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GeneBe

RRH

retinal pigment epithelium-derived rhodopsin homolog, the group of Opsin receptors

Basic information

Region (hg38): 4:109827971-109849123

Links

ENSG00000180245NCBI:10692OMIM:605224HGNC:10450Uniprot:O14718AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RRH gene.

  • not provided (23 variants)
  • Inborn genetic diseases (11 variants)
  • Congenital stationary night blindness 1F (3 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.

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
0
missense
9
clinvar
2
clinvar
11
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
12
clinvar
10
clinvar
22
Total 0 0 21 13 0

Variants in RRH

This is a list of pathogenic ClinVar variants found in the RRH region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
4-109828059-A-G not specified Uncertain significance (Jul 06, 2021)2234817
4-109828076-G-A not specified Uncertain significance (Jan 30, 2024)3156442
4-109833273-A-C not specified Uncertain significance (Nov 17, 2023)3156440
4-109833285-T-G not specified Uncertain significance (May 18, 2023)2548814
4-109833313-G-T not specified Uncertain significance (Dec 27, 2023)3156441
4-109835462-G-A not specified Likely benign (Apr 28, 2022)2286608
4-109835463-T-G not specified Uncertain significance (Mar 20, 2023)2526629
4-109836032-C-A Likely benign (Dec 31, 2019)738236
4-109836049-G-C not specified Uncertain significance (Jan 27, 2022)2274414
4-109836061-A-G not specified Uncertain significance (Jan 18, 2023)2462844
4-109836120-A-G not specified Uncertain significance (Feb 26, 2024)3156443
4-109836148-G-A not specified Uncertain significance (Sep 13, 2023)2599027
4-109837469-C-T not specified Likely benign (Mar 22, 2023)2511940
4-109842479-T-G not specified Uncertain significance (Sep 22, 2022)2376360
4-109842571-A-G not specified Uncertain significance (Dec 20, 2023)3156444
4-109842605-C-G not specified Uncertain significance (Sep 17, 2021)2224452
4-109842614-A-G not specified Uncertain significance (Dec 16, 2023)3156445
4-109844103-C-A not specified Uncertain significance (May 10, 2022)3156446
4-109844132-A-G not specified Uncertain significance (Jul 28, 2021)2239743
4-109848188-C-G Congenital Stationary Night Blindness, Recessive Likely benign (Jun 14, 2016)347179
4-109848202-A-G Uncertain significance (Sep 09, 2022)1404668
4-109848204-G-A Uncertain significance (Feb 02, 2022)1940840
4-109848206-A-T Uncertain significance (Dec 11, 2023)1935036
4-109848216-ATGTCTGTGCAT-A Uncertain significance (Feb 18, 2022)2098813
4-109848216-A-AAT Congenital stationary night blindness 1F Uncertain significance (May 02, 2018)631935

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRHprotein_codingprotein_codingENST00000317735 716611
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.07e-90.13812551612311257480.000923
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1031931891.020.000009362227
Missense in Polyphen6868.180.99736815
Synonymous0.4316165.40.9320.00000357648
Loss of Function0.2681415.10.9267.27e-7178

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.007530.00755
Ashkenazi Jewish0.0006950.000695
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0005540.000545
Middle Eastern0.0001090.000109
South Asian0.0004250.000425
Other0.0009780.000978

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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