AutismKB 2.0

Annotation Detail for GUCA1B


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Basic Information Top
Gene Symbol:GUCA1B ( DKFZp686E1183,GCAP2,GUCA2,RP48 )
Gene Full Name: guanylate cyclase activator 1B (retina)
Band: 6p21.1
Quick LinksEntrez ID:2979; OMIM: 602275; Uniprot ID:GUC1B_HUMAN; ENSEMBL ID: ENSG00000112599; HGNC ID: 4679
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002098
  • Location:chr6 42259000-42270671
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 42275565 42276313 748 5268
CTCF CD4GSE12889 42273888 42274061 173 3303
CTCF CD4SISSRdata 42273888 42274061 173 3303
GABP k562GSE8489 42273393 42274149 756 3100
GABP k562GSE8489 42275582 42276192 610 5216
Gata2 K562GSE18868 42273142 42274299 1157 3049
Gata2 K562GSE18868 42274882 42276026 1144 4783
P300 T0-glioblastomaGSE21026 42275388 42276195 807 5120
P300 T30-glioblastomaGSE21026 42275630 42276439 809 5363
TAF k562GSE8489 42275582 42276340 758 5290
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12782 42265962 42267518 1556 0
STAT1 HeLaGSE12783 42266079 42267457 1378 0
STAT1 IFNSISSRdata 42266178 42267175 997 0
p63 keratinocytesGSE17611 42268936 42269945 1009 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