MUC5AC

mucin 5AC, oligomeric mucus/gel-forming, the group of Mucins

Basic information

Region (hg38): 11:1157953-1201138

Links

ENSG00000215182 ∙ NCBI:4586 ∙ OMIM:158373 ∙ HGNC:7515 ∙ Uniprot:P98088 ∙ 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 MUC5AC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC5AC 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				18		18
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5			5
Total	0	0	11	19	0

Variants in MUC5AC

This is a list of pathogenic ClinVar variants found in the MUC5AC region.

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

Position	Type	Phenotype	Significance	ClinVar
11-1161629-T-C		Lung adenocarcinoma	Uncertain significance (Jun 06, 2022)
11-1161980-C-T			Likely benign (Jul 01, 2023)
11-1165823-G-T		Lung adenocarcinoma	Uncertain significance (Jun 06, 2022)
11-1174770-C-T		Lung adenocarcinoma	Uncertain significance (Jun 06, 2022)
11-1180138-C-T		Keratoconus	Uncertain significance (Apr 01, 2023)
11-1180991-T-A		Lung adenocarcinoma	Uncertain significance (Jun 06, 2022)
11-1183604-G-A		Keratoconus	Uncertain significance (Apr 01, 2023)
11-1184956-G-T		Squamous cell carcinoma	Uncertain significance (Jun 06, 2022)
11-1185387-A-T		Lung adenocarcinoma	Likely benign (Jun 06, 2022)
11-1185556-G-C		Squamous cell carcinoma	Uncertain significance (Jun 06, 2022)
11-1187608-A-T		Lung adenocarcinoma	Uncertain significance (Jun 06, 2022)
11-1188446-C-T		Keratoconus	Uncertain significance (Apr 01, 2023)
11-1189043-C-T		Squamous cell carcinoma	Uncertain significance (Jun 06, 2022)
11-1191621-T-C			Likely benign (Aug 01, 2023)
11-1191684-C-A			Likely benign (Aug 01, 2023)
11-1191717-T-C			Likely benign (Aug 01, 2023)
11-1191741-C-T			Likely benign (Sep 01, 2023)
11-1191813-T-C			Likely benign (Sep 01, 2023)
11-1191864-C-T			Likely benign (Sep 01, 2023)
11-1191870-C-G			Likely benign (Sep 01, 2023)
11-1191930-C-T			Likely benign (Aug 01, 2023)
11-1192071-A-G			Likely benign (Sep 01, 2023)
11-1192179-C-G			Likely benign (Jun 01, 2023)
11-1192236-T-C			Likely benign (Aug 01, 2023)
11-1192335-C-T			Likely benign (Aug 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC5AC	protein_coding	protein_coding	ENST00000534821	15	70785

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.99e-9	0.982	124843	0	34	124877	0.000136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	327	398	0.823	0.0000254	4043
Missense in Polyphen		63	104.83	0.601		1143
Synonymous	-0.251	184	180	1.02	0.0000131	1229
Loss of Function	2.26	18	31.7	0.568	0.00000164	326

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000592	0.0000592
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000937	0.0000928
European (Non-Finnish)	0.000219	0.000204
Middle Eastern	0.00	0.00
South Asian	0.000235	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Gel-forming glycoprotein of gastric and respiratoy tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microrganisms and particles that are subsequently removed by the mucocilary system.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);nfkb activation by nontypeable hemophilus influenzae;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)

Haploinsufficiency Scores

• pHI: 0.156

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Muc5ac
• Phenotype: immune system phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; digestive/alimentary phenotype

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing;phosphatidylinositol-mediated signaling
• Cellular component: extracellular space;cytoplasm;Golgi lumen;plasma membrane;extracellular exosome;mucus layer
• Molecular function: extracellular matrix structural constituent