MMP27

matrix metallopeptidase 27, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102691486-102705769

Links

ENSG00000137675 ∙ NCBI:64066 ∙ OMIM:618101 ∙ HGNC:14250 ∙ Uniprot:Q9H306 ∙ 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 MMP27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP27 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						0
missense			43	3		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	3	0

Variants in MMP27

This is a list of pathogenic ClinVar variants found in the MMP27 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-102691843-T-C		not specified	Uncertain significance (Dec 17, 2023)
11-102691935-C-T		not specified	Likely benign (Jun 06, 2023)
11-102691944-C-T		not specified	Uncertain significance (Sep 26, 2022)
11-102691955-C-G		not specified	Uncertain significance (Aug 14, 2023)
11-102691979-T-G		not specified	Uncertain significance (Jun 29, 2022)
11-102691992-C-T		not specified	Uncertain significance (Nov 30, 2022)
11-102692010-C-T		not specified	Uncertain significance (Jul 17, 2023)
11-102692939-T-A		not specified	Uncertain significance (Jan 26, 2022)
11-102692968-T-A		not specified	Uncertain significance (Jan 02, 2024)
11-102692983-A-G		not specified	Uncertain significance (Aug 17, 2021)
11-102693004-G-A		not specified	Uncertain significance (Jan 07, 2022)
11-102693019-T-C		not specified	Uncertain significance (Oct 13, 2023)
11-102693915-C-A		not specified	Uncertain significance (Jul 25, 2023)
11-102693924-A-G		not specified	Uncertain significance (Oct 10, 2023)
11-102693929-G-C		not specified	Uncertain significance (Jan 12, 2024)
11-102693933-T-C		not specified	Uncertain significance (Feb 03, 2022)
11-102693972-A-G		not specified	Uncertain significance (Apr 07, 2023)
11-102694041-C-T		not specified	Uncertain significance (Dec 13, 2023)
11-102694042-C-G		not specified	Uncertain significance (Aug 13, 2021)
11-102695029-G-C		not specified	Uncertain significance (Sep 22, 2022)
11-102695097-C-A		not specified	Uncertain significance (Feb 27, 2024)
11-102696381-A-G		not specified	Uncertain significance (Aug 09, 2021)
11-102696385-C-T		not specified	Uncertain significance (Mar 20, 2024)
11-102696399-G-A		not specified	Uncertain significance (Aug 02, 2023)
11-102696419-A-G		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMP27	protein_coding	protein_coding	ENST00000260229	10	14320

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.34e-22	0.000115	125575	1	169	125745	0.000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.662	309	278	1.11	0.0000140	3397
Missense in Polyphen		125	109.97	1.1367		1364
Synonymous	-0.688	105	96.4	1.09	0.00000484	945
Loss of Function	-1.12	29	23.2	1.25	0.00000123	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00410	0.00404
Ashkenazi Jewish	0.000596	0.000595
East Asian	0.000601	0.000598
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000510	0.000501
Middle Eastern	0.000601	0.000598
South Asian	0.000235	0.000229
Other	0.00164	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens. {ECO:0000250}.
• Pathway: Matrix Metalloproteinases (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 1.18
• rvis_percentile_EVS: 92.79

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.131
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0926

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmp27

Gene ontology

• Biological process: proteolysis;extracellular matrix organization;collagen catabolic process
• Cellular component: extracellular space;extracellular matrix;extrinsic component of endoplasmic reticulum membrane
• Molecular function: metalloendopeptidase activity;zinc ion binding