REC114

protein-coding

REC114 meiotic recombination protein

Gene summary

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]

Previous symbols:

C15orf60

MANE transcript

NM_001042367.2

Inheritance

ClinVar variants

P:1U:50B:8

Top phenotype

Oocyte/zygote/embryo maturation arrest 10

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr15:73,443,164-73,560,013

External References & Databases

Ensembl (ENSG00000183324)

Transcript & Mutation Effects

hg38 • Region Span ~116.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

oocyte maturation defect 10STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0030925

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Oocyte/zygote/embryo maturation arrest 10AR

Manifestation: Obstetric

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 31704776

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to REC114 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 3

REC114-related disorderTotal: 3

Oocyte maturation defect 10Total: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001042367.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense	1 clinvar		49 clinvar	6 clinvar	1 clinvar	57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	1	0	50	7	1	59

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001042367.2	RefSeq	NP_001035826.1	6	MANE Select
ENST00000331090.11	Ensembl	ENSP00000328423.6	6	MANE Select
NM_001348772.2	RefSeq	NP_001335701.1	5	Standard
ENST00000560581.1	Ensembl	ENSP00000452908.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

DNA recombination
meiotic cell cycle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331090
Coding exons: 6
Length: 116857
Individuals with no LoFs: 124594
Homozygous LoFs: 0
Heterozygous LoFs: 43
Defined: 124637
p: 0.000173

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.312	136	147	0.927	0.00000848	1667
Missense (PolyPhen)		39	50.041	0.77936		582
Synonymous	-0.111	61	59.9	1.02	0.00000365	532
Loss of Function	1.27	9	14.2	0.635	6.67e-7	163

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00081	0.00080	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000049	0.000046	rare
European (Non-Finnish)	0.00024	0.00019	rare
South Asian	0.000072	0.000065	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. {ECO:0000250|UniProtKB:Q9CWH4}.;

Recessive Scores

pRec: 0.0839

Intolerance Scores

RVIS EVS: -0.01
RVIS percentile EVS: 53.51

Essentials

Essential (gene trap): N