MEIOC

meiosis specific with coiled-coil domain

Basic information

Region (hg38): 17:44656404-44690308

Previous symbols: [ "C17orf104" ]

Links

ENSG00000180336 ∙ NCBI:284071 ∙ OMIM:616934 ∙ HGNC:26670 ∙ Uniprot:A2RUB1 ∙ 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 MEIOC gene.

• not_provided (1 variants)
• not_specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEIOC gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145080.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				1	1	2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEIOC	protein_coding	protein_coding	ENST00000409122	8	33915

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000332	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	362	474	0.764	0.0000231	6263
Missense in Polyphen		79	138.52	0.57032		2014
Synonymous	2.18	133	169	0.787	0.00000818	1776
Loss of Function	5.50	0	35.3	0.00	0.00000171	507

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle. {ECO:0000250|UniProtKB:A2AG06}.

Intolerance Scores

• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.05

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.435
• ghis: 0.411

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Meioc
• Phenotype: reproductive system phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: double-strand break repair;synaptonemal complex assembly;male meiosis I;female meiosis I;spermatid development;mRNA stabilization;oocyte development;metaphase plate congression;germline cell cycle switching, mitotic to meiotic cell cycle;chromosome organization involved in meiotic cell cycle
• Cellular component: nucleus;cytoplasm