992 24595089 97 2960
CTCF G2GSE9613 24592490 24592921 431 5295
CTCF G2GSE9613 24594924 24595161 237 2958
Oct1 HelaGSE14283 24593412 24593444 32 4573
Oct1 HelaGSE14283 24594870 24594915 45 3108
P300 T30-glioblastomaGSE21026 24591455 24592918 1463 5814
TFAP2C MCF7GSE21234 24592209 24592545 336 5624
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24603442 24603734 292 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


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