AutismKB 2.0

Annotation Details for ASXL1


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Basic Information Top
Gene Symbol:ASXL1 ( KIAA0978,MGC117280,MGC71111 )
Gene Full Name: additional sex combs like 1 (Drosophila)
Band: 20q11.21
Quick LinksEntrez ID:171023; OMIM: 612990; Uniprot ID:ASXL1_HUMAN; ENSEMBL ID: ENSG00000171456; HGNC ID: 18318
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000790ISS-nuclear chromatin-
GO:0005654TAS-nucleoplasm-
GO:0035517IDA-PR-DUB complex20436459
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0003677IEA-DNA binding-
GO:0003713ISS-transcription coactivator activity-
GO:0003714ISS-transcription corepressor activity-
GO:0005515IPI-protein binding16606617
GO:0042974ISS-retinoic acid receptor binding-
GO:0042975ISS-peroxisome proliferator activated receptor binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0000122ISS-negative regulation of transcription from RNA polymerase II promoter-
GO:0000902IEA-cell morphogenesis-
GO:0003007IEA-heart morphogenesis-
GO:0006351IEA-transcription, DNA-templated-
GO:0016579TAS-protein deubiquitination-
GO:0030097IEA-hemopoiesis-
GO:0032526ISS-response to retinoic acid-
GO:0035359ISS-negative regulation of peroxisome proliferator activated receptor signaling pathway-
GO:0035522IDA-monoubiquitinated histone H2A deubiquitination20436459
GO:0045599ISS-negative regulation of fat cell differentiation-
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter-
GO:0048386ISS-positive regulation of retinoic acid receptor signaling pathway-
GO:0048387ISS-negative regulation of retinoic acid receptor signaling pathway-
GO:0048538IEA-thymus development-
GO:0048539IEA-bone marrow development-
GO:0048872IEA-homeostasis of number of cells-
GO:0060430IEA-lung saccule development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ASXL1HIST1H1C12810418258596 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
ASXL1HIST1H1C10926118258596 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
ASXL1BAP112810419615732 19815555 Affinity Capture-MS
ASXL1BAP111391119615732 19815555 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2684063
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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