AutismKB 2.0

Annotation Details for AEBP1


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Basic Information Top
Gene Symbol:AEBP1 ( ACLP,FLJ33612 )
Gene Full Name: AE binding protein 1
Band: 7p13
Quick LinksEntrez ID:165; OMIM: 602981; Uniprot ID:AEBP1_HUMAN; ENSEMBL ID: ENSG00000106624; HGNC ID: 303
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space20551380
GO:0005634IEA-nucleus-
GO:0005737IEA-cytoplasm-
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0070062IDA-extracellular exosome19199708
GO ID Evidence Qualifier GO_term References
GO:0000977IDA-RNA polymerase II regulatory region sequence-specific DNA binding15654748
GO:0001227IDA-transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding15654748
GO:0001227IMP-transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding15654748
GO:0003700TAS-transcription factor activity, sequence-specific DNA binding8920928
GO:0003714IEA-transcription corepressor activity-
GO:0004180TAS-carboxypeptidase activity8920928
GO:0004181IBA-metallocarboxypeptidase activity-
GO:0005516IEA-calmodulin binding-
GO:0008270IEA-zinc ion binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter15654748
GO:0001501TAS-skeletal system development8920928
GO:0006351IEA-transcription, DNA-templated-
GO:0006518IBA-peptide metabolic process-
GO:0007517TAS-muscle organ development9624159
GO:0016485IBA-protein processing-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1197012
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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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