MUC16

mucin 16, cell surface associated, the group of Mucins

Basic information

Region (hg38): 19:8848843-8981342

Links

ENSG00000181143 ∙ NCBI:94025 ∙ OMIM:606154 ∙ HGNC:15582 ∙ Uniprot:Q8WXI7 ∙ 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 MUC16 gene.

• not provided (127 variants)
• Abnormality of neuronal migration (6 variants)
• Neutropenia;Lymphopenia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC16 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				44	23	67
missense				25	35	60
nonsense						0
start loss						0
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)				5		5
splice region						0
non coding						0
Total	0	0	0	74	60

Variants in MUC16

This is a list of pathogenic ClinVar variants found in the MUC16 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-8851267-C-G		MUC16-related disorder	Benign (Feb 18, 2019)
19-8851305-C-G		MUC16-related disorder	Benign (Oct 17, 2019)
19-8851713-G-A		MUC16-related disorder	Benign (Feb 26, 2019)
19-8856089-C-T		MUC16-related disorder	Likely benign (Jun 01, 2022)
19-8856110-C-T		MUC16-related disorder	Likely benign (Feb 26, 2019)
19-8858668-A-G		MUC16-related disorder	Benign/Likely benign (Apr 01, 2023)
19-8858760-A-T		MUC16-related disorder	Likely benign (Jun 12, 2019)
19-8861005-A-C			Likely benign (May 01, 2022)
19-8861016-C-T		MUC16-related disorder	Likely benign (Mar 04, 2019)
19-8862883-T-C		MUC16-related disorder	Benign (Apr 25, 2019)
19-8862912-A-G		MUC16-related disorder	Benign (Apr 08, 2019)
19-8863312-C-T		MUC16-related disorder	Benign/Likely benign (Nov 01, 2022)
19-8865686-C-T		MUC16-related disorder	Benign (Oct 28, 2019)
19-8865687-G-C			Likely benign (Dec 01, 2022)
19-8865756-C-T		MUC16-related disorder	Likely benign (Aug 15, 2019)
19-8868536-C-T		MUC16-related disorder	Likely benign (Mar 31, 2022)
19-8868537-G-A		MUC16-related disorder	Likely benign (Jun 21, 2019)
19-8868547-G-C		MUC16-related disorder	Benign (Feb 19, 2019)
19-8871472-G-A		MUC16-related disorder	Likely benign (Mar 25, 2019)
19-8871536-A-G		MUC16-related disorder	Benign (Jun 28, 2019)
19-8871590-G-A		MUC16-related disorder	Benign (Jun 28, 2019)
19-8871595-G-A		MUC16-related disorder	Benign (Jan 03, 2020)
19-8871627-C-T		MUC16-related disorder	Benign (Mar 14, 2019)
19-8871641-G-A			Likely benign (Mar 01, 2022)
19-8876542-G-T		MUC16-related disorder	Benign (Oct 18, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC16	protein_coding	protein_coding	ENST00000397910	84	132499

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.27e-112	0.994	124430	0	274	124704	0.00110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-8.06	9193	7.26e+3	1.27	0.000357	91882
Missense in Polyphen		651	575.15	1.1319		7547
Synonymous	-8.41	3384	2.82e+3	1.20	0.000145	32884
Loss of Function	5.45	232	341	0.681	0.0000157	5070

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00610	0.00594
Ashkenazi Jewish	0.00110	0.00109
East Asian	0.000618	0.000612
Finnish	0.000325	0.000325
European (Non-Finnish)	0.000850	0.000823
Middle Eastern	0.000618	0.000612
South Asian	0.00112	0.00111
Other	0.00117	0.00115

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. {ECO:0000250}.
• Pathway: Post-translational protein modification;Dectin-2 family;Metabolism of proteins;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Termination of O-glycan biosynthesis;O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Intolerance Scores

• loftool: 0.998
• rvis_EVS: 29.75
• rvis_percentile_EVS: 100

Haploinsufficiency Scores

• pHI: 0.0588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0690

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Muc16
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;cell adhesion;O-glycan processing
• Cellular component: Golgi lumen;plasma membrane;integral component of membrane;extrinsic component of membrane;vesicle;extracellular exosome
• Molecular function: protein binding