RXFP4

Chr 1

relaxin family peptide/INSL5 receptor 4

Also known as: GPCR142, GPR100, RLN3R2, RXFPR4

NCBI Gene: 339403 ENSG00000173080 UniProt: Q8TDU9 OMIM: 609043

GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]

OMIM Research

GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.70

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.70LOEUF

pLI 0.000

Z-score 0.04

OE 0.98 (0.57–1.70)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.66Z-score

OE missense 0.88 (0.79–0.99)

209 obs / 237.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.98 (0.57–1.70)

0≤0.351.4

Missense OE?0.88 (0.79–0.99)

0≤0.61.4

Synonymous OE?0.80

0≤1.21.6

LoF obs/exp: 8 / 8.1Missense obs/exp: 209 / 237.4Syn Z: 1.61

Background carrier burden — how many people carry a rare variant somewhere in RXFP4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 74

463 rare PASS variants

Rare truncating (LoF)

1 in 1,800

71 rare PASS variants

Rare synonymous (reference)

1 in 220

192 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RXFP4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 92	1 in 2,900
South Asian	~43k	1 in 68	1 in 1,200
Remaining (unassigned)	~30k	1 in 78	1 in 1,900
European (Finnish)	~27k	1 in 240	none seen
Admixed American	~22k	1 in 64	1 in 1,000
African / African American	~21k	1 in 86	1 in 600
East Asian	~20k	1 in 110	1 in 680
Ashkenazi Jewish	~13k	1 in 350	none seen
Middle Eastern	~2,884	1 in 92	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓