RRH
retinal pigment epithelium-derived rhodopsin homolog, the group of Opsin receptors
Basic information
Region (hg38): 4:109827971-109849123
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (23 variants)
- Inborn genetic diseases (6 variants)
- Congenital stationary night blindness 1F (3 variants)
- Stargardt disease (1 variants)
- Congenital Stationary Night Blindness, Recessive (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRH gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 5 | 1 | 6 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 2 | 0 |
Variants in RRH
This is a list of pathogenic ClinVar variants found in the RRH region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-109828059-A-G | Inborn genetic diseases | Uncertain significance (Jul 06, 2021) | ||
| 4-109833285-T-G | Inborn genetic diseases | Uncertain significance (May 18, 2023) | ||
| 4-109835462-G-A | Inborn genetic diseases | Likely benign (Apr 28, 2022) | ||
| 4-109835463-T-G | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | ||
| 4-109836032-C-A | Likely benign (Dec 31, 2019) | |||
| 4-109836049-G-C | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) | ||
| 4-109836061-A-G | Inborn genetic diseases | Uncertain significance (Jan 18, 2023) | ||
| 4-109836148-G-A | Inborn genetic diseases | Uncertain significance (Sep 13, 2023) | ||
| 4-109837469-C-T | Inborn genetic diseases | Likely benign (Mar 22, 2023) | ||
| 4-109842479-T-G | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | ||
| 4-109842605-C-G | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | ||
| 4-109844132-A-G | Inborn genetic diseases | Uncertain significance (Jul 28, 2021) | ||
| 4-109848188-C-G | Congenital Stationary Night Blindness, Recessive | Likely benign (Jun 14, 2016) | ||
| 4-109848202-A-G | Uncertain significance (Sep 09, 2022) | |||
| 4-109848204-G-A | Uncertain significance (Feb 02, 2022) | |||
| 4-109848206-A-T | Uncertain significance (Jul 15, 2022) | |||
| 4-109848216-ATGTCTGTGCAT-A | Uncertain significance (Feb 18, 2022) | |||
| 4-109848216-A-AAT | Congenital stationary night blindness 1F | Uncertain significance (May 02, 2018) | ||
| 4-109848220-C-T | Likely benign (Mar 03, 2020) | |||
| 4-109848222-G-C | Likely benign (Jun 11, 2022) | |||
| 4-109848231-C-A | Congenital stationary night blindness 1F | Conflicting interpretations of pathogenicity (Oct 17, 2022) | ||
| 4-109848248-G-A | Uncertain significance (Mar 14, 2022) | |||
| 4-109848248-G-T | Uncertain significance (Oct 17, 2022) | |||
| 4-109848252-G-C | Likely benign (Feb 18, 2022) | |||
| 4-109848254-G-A | Uncertain significance (Dec 24, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RRH | protein_coding | protein_coding | ENST00000317735 | 7 | 16611 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 2.07e-9 | 0.138 | 125516 | 1 | 231 | 125748 | 0.000923 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.103 | 193 | 189 | 1.02 | 0.00000936 | 2227 |
| Missense in Polyphen | 68 | 68.18 | 0.99736 | 815 | ||
| Synonymous | 0.431 | 61 | 65.4 | 0.932 | 0.00000357 | 648 |
| Loss of Function | 0.268 | 14 | 15.1 | 0.926 | 7.27e-7 | 178 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00753 | 0.00755 |
| Ashkenazi Jewish | 0.000695 | 0.000695 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000554 | 0.000545 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.000425 | 0.000425 |
| Other | 0.000978 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.;
- Pathway
- GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Opsins;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- 0.731
- rvis_EVS
- 0.51
- rvis_percentile_EVS
- 80.1
Haploinsufficiency Scores
- pHI
- 0.224
- hipred
- N
- hipred_score
- 0.284
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.415
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rrh
- Phenotype
Gene ontology
- Biological process
- 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
- Molecular function
- G protein-coupled receptor activity;G protein-coupled photoreceptor activity