MMP27

matrix metallopeptidase 27, the group of M10 matrix metallopeptidases

Basic information

Region (hg38): 11:102691487-102705769

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.

• not_specified (93 variants)

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. These statistics are base on transcript: NM_000022122.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			89	4		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	4	0

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