OPN1SW
Basic information
Region (hg38): 7:128772485-128775794
Previous symbols: [ "BCP" ]
Links
Phenotypes
GenCC
Source:
- blue color blindness (Supportive), mode of inheritance: AD
- blue color blindness (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Tritanopia | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Ophthalmologic | 14946611; 1531728 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OPN1SW gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 59 | 67 | ||||
missense | 134 | 144 | ||||
nonsense | 6 | |||||
start loss | 1 | |||||
frameshift | 7 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region | 5 | 6 | 11 | |||
non coding | 16 | 23 | ||||
Total | 0 | 0 | 160 | 83 | 10 |
Variants in OPN1SW
This is a list of pathogenic ClinVar variants found in the OPN1SW region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-128772544-T-C | Uncertain significance (Mar 10, 2022) | |||
7-128772550-C-T | Uncertain significance (Mar 20, 2022) | |||
7-128772564-C-A | OPN1SW-related disorder | Benign (Jan 29, 2024) | ||
7-128772564-C-T | Likely benign (Sep 01, 2023) | |||
7-128772566-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
7-128772567-G-A | Likely benign (Jan 25, 2024) | |||
7-128772570-A-C | Likely benign (Mar 25, 2020) | |||
7-128772571-G-A | Uncertain significance (Feb 24, 2022) | |||
7-128772574-G-A | Uncertain significance (Aug 31, 2022) | |||
7-128772582-T-G | Likely benign (Jul 19, 2022) | |||
7-128772592-G-T | Uncertain significance (Feb 01, 2022) | |||
7-128772600-T-C | Likely benign (May 02, 2022) | |||
7-128772602-T-C | not specified | Uncertain significance (Oct 15, 2023) | ||
7-128772605-C-G | Uncertain significance (May 27, 2022) | |||
7-128772605-C-T | Uncertain significance (Aug 03, 2023) | |||
7-128772606-G-A | Likely benign (Nov 19, 2023) | |||
7-128772612-A-G | Likely benign (Jul 21, 2023) | |||
7-128772613-T-G | Uncertain significance (Oct 11, 2023) | |||
7-128772618-C-T | Uncertain significance (Jun 22, 2022) | |||
7-128772632-A-C | Uncertain significance (May 19, 2021) | |||
7-128772643-A-C | Uncertain significance (Apr 29, 2022) | |||
7-128772646-A-G | Uncertain significance (Dec 24, 2019) | |||
7-128772646-A-T | Uncertain significance (Mar 15, 2022) | |||
7-128772653-C-G | not specified | Uncertain significance (Mar 14, 2023) | ||
7-128772654-T-C | Uncertain significance (Oct 07, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OPN1SW | protein_coding | protein_coding | ENST00000249389 | 5 | 3300 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0211 | 0.964 | 125689 | 1 | 58 | 125748 | 0.000235 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.00803 | 206 | 206 | 0.998 | 0.0000129 | 2273 |
Missense in Polyphen | 63 | 70.819 | 0.88959 | 862 | ||
Synonymous | -2.21 | 109 | 83.3 | 1.31 | 0.00000558 | 693 |
Loss of Function | 2.12 | 5 | 13.4 | 0.374 | 5.78e-7 | 158 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000925 | 0.000925 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000470 | 0.0000462 |
European (Non-Finnish) | 0.000159 | 0.000158 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000229 | 0.000196 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.;
- Disease
- DISEASE: Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. {ECO:0000269|PubMed:1386496, ECO:0000269|PubMed:1531728}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Opsins;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;The retinoid cycle in cones (daylight vision);G alpha (i) signalling events;Visual phototransduction;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.328
Intolerance Scores
- loftool
- 0.767
- rvis_EVS
- -0.73
- rvis_percentile_EVS
- 14.02
Haploinsufficiency Scores
- pHI
- 0.100
- hipred
- N
- hipred_score
- 0.400
- ghis
- 0.556
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.557
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Opn1sw
- Phenotype
- vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- opn1sw1
- Affected structure
- horizontal cell
- Phenotype tag
- abnormal
- Phenotype quality
- amount
Gene ontology
- Biological process
- retinoid metabolic process;signal transduction;G protein-coupled receptor signaling pathway;visual perception;phototransduction;detection of visible light;protein-chromophore linkage;cellular response to light stimulus
- Cellular component
- photoreceptor outer segment;integral component of plasma membrane;photoreceptor disc membrane
- Molecular function
- G protein-coupled photoreceptor activity;signaling receptor activity