REC8

REC8 meiotic recombination protein, the group of Kleisins|Cohesin complex

Basic information

Region (hg38): 14:24171853-24180257

Previous symbols: [ "REC8L1" ]

Links

ENSG00000100918 ∙ NCBI:9985 ∙ OMIM:608193 ∙ HGNC:16879 ∙ Uniprot:O95072 ∙ 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 REC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REC8 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					2	2
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	10	1	2

Variants in REC8

This is a list of pathogenic ClinVar variants found in the REC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-24172578-A-G		not specified	Uncertain significance (Oct 25, 2022)
14-24172741-G-C		not specified	Uncertain significance (Nov 25, 2024)
14-24172747-C-T		Non-obstructive azoospermia	Uncertain significance (Jun 07, 2020)
14-24172753-T-C		not specified	Uncertain significance (Apr 08, 2022)
14-24172933-C-G		not specified	Uncertain significance (Jul 14, 2024)
14-24172942-C-A		not specified	Uncertain significance (May 18, 2023)
14-24172945-C-A		not specified	Uncertain significance (Sep 27, 2021)
14-24172948-G-T		not specified	Uncertain significance (Sep 29, 2023)
14-24173337-G-A		not specified	Uncertain significance (Jul 28, 2021)
14-24173385-C-T		not specified	Uncertain significance (Nov 07, 2022)
14-24173415-G-C			Benign (Aug 20, 2018)
14-24175535-C-T			Likely benign (Jun 23, 2018)
14-24175547-G-T		not specified	Uncertain significance (Nov 09, 2024)
14-24176902-G-A		Premature ovarian insufficiency	Likely pathogenic (Feb 09, 2021)
14-24177172-G-A			Likely benign (Mar 29, 2018)
14-24177753-CCA-C		Azoospermia	Pathogenic (Dec 20, 2021)
14-24178098-C-T		Premature ovarian insufficiency	Uncertain significance (Jan 10, 2018)
14-24178620-G-A			Benign (Jun 05, 2018)
14-24178643-C-CTG		Premature ovarian insufficiency	Likely pathogenic (Feb 09, 2021)
14-24178666-A-C		Premature ovarian failure	Uncertain significance (Mar 02, 2020)
14-24178869-G-A		not specified	Uncertain significance (Jul 20, 2021)
14-24179090-G-A			Benign (Jun 22, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REC8	protein_coding	protein_coding	ENST00000311457	19	8402

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000554	1.00	124755	0	46	124801	0.000184

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	265	342	0.776	0.0000215	3474
Missense in Polyphen		76	115.24	0.65952		1158
Synonymous	0.127	131	133	0.986	0.00000816	1146
Loss of Function	3.17	15	35.3	0.425	0.00000183	385

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000111
Finnish	0.0000929	0.0000928
European (Non-Finnish)	0.000275	0.000274
Middle Eastern	0.000167	0.000111
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity). {ECO:0000250}.
• Pathway: Oocyte meiosis - Homo sapiens (human);Reproduction;Meiotic synapsis;Meiosis;Cell Cycle (Consensus)

Recessive Scores

• pRec: 0.0921

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• pHI: 0.0813
• hipred: Y
• hipred_score: 0.523
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.540

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rec8
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: double-strand break repair via homologous recombination;oocyte maturation;double-strand break repair;sister chromatid cohesion;synaptonemal complex assembly;reciprocal meiotic recombination;male meiosis I;spermatogenesis;spermatid development;fertilization;meiotic cell cycle;seminiferous tubule development
• Cellular component: condensed nuclear chromosome kinetochore;lateral element;male germ cell nucleus;nucleus;meiotic cohesin complex;nuclear meiotic cohesin complex
• Molecular function: chromatin binding