AutismKB 2.0

Annotation Details for LEPREL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LEPREL1 ( FLJ10718,MLAT4,P3H2 )
Gene Full Name: leprecan-like 1
Band: 3q28
Quick LinksEntrez ID:55214; OMIM: 610341; Uniprot ID:P3H2_HUMAN; ENSEMBL ID: ENSG00000090530; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005604ISS-basement membrane-
GO:0005783IDA-endoplasmic reticulum15063763
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0005794IDA-Golgi apparatus15063763
GO ID Evidence Qualifier GO_term References
GO:0005506IEA-iron ion binding-
GO:0019797IDA-procollagen-proline 3-dioxygenase activity18487197
GO:0031418IEA-L-ascorbic acid binding-
GO ID Evidence Qualifier GO_term References
GO:0008285IDA-negative regulation of cell proliferation19436308
GO:0019511IDA-peptidyl-proline hydroxylation18487197
GO:0032963IDA-collagen metabolic process18487197
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2146663
  • 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