MUC21

mucin 21, cell surface associated, the group of Mucins

Basic information

Region (hg38): 6:30983717-30989903

Previous symbols: [ "C6orf205" ]

Links

ENSG00000204544 ∙ NCBI:394263 ∙ OMIM:616991 ∙ HGNC:21661 ∙ Uniprot:Q5SSG8 ∙ 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 MUC21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC21 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				33		33
missense			26	7		33
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7	8		15
Total	0	0	33	48	1

Variants in MUC21

This is a list of pathogenic ClinVar variants found in the MUC21 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30986308-G-A		not specified	Uncertain significance (Nov 06, 2023)
6-30986350-A-G		not specified	Uncertain significance (Jun 02, 2023)
6-30986373-C-A		not specified	Uncertain significance (Apr 06, 2024)
6-30986374-G-A		not specified	Uncertain significance (Apr 08, 2022)
6-30986378-C-T		not specified	Uncertain significance (May 20, 2024)
6-30986419-A-G		not specified	Uncertain significance (Dec 14, 2022)
6-30986422-A-G		not specified	Uncertain significance (Jan 04, 2022)
6-30986443-G-A		not specified	Uncertain significance (May 29, 2024)
6-30986478-G-A			Likely benign (Jun 01, 2024)
6-30986501-A-G		not specified	Likely benign (Jun 07, 2023)
6-30986514-C-G			Likely benign (Mar 01, 2024)
6-30986547-G-C		not specified	Uncertain significance (Mar 29, 2022)
6-30986550-C-T			Likely benign (Aug 01, 2023)
6-30986561-C-T		not specified	Uncertain significance (Apr 06, 2024)
6-30986564-G-A		not specified	Uncertain significance (Aug 13, 2021)
6-30986572-A-G		not specified	Uncertain significance (Aug 13, 2021)
6-30986573-G-A		not specified	Uncertain significance (Apr 29, 2024)
6-30986595-C-T			Likely benign (Feb 01, 2023)
6-30986611-G-A		not specified	Uncertain significance (Dec 31, 2023)
6-30986661-C-T			Likely benign (Aug 01, 2023)
6-30986688-C-T			Likely benign (Aug 01, 2023)
6-30986703-G-A			Likely benign (Aug 01, 2023)
6-30986706-C-T			Likely benign (Mar 01, 2024)
6-30986731-A-G		not specified	Uncertain significance (Dec 01, 2022)
6-30986826-G-A			Likely benign (May 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC21	protein_coding	protein_coding	ENST00000376296	3	6186

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0802	0.767	123171	0	1	123172	0.00000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.567	253	280	0.905	0.0000140	3539
Missense in Polyphen		26	31.274	0.83137		362
Synonymous	-0.938	126	113	1.11	0.00000598	1194
Loss of Function	1.04	2	4.33	0.462	1.87e-7	65

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)	0.00000905	0.00000905
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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: 0.886
• rvis_EVS: 2.44
• rvis_percentile_EVS: 98.56

Haploinsufficiency Scores

• pHI: 0.0635
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing;negative regulation of cell-cell adhesion
• Cellular component: Golgi lumen;plasma membrane;integral component of membrane