RRH

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

Basic information

Region (hg38): 4:109827972-109849123

Links

ENSG00000180245 ∙ NCBI:10692 ∙ OMIM:605224 ∙ HGNC:10450 ∙ Uniprot:O14718 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			16	2		18
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			12	10		22
Total	0	0	28	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)
4-109828076-G-A		not specified	Uncertain significance (Jan 30, 2024)
4-109828107-T-C		not specified	Uncertain significance (Jun 04, 2024)
4-109833273-A-C		not specified	Uncertain significance (Nov 17, 2023)
4-109833285-T-G		not specified	Uncertain significance (May 18, 2023)
4-109833313-G-T		not specified	Uncertain significance (Dec 27, 2023)
4-109835462-G-A		not specified	Likely benign (Apr 28, 2022)
4-109835463-T-G		not specified	Uncertain significance (Mar 20, 2023)
4-109836013-G-A		not specified	Uncertain significance (Apr 04, 2024)
4-109836032-C-A			Likely benign (Dec 31, 2019)
4-109836049-G-C		not specified	Uncertain significance (Jan 27, 2022)
4-109836061-A-G		not specified	Uncertain significance (Jan 18, 2023)
4-109836120-A-G		not specified	Uncertain significance (Feb 26, 2024)
4-109836148-G-A		not specified	Uncertain significance (Sep 13, 2023)
4-109837469-C-T		not specified	Likely benign (Mar 22, 2023)
4-109837553-A-G		not specified	Uncertain significance (May 29, 2024)
4-109842479-T-G		not specified	Uncertain significance (Sep 22, 2022)
4-109842571-A-G		not specified	Uncertain significance (Dec 20, 2023)
4-109842605-C-G		not specified	Uncertain significance (Sep 17, 2021)
4-109842614-A-G		not specified	Uncertain significance (Dec 16, 2023)
4-109844103-C-A		not specified	Uncertain significance (May 10, 2022)
4-109844132-A-G		not specified	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)

GnomAD

Source: gnomAD

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: 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

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

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