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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:O14718AlphaFoldGenCCjaxSfariGnomADPubmed

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 (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)link
4-109833285-T-G Inborn genetic diseases Uncertain significance (May 18, 2023)link
4-109835462-G-A Inborn genetic diseases Likely benign (Apr 28, 2022)link
4-109835463-T-G Inborn genetic diseases Uncertain significance (Mar 20, 2023)link
4-109836032-C-A Likely benign (Dec 31, 2019)link
4-109836049-G-C Inborn genetic diseases Uncertain significance (Jan 27, 2022)link
4-109836061-A-G Inborn genetic diseases Uncertain significance (Jan 18, 2023)link
4-109836148-G-A Inborn genetic diseases Uncertain significance (Sep 13, 2023)link
4-109837469-C-T Inborn genetic diseases Likely benign (Mar 22, 2023)link
4-109842479-T-G Inborn genetic diseases Uncertain significance (Sep 22, 2022)link
4-109842605-C-G Inborn genetic diseases Uncertain significance (Sep 17, 2021)link
4-109844132-A-G Inborn genetic diseases Uncertain significance (Jul 28, 2021)link
4-109848188-C-G Congenital Stationary Night Blindness, Recessive Likely benign (Jun 14, 2016)link
4-109848202-A-G Uncertain significance (Sep 09, 2022)link
4-109848204-G-A Uncertain significance (Feb 02, 2022)link
4-109848206-A-T Uncertain significance (Jul 15, 2022)link
4-109848216-ATGTCTGTGCAT-A Uncertain significance (Feb 18, 2022)link
4-109848216-A-AAT Congenital stationary night blindness 1F Uncertain significance (May 02, 2018)link
4-109848220-C-T Likely benign (Mar 03, 2020)link
4-109848222-G-C Likely benign (Jun 11, 2022)link
4-109848231-C-A Congenital stationary night blindness 1F Conflicting interpretations of pathogenicity (Oct 17, 2022)link
4-109848248-G-A Uncertain significance (Mar 14, 2022)link
4-109848248-G-T Uncertain significance (Oct 17, 2022)link
4-109848252-G-C Likely benign (Feb 18, 2022)link
4-109848254-G-A Uncertain significance (Dec 24, 2021)link

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