AutismKB 2.0

Annotation Details for CLPTM1


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Basic Information Top
Gene Symbol:CLPTM1 ( - )
Gene Full Name: cleft lip and palate associated transmembrane protein 1
Band: 19q13.32
Quick LinksEntrez ID:1209; OMIM: 604783; Uniprot ID:CLPT1_HUMAN; ENSEMBL ID: ENSG00000104853; HGNC ID: 2087
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887TAS-integral component of plasma membrane9828125
GO:0009897ISS-external side of plasma membrane-
GO:0016020IDA-membrane19946888
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding21903422
GO ID Evidence Qualifier GO_term References
GO:0007275IEA-multicellular organism development-
GO:0030154IEA-cell differentiation-
GO:0033081ISS-regulation of T cell differentiation in thymus-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
CLPTM1rs1882752, rs204465, rs204467, rs204469, rs204470, rs204471, rs204472, rs204476, rs204477, rs204478, rs204479, rs204481, rs204905, rs204907, rs204911, rs2075618, rs2075620, rs2239375, rs2293755, rs3760625, rs3760627, rs3760629, rs3786505, rs3859419, rs4803779, rs4803780, rs4803781, rs4803783, rs7251501, rs7251503, rs7257916, rs760114, rs8100236, rs8111069, rs875255, rs892101, rs909134, rs9193 Gene overview in AlzGene
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Animal Model Top
  • MGI ID: MGI:1927155
  • Data Attributes: MGI curated and HomoloGene calculated
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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