AutismKB 2.0

Annotation Details for TCOF1


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Basic Information Top
Gene Symbol:TCOF1 ( MFD1,treacle )
Gene Full Name: Treacher Collins-Franceschetti syndrome 1
Band: 5q32-q33.1
Quick LinksEntrez ID:6949; OMIM: 606847; Uniprot ID:TCOF_HUMAN; ENSEMBL ID: ENSG00000070814; HGNC ID: 11654
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005634IDA-nucleus-
GO:0005730IDA-nucleolus15249688
GO:0005829IDA-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0001042IDA-RNA polymerase I core binding26399832
GO:0003723IDA-RNA binding22658674
GO:0005215TAS-transporter activity9096354
GO:0005515IPI-protein binding17620599
GO:0046982IPI-protein heterodimerization activity26399832
GO ID Evidence Qualifier GO_term References
GO:0001501TAS-skeletal system development9096354
GO:0006417IMP-regulation of translation26399832
GO:0006810IEA-transport-
GO:0014029IMP-neural crest formation26399832
GO:0014032IMP-neural crest cell development26399832
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TCOF1ARRB110690117353931 Affinity Capture-MS
TCOF1ARRB111280917353931 Affinity Capture-MS
TCOF1ARRB210690217353931 Affinity Capture-MS
TCOF1ARRB211280917353931 Affinity Capture-MS
GPN1TCOF111645217643375 Affinity Capture-MS
GPN1TCOF111280917643375 Affinity Capture-MS
WDR48TCOF112164919615732 Affinity Capture-MS
WDR48TCOF111280919615732 Affinity Capture-MS
USP44TCOF112389019615732 Affinity Capture-MS
USP44TCOF111280919615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:892003
  • 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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