MUC22

mucin 22, the group of Mucins

Basic information

Region (hg38): 6:31010474-31035402

Links

ENSG00000261272 ∙ NCBI:100507679 ∙ OMIM:613917 ∙ HGNC:39755 ∙ Uniprot:E2RYF6 ∙ 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 MUC22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC22 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				8		8
missense			115	12		127
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	115	20	0

Variants in MUC22

This is a list of pathogenic ClinVar variants found in the MUC22 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-31025529-A-C		not specified	Uncertain significance (May 30, 2022)
6-31025578-G-A		not specified	Uncertain significance (Apr 07, 2022)
6-31025670-C-T		not specified	Uncertain significance (Dec 03, 2021)
6-31025672-A-G		not specified	Uncertain significance (Dec 14, 2021)
6-31025688-C-G		not specified	Uncertain significance (May 29, 2024)
6-31025715-C-A		not specified	Uncertain significance (Aug 10, 2023)
6-31025783-A-G		not specified	Uncertain significance (Aug 10, 2021)
6-31025816-G-A		not specified	Uncertain significance (Feb 23, 2023)
6-31025912-G-T		not specified	Uncertain significance (Nov 08, 2022)
6-31025928-C-T		not specified	Uncertain significance (Apr 24, 2024)
6-31025955-C-A		not specified	Uncertain significance (Dec 28, 2023)
6-31026018-C-G		not specified	Uncertain significance (Aug 17, 2022)
6-31026042-A-G		not specified	Likely benign (Apr 24, 2023)
6-31026072-A-G		not specified	Uncertain significance (May 31, 2023)
6-31026132-G-T		not specified	Uncertain significance (May 20, 2024)
6-31026174-T-C		not specified	Uncertain significance (Mar 14, 2023)
6-31026180-C-T		not specified	Uncertain significance (Nov 18, 2022)
6-31026218-G-T		not specified	Uncertain significance (Jun 24, 2022)
6-31026260-A-G		not specified	Uncertain significance (Oct 06, 2023)
6-31026269-A-T		not specified	Uncertain significance (Aug 16, 2022)
6-31026289-G-C		not specified	Uncertain significance (Dec 06, 2022)
6-31026296-A-G		not specified	Uncertain significance (Mar 02, 2023)
6-31026302-T-A		not specified	Uncertain significance (Aug 16, 2022)
6-31026308-G-A		not specified	Uncertain significance (Mar 02, 2023)
6-31026326-A-C		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC22	protein_coding	protein_coding	ENST00000561890	4	24929

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0140	0.980	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	642	861	0.745	0.0000402	10805
Missense in Polyphen		6	14.046	0.42718		129
Synonymous	3.72	254	341	0.744	0.0000173	4362
Loss of Function	2.42	6	16.7	0.360	7.06e-7	298

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.400

Essentials

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

Gene Damage Prediction

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

Gene ontology

• Cellular component: integral component of membrane