REC114

REC114 meiotic recombination protein

Basic information

Region (hg38): 15:73443164-73560013

Previous symbols: [ "C15orf60" ]

Links

ENSG00000183324 ∙ NCBI:283677 ∙ OMIM:618421 ∙ HGNC:25065 ∙ Uniprot:Q7Z4M0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 10	AR	General	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	Obstetric	31704776

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the REC114 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REC114 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			15	6	1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	15	7	2

Variants in REC114

This is a list of pathogenic ClinVar variants found in the REC114 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-73443182-G-A		REC114-related disorder	Benign (Apr 30, 2019)
15-73443214-G-A		not specified	Uncertain significance (Sep 03, 2024)
15-73443216-C-G		not specified	Uncertain significance (Apr 07, 2022)
15-73443219-G-C		not specified	Uncertain significance (May 15, 2024)
15-73443240-G-C		not specified	Uncertain significance (Dec 26, 2023)
15-73443244-A-T		not specified	Uncertain significance (May 30, 2023)
15-73443249-C-T		not specified	Uncertain significance (Nov 25, 2024)
15-73443250-C-T		not specified	Uncertain significance (Apr 22, 2024)
15-73443258-C-G		not specified	Uncertain significance (Dec 28, 2022)
15-73443258-C-T		not specified	Uncertain significance (Dec 17, 2023)
15-73443280-C-T		not specified	Likely benign (Jun 10, 2022)
15-73443330-T-A		not specified	Likely benign (Aug 02, 2021)
15-73473845-A-G		not specified	Likely benign (Jun 29, 2022)
15-73473870-C-T		REC114-related disorder	Likely benign (Jun 01, 2023)
15-73473905-A-G		not specified	Uncertain significance (Sep 29, 2023)
15-73473916-C-A		not specified	Uncertain significance (Sep 27, 2024)
15-73540514-C-G		not specified	Uncertain significance (Jun 30, 2024)
15-73540561-C-T		not specified	Uncertain significance (Dec 08, 2023)
15-73551001-T-G		Oocyte maturation defect 10	Pathogenic (Apr 10, 2023)
15-73551046-G-A		REC114-related disorder	Benign (Dec 31, 2019)
15-73551139-C-T		not specified	Likely benign (Mar 23, 2023)
15-73551155-G-A		Oocyte maturation defect 10	Pathogenic (Apr 10, 2023)
15-73556299-C-T		REC114-related disorder	Benign (Dec 26, 2018)
15-73556305-C-T		not specified	Uncertain significance (Jun 03, 2022)
15-73556335-G-A		not specified	Uncertain significance (Dec 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REC114	protein_coding	protein_coding	ENST00000331090	6	116857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000327	0.817	124594	0	43	124637	0.000173

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.312	136	147	0.927	0.00000848	1667
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000311	0.000311
Ashkenazi Jewish	0.000812	0.000795
East Asian	0.000111	0.000111
Finnish	0.0000495	0.0000464
European (Non-Finnish)	0.000238	0.000195
Middle Eastern	0.000111	0.000111
South Asian	0.0000724	0.0000654
Other	0.000166	0.000165

dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.401

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Rec114

Gene ontology

• Biological process: DNA recombination;meiotic cell cycle