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OPN1SW (opsin 1, short wave sensitive)

Identity

Alias (NCBI)BCP
BOP
CBT
HGNC (Hugo) OPN1SW
HGNC Alias symbBOP
CBT
HGNC Alias namecolor blindness, tritan
 blue-sensitive opsin
HGNC Previous nameBCP
HGNC Previous nameblue cone photoreceptor pigment
LocusID (NCBI) 611
Atlas_Id 71133
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128772489 and ends at 128775790 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)OPN1SW   1012
Cards
Entrez_Gene (NCBI)OPN1SW    opsin 1, short wave sensitive
AliasesBCP; BOP; CBT
GeneCards (Weizmann)OPN1SW
Ensembl hg19 (Hinxton)ENSG00000128617 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128617 [Gene_View]  ENSG00000128617 [Sequence]  chr7:128772489-128775790 [Contig_View]  OPN1SW [Vega]
ICGC DataPortalENSG00000128617
TCGA cBioPortalOPN1SW
AceView (NCBI)OPN1SW
Genatlas (Paris)OPN1SW
SOURCE (Princeton)OPN1SW
Genetics Home Reference (NIH)OPN1SW
Genomic and cartography
GoldenPath hg38 (UCSC)OPN1SW  -     chr7:128772489-128775790 -  7q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OPN1SW  -     7q32.1   [Description]    (hg19-Feb_2009)
GoldenPathOPN1SW - 7q32.1 [CytoView hg19]  OPN1SW - 7q32.1 [CytoView hg38]
ImmunoBaseENSG00000128617
Genome Data Viewer NCBIOPN1SW [Mapview hg19]  
OMIM190900   613522   
Gene and transcription
Genbank (Entrez)BM666330 DQ822478 M26172
RefSeq transcript (Entrez)NM_001385125 NM_001708
Consensus coding sequences : CCDS (NCBI)OPN1SW
Gene ExpressionOPN1SW [ NCBI-GEO ]   OPN1SW [ EBI - ARRAY_EXPRESS ]   OPN1SW [ SEEK ]   OPN1SW [ MEM ]
Gene Expression Viewer (FireBrowse)OPN1SW [ Firebrowse - Broad ]
GenevisibleExpression of OPN1SW in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)611
GTEX Portal (Tissue expression)OPN1SW
Human Protein AtlasENSG00000128617-OPN1SW [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP03999   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP03999  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP03999
PhosPhoSitePlusP03999
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)    OPSIN (PS00238)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Opsin    Opsin_blue    Retinal_BS   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Conserved Domain (NCBI)OPN1SW
PDB (RSDB)1KPN   
PDB Europe1KPN   
PDB (PDBSum)1KPN   
PDB (IMB)1KPN   
Structural Biology KnowledgeBase1KPN   
SCOP (Structural Classification of Proteins)1KPN   
CATH (Classification of proteins structures)1KPN   
SuperfamilyP03999
AlphaFold pdb e-kbP03999   
Human Protein Atlas [tissue]ENSG00000128617-OPN1SW [tissue]
HPRD01836
Protein Interaction databases
DIP (DOE-UCLA)P03999
IntAct (EBI)P03999
BioGRIDOPN1SW
STRING (EMBL)OPN1SW
ZODIACOPN1SW
Ontologies - Pathways
QuickGOP03999
Ontology : AmiGOretinoid metabolic process  photoreceptor outer segment  photoreceptor inner segment  protein binding  plasma membrane  integral component of plasma membrane  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  visual perception  phototransduction  G protein-coupled photoreceptor activity  detection of visible light  protein-chromophore linkage  signaling receptor activity  perinuclear region of cytoplasm  cellular response to light stimulus  cellular response to UV-A  photoreceptor disc membrane  
Ontology : EGO-EBIretinoid metabolic process  photoreceptor outer segment  photoreceptor inner segment  protein binding  plasma membrane  integral component of plasma membrane  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  visual perception  phototransduction  G protein-coupled photoreceptor activity  detection of visible light  protein-chromophore linkage  signaling receptor activity  perinuclear region of cytoplasm  cellular response to light stimulus  cellular response to UV-A  photoreceptor disc membrane  
NDEx NetworkOPN1SW
Atlas of Cancer Signalling NetworkOPN1SW
Wikipedia pathwaysOPN1SW
Orthology - Evolution
OrthoDB611
GeneTree (enSembl)ENSG00000128617
Phylogenetic Trees/Animal Genes : TreeFamOPN1SW
Homologs : HomoloGeneOPN1SW
Homology/Alignments : Family Browser (UCSC)OPN1SW
Gene fusions - Rearrangements
Fusion : QuiverOPN1SW
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPN1SW [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPN1SW
dbVarOPN1SW
ClinVarOPN1SW
MonarchOPN1SW
1000_GenomesOPN1SW 
Exome Variant ServerOPN1SW
GNOMAD BrowserENSG00000128617
Varsome BrowserOPN1SW
ACMGOPN1SW variants
VarityP03999
Genomic Variants (DGV)OPN1SW [DGVbeta]
DECIPHEROPN1SW [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOPN1SW 
Mutations
ICGC Data PortalOPN1SW 
TCGA Data PortalOPN1SW 
Broad Tumor PortalOPN1SW
OASIS PortalOPN1SW [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPN1SW  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DOPN1SW
Mutations and Diseases : HGMDOPN1SW
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaOPN1SW
DgiDB (Drug Gene Interaction Database)OPN1SW
DoCM (Curated mutations)OPN1SW
CIViC (Clinical Interpretations of Variants in Cancer)OPN1SW
Cancer3DOPN1SW
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM190900    613522   
Orphanet11810   
DisGeNETOPN1SW
MedgenOPN1SW
Genetic Testing Registry OPN1SW
NextProtP03999 [Medical]
GENETestsOPN1SW
Target ValidationOPN1SW
Huge Navigator OPN1SW [HugePedia]
ClinGenOPN1SW
Clinical trials, drugs, therapy
MyCancerGenomeOPN1SW
Protein Interactions : CTDOPN1SW
Pharm GKB GenePA31938
PharosP03999
Clinical trialOPN1SW
Miscellaneous
canSAR (ICR)OPN1SW
HarmonizomeOPN1SW
DataMed IndexOPN1SW
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXOPN1SW
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:13:37 CEST 2021

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