AutismKB 2.0

Annotation Details for RP1L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RP1L1 ( DCDC4B )
Gene Full Name: retinitis pigmentosa 1-like 1
Band: 8p23.1
Quick LinksEntrez ID:94137; OMIM: 608581; Uniprot ID:A6NKC6_HUMAN; ENSEMBL ID: ENSG00000183638; HGNC ID: 15946
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001750ISS-photoreceptor outer segment-
GO:0005737IEA-cytoplasm-
GO:0005874IEA-microtubule-
GO:0005930IBA-axoneme-
GO:0005930ISS-axoneme-
GO:0032391ISS-photoreceptor connecting cilium-
GO:0070062IDA-extracellular exosome23376485
No data
GO ID Evidence Qualifier GO_term References
GO:0007601IEA-visual perception-
GO:0035082IBA-axoneme assembly-
GO:0035556IEA-intracellular signal transduction-
GO:0042461IBA-photoreceptor cell development-
GO:0042461ISS-photoreceptor cell development-
GO:0045494IMP-photoreceptor cell maintenance23281133
GO:0045494ISS-photoreceptor cell maintenance-
GO:0060041IBA-retina development in camera-type eye-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2384303
  • 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