AutismKB 2.0

Annotation Details for C16orf53


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Basic Information Top
Gene Symbol:C16orf53 ( FLJ22459,GAS,MGC4606,PA1 )
Gene Full Name: chromosome 16 open reading frame 53
Band: 16p11.2
Quick LinksEntrez ID:79447; OMIM: 612033; Uniprot ID:PA1_HUMAN; ENSEMBL ID: ENSG00000185928; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus17500065
GO:0035097IDA-histone methyltransferase complex17500065
GO:0044666IDA-MLL3/4 complex17500065
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17178841
GO:0030331IDA-estrogen receptor binding19039327
GO ID Evidence Qualifier GO_term References
GO:0006281IEA-DNA repair-
GO:0006310IEA-DNA recombination-
GO:0006351IEA-transcription, DNA-templated-
GO:0033148IDA-positive regulation of intracellular estrogen receptor signaling pathway19039327
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter19039327
GO:1902808IMP-positive regulation of cell cycle G1/S phase transition19039327
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
C16orf53RBBP512267217500065 Affinity Capture-Western
C16orf53RBBP511186417500065 Affinity Capture-Western
C16orf53ASH2L11452817500065 Affinity Capture-Western
C16orf53ASH2L12267217500065 Affinity Capture-Western
C16orf53MLL412267217500065 Affinity Capture-Western
C16orf53MLL411510417500065 Affinity Capture-Western
C16orf53WDR512267217500065 Affinity Capture-Western
C16orf53WDR511627217500065 Affinity Capture-Western
C16orf53PAXIP111662517500065 19124460 Affinity Capture-MS; Affinity Capture-Western; Co-purification
C16orf53PAXIP112267217500065 19124460 Affinity Capture-MS; Affinity Capture-Western; Co-purification
C16orf53NCOA612267217500065 Affinity Capture-Western
C16orf53NCOA611669117500065 Affinity Capture-Western
C16orf53MLL312183517500065 Affinity Capture-Western
C16orf53MLL312267217500065 Affinity Capture-Western
C16orf53SLX1B12267219596235 Affinity Capture-MS
C16orf53SLX1B12247919596235 Affinity Capture-MS
C20orf94C16orf5312267219596235 Affinity Capture-MS
C20orf94C16orf5312614719596235 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1914528
  • Data Attributes: 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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