REC114

Chr 15AR

REC114 meiotic recombination protein

Also known as: C15orf60, CT147, OOMD10, OZEMA10

NCBI Gene: 283677 ENSG00000183324 UniProt: Q7Z4M0 OMIM: 618421

The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Oocyte/zygote/embryo maturation arrest 10MIM #619176

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Oocyte/zygote/embryo maturation arrest 10; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.11

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.11LOEUF

pLI 0.000

Z-score 1.27

OE 0.64 (0.38–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.31Z-score

OE missense 0.93 (0.81–1.07)

136 obs / 146.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.64 (0.38–1.11)

0≤0.351.4

Missense OE?0.93 (0.81–1.07)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 9 / 14.2Missense obs/exp: 136 / 146.6Syn Z: -0.11

Background carrier burden — how many people carry a rare variant somewhere in REC114?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

367 rare PASS variants

Rare truncating (LoF)

1 in 1,700

81 rare PASS variants

Rare synonymous (reference)

1 in 320

142 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for REC114. 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 180	1 in 1,900
South Asian	~43k	1 in 200	1 in 790
Remaining (unassigned)	~30k	1 in 170	1 in 1,700
European (Finnish)	~27k	1 in 2,100	1 in 3,300
Admixed American	~22k	1 in 150	1 in 1,700
African / African American	~21k	1 in 180	1 in 1,700
East Asian	~20k	1 in 150	1 in 2,500
Ashkenazi Jewish	~13k	1 in 390	1 in 620
Middle Eastern	~2,884	1 in 120	1 in 460

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 6.? see exons ↓