C11orf80

chromosome 11 open reading frame 80

Basic information

Region (hg38): 11:66744450-66843516

Links

ENSG00000173715 ∙ NCBI:79703 ∙ OMIM:616109 ∙ HGNC:26197 ∙ Uniprot:Q8N6T0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hydatidiform mole, recurrent, 4 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hydatidiform mole, recurrent, 4	AR	Obstetric; Oncologic	Women are likely to have pregnancies with hydatidiform moles, and awareness may allow reproductive planning and/or surveillance measures, which may allow early detection and treatment	Obstetric; Oncologic	30388401

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C11orf80 gene.

• Inborn genetic diseases (8 variants)
• Hydatidiform mole, recurrent, 4 (2 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf80 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			6		1	7
nonsense						0
start loss						0
frameshift		1				1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	1	9	1	1

Variants in C11orf80

This is a list of pathogenic ClinVar variants found in the C11orf80 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66744819-GGGCGGCGGCGGC-G		TOP6BL-related disorder	Likely benign (Mar 23, 2020)
11-66744819-G-GGGC		TOP6BL-related disorder	Benign (Nov 01, 2019)
11-66744908-G-C			Uncertain significance (-)
11-66744924-T-C		TOP6BL-related disorder	Likely benign (Feb 20, 2019)
11-66748432-A-G		TOP6BL-related disorder	Likely benign (Mar 19, 2019)
11-66748457-A-G		not specified	Uncertain significance (Oct 05, 2021)
11-66756337-CT-C		TOP6BL-related disorder	Likely benign (Feb 22, 2019)
11-66756337-C-CTT		TOP6BL-related disorder	Likely benign (Sep 20, 2019)
11-66788262-T-C		TOP6BL-related disorder	Benign (Apr 18, 2019)
11-66796355-G-A		TOP6BL-related disorder	Likely benign (Jun 27, 2019)
11-66801039-A-AT		Hydatidiform mole, recurrent, 4	Pathogenic (May 15, 2019)
11-66804038-C-A		not specified	Uncertain significance (Aug 12, 2021)
11-66813920-C-T		not specified	Uncertain significance (Dec 17, 2023)
11-66822587-A-G			Likely benign (Jan 01, 2023)
11-66822606-T-C		Hydatidiform mole, recurrent, 4	Uncertain significance (Sep 30, 2019)
11-66822655-T-G		not specified	Uncertain significance (Aug 23, 2021)
11-66822671-T-A		TOP6BL-related disorder	Likely benign (Aug 01, 2019)
11-66828311-C-T		not specified	Uncertain significance (Aug 09, 2021)
11-66838412-G-A		not specified	Uncertain significance (Jul 14, 2021)
11-66838438-C-T		TOP6BL-related disorder	Benign (Apr 18, 2019)
11-66842871-CAA-C		Hydatidiform mole, recurrent, 4	Likely pathogenic (-)
11-66842947-G-A		TOP6BL-related disorder	Benign/Likely benign (Apr 18, 2019)
11-66843021-C-T		TOP6BL-related disorder	Likely benign (Mar 19, 2019)
11-66843174-G-C		TOP6BL-related disorder	Benign (Oct 21, 2019)
11-66843468-G-A		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C11orf80	protein_coding	protein_coding	ENST00000360962	17	99066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.01e-9	0.866	124620	0	18	124638	0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.827	263	304	0.866	0.0000141	4349
Missense in Polyphen		54	67.534	0.7996		818
Synonymous	-0.610	123	115	1.07	0.00000564	1336
Loss of Function	1.72	18	27.8	0.649	0.00000130	388

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000682	0.000675
Ashkenazi Jewish	0.0000994	0.0000994
East Asian	0.00	0.00
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.0000444	0.0000442
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 3: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. {ECO:0000250|UniProtKB:J3QMY9}.

Intolerance Scores

• loftool: 0.579
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.0368
• hipred: N
• hipred_score: 0.169
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm960
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype