TMPRSS11F

transmembrane serine protease 11F, the group of Type II transmembrane serine proteases

Basic information

Region (hg38): 4:68053198-68129869

Links

ENSG00000198092 ∙ NCBI:389208 ∙ ∙ HGNC:29994 ∙ Uniprot:Q6ZWK6 ∙ 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 TMPRSS11F gene.

• not_specified (50 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS11F gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207407.2. 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			45	5		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS11F	protein_coding	protein_coding	ENST00000356291	10	76683

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.24e-9	0.788	125703	0	44	125747	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.388	212	229	0.928	0.0000110	2845
Missense in Polyphen		76	91.12	0.83407		1137
Synonymous	-0.448	78	73.1	1.07	0.00000336	832
Loss of Function	1.56	18	26.7	0.674	0.00000175	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000548	0.000533
Ashkenazi Jewish	0.00	0.00
East Asian	0.000117	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000204	0.000202
Middle Eastern	0.000117	0.000109
South Asian	0.000165	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable serine protease. {ECO:0000250}.

Recessive Scores

• pRec: 0.0985

Intolerance Scores

• loftool: 0.333
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.19

Haploinsufficiency Scores

• pHI: 0.0542
• hipred: N
• hipred_score: 0.184
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.129

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmprss11f

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region;integral component of plasma membrane
• Molecular function: serine-type endopeptidase activity