RXFP1

relaxin family peptide receptor 1, the group of Relaxin family peptide receptors

Basic information

Region (hg38): 4:158315310-158653372

Previous symbols: [ "LGR7" ]

Links

ENSG00000171509 ∙ NCBI:59350 ∙ OMIM:606654 ∙ HGNC:19718 ∙ Uniprot:Q9HBX9 ∙ 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 RXFP1 gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RXFP1 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				1		1
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in RXFP1

This is a list of pathogenic ClinVar variants found in the RXFP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-158572715-C-G		not specified	Uncertain significance (Dec 19, 2023)
4-158599331-G-A		not specified	Likely benign (Nov 30, 2022)
4-158599347-A-C		not specified	Uncertain significance (Sep 19, 2022)
4-158599395-G-A		not specified	Uncertain significance (Feb 06, 2024)
4-158605086-A-C		not specified	Uncertain significance (Oct 06, 2022)
4-158612317-G-A		not specified	Uncertain significance (May 23, 2023)
4-158617147-G-T		not specified	Uncertain significance (Nov 08, 2022)
4-158617148-T-A		not specified	Uncertain significance (Jan 23, 2024)
4-158617184-A-G		not specified	Uncertain significance (Apr 08, 2022)
4-158617188-G-A		not specified	Uncertain significance (Dec 28, 2022)
4-158633440-C-T		not specified	Uncertain significance (May 15, 2023)
4-158638009-A-G		not specified	Uncertain significance (May 03, 2023)
4-158639301-T-C		not specified	Uncertain significance (Jun 24, 2022)
4-158639316-T-A		not specified	Uncertain significance (Mar 22, 2023)
4-158646823-G-A		not specified	Uncertain significance (Feb 12, 2024)
4-158646862-A-G		not specified	Uncertain significance (Jan 04, 2024)
4-158646883-A-T		not specified	Uncertain significance (Feb 21, 2024)
4-158646907-G-T		not specified	Uncertain significance (Sep 22, 2022)
4-158646964-A-T		not specified	Uncertain significance (Nov 30, 2022)
4-158647115-A-G		not specified	Uncertain significance (Aug 12, 2021)
4-158647171-G-T		not specified	Uncertain significance (Jul 13, 2021)
4-158647177-A-T		not specified	Uncertain significance (Jun 05, 2023)
4-158648628-G-A		not specified	Uncertain significance (May 24, 2023)
4-158648704-G-T		not specified	Uncertain significance (Jul 25, 2023)
4-158651775-T-C		not specified	Uncertain significance (Feb 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RXFP1	protein_coding	protein_coding	ENST00000307765	18	338062

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.39e-12	0.925	124694	1	100	124795	0.000405

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	329	391	0.840	0.0000191	4993
Missense in Polyphen		78	108.32	0.72006		1399
Synonymous	1.25	121	140	0.866	0.00000725	1388
Loss of Function	2.08	25	39.0	0.641	0.00000189	515

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000439	0.000439
Ashkenazi Jewish	0.0000995	0.0000993
East Asian	0.00	0.00
Finnish	0.000696	0.000696
European (Non-Finnish)	0.000396	0.000388
Middle Eastern	0.00	0.00
South Asian	0.000786	0.000752
Other	0.00133	0.00132

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP.
• Pathway: Relaxin signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;Myometrial Relaxation and Contraction Pathways;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Relaxin receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.168

Intolerance Scores

• loftool: 0.753
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• pHI: 0.218
• hipred: N
• hipred_score: 0.393
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0899

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rxfp1
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); reproductive system phenotype; skeleton phenotype; respiratory system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;hormone-mediated signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;protein binding;G protein-coupled peptide receptor activity;metal ion binding