AutismKB 2.0

Annotation Details for TOM1L1


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Basic Information Top
Gene Symbol:TOM1L1 ( OK/KNS-CL.3,SRCASM )
Gene Full Name: target of myb1 (chicken)-like 1
Band: 17q23.2
Quick LinksEntrez ID:10040; OMIM: 604701; Uniprot ID:TM1L1_HUMAN; ENSEMBL ID: ENSG00000141198; HGNC ID: 11983
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm16412388
GO:0005764TAS-lysosome10329004
GO:0005768IDA-endosome15611048
GO:0005795IEA-Golgi stack-
GO:0005829IDA-cytosol15611048
GO:0010008IEA-endosome membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding15611048
GO:0017124IEA-SH3 domain binding-
GO:0019901IPI-protein kinase binding16479011
GO:0030276IDA-clathrin binding16412388
GO:0030295IEA-protein kinase activator activity-
GO:0043130TAS-ubiquitin binding15611048
GO ID Evidence Qualifier GO_term References
GO:0006886IEA-intracellular protein transport-
GO:0007165IDA-signal transduction16479011
GO:0031954IDA-positive regulation of protein autophosphorylation16479011
GO:0032147IDA-activation of protein kinase activity16479011
GO:0043162NAS-ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway15611048
GO:0045839IDA-negative regulation of mitotic nuclear division16479011
GO:2000278IDANOTregulation of DNA biosynthetic process16479011
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1919193
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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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