AutismKB 2.0

Annotation Detail for OPN1LW


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Basic Information Top
Gene Symbol:OPN1LW ( CBBM,CBP,COD5,RCP,ROP )
Gene Full Name: opsin 1 (cone pigments), long-wave-sensitive
Band: Xq28
Quick LinksEntrez ID:5956; OMIM: 300822; Uniprot ID:OPSR_HUMAN; ENSEMBL ID: ENSG00000102076; HGNC ID: 9936
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
Signaling by GPCR
No data
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Related Diseases/Disorders Top
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Desease Name
Blue-cone monochromacy
Colorblindness, protan
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:C536238 Blue cone monochromatism marker/mechanism
OMIM:303900 COLORBLINDNESS, PARTIAL, PROTAN SERIES marker/mechanism
Pathway ID Pathway Name
REACT:14797 Signaling by GPCR
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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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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