MUC7

mucin 7, secreted, the group of Mucins

Basic information

Region (hg38): 4:70430492-70482997

Links

ENSG00000171195 ∙ NCBI:4589 ∙ OMIM:158375 ∙ HGNC:7518 ∙ Uniprot:Q8TAX7 ∙ 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 MUC7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC7 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			19	4		23
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	5	1

Variants in MUC7

This is a list of pathogenic ClinVar variants found in the MUC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-70474042-T-G		not specified	Likely benign (Mar 24, 2023)
4-70480821-A-G		not specified	Uncertain significance (Apr 09, 2024)
4-70480850-C-G		not specified	Uncertain significance (Jan 31, 2022)
4-70480889-C-T		not specified	Uncertain significance (Aug 10, 2021)
4-70480899-T-C		not specified	Likely benign (Dec 26, 2023)
4-70480944-A-G		not specified	Uncertain significance (Sep 25, 2023)
4-70480949-C-A		not specified	Uncertain significance (Aug 08, 2022)
4-70480950-G-A		not specified	Uncertain significance (Jan 24, 2023)
4-70480950-G-T		not specified	Uncertain significance (May 30, 2024)
4-70480979-A-G		not specified	Uncertain significance (Jun 21, 2023)
4-70480990-C-G			Likely benign (Aug 01, 2022)
4-70481027-G-C		not specified	Uncertain significance (Sep 17, 2021)
4-70481038-C-A		not specified	Uncertain significance (Feb 15, 2023)
4-70481045-G-A		not specified	Uncertain significance (Mar 31, 2024)
4-70481100-C-T		not specified	Uncertain significance (Mar 25, 2024)
4-70481195-G-A		not specified	Uncertain significance (Dec 01, 2022)
4-70481292-C-T		not specified	Uncertain significance (Jun 24, 2022)
4-70481315-G-A		not specified	Uncertain significance (Feb 28, 2024)
4-70481342-C-G		not specified	Uncertain significance (Mar 02, 2023)
4-70481399-C-T		not specified	Likely benign (Jun 01, 2024)
4-70481421-CATCTTCCTCAGCTCCACCAGAGACCACAGCTGCCCCACCCACACCTTCTGCAACTACACCAGCTCCACT-C		Asthma, protection against	Benign (Jul 07, 2018)
4-70481439-C-T		not specified	Uncertain significance (Dec 28, 2022)
4-70481612-A-G		not specified	Uncertain significance (Jun 03, 2022)
4-70481637-C-T		not specified	Uncertain significance (Oct 25, 2023)
4-70481696-C-G		not specified	Uncertain significance (Mar 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC7	protein_coding	protein_coding	ENST00000413702	2	52506

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0146	0.464	125021	0	2	125023	0.00000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.326	209	196	1.07	0.00000983	2348
Missense in Polyphen		13	18.844	0.68987		215
Synonymous	1.19	61	74.0	0.824	0.00000391	917
Loss of Function	-0.773	2	1.12	1.79	4.76e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000623	0.0000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000885
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili. {ECO:0000269|PubMed:11378823, ECO:0000269|PubMed:8104046}.
• Disease: DISEASE: Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:11378823}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: Salivary secretion - Homo sapiens (human);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)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 2.46
• rvis_percentile_EVS: 98.58

Haploinsufficiency Scores

• pHI: 0.0590
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.164

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;killing of cells of other organism;antimicrobial humoral immune response mediated by antimicrobial peptide
• Cellular component: Golgi lumen;plasma membrane;other organism cell membrane;extracellular exosome;other organism cytoplasm
• Molecular function: protein binding