TMPRSS7

transmembrane serine protease 7, the group of Type II transmembrane serine proteases

Basic information

Region (hg38): 3:112034735-112081269

Links

ENSG00000176040 ∙ NCBI:344805 ∙ ∙ HGNC:30846 ∙ Uniprot:Q7RTY8 ∙ 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 TMPRSS7 gene.

• Inborn genetic diseases (29 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS7 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				1		1
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	28	2	0

Variants in TMPRSS7

This is a list of pathogenic ClinVar variants found in the TMPRSS7 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-112042015-G-A		not specified	Uncertain significance (Oct 12, 2021)
3-112044271-C-T		not specified	Uncertain significance (Apr 12, 2022)
3-112044309-G-T		not specified	Uncertain significance (Dec 17, 2023)
3-112045767-G-C		not specified	Uncertain significance (Aug 02, 2023)
3-112045806-G-A		not specified	Likely benign (Jun 18, 2021)
3-112045829-G-A		not specified	Uncertain significance (May 25, 2022)
3-112045884-G-A		not specified	Uncertain significance (Dec 21, 2023)
3-112047818-G-T		not specified	Uncertain significance (May 05, 2023)
3-112047822-A-T		not specified	Uncertain significance (Feb 21, 2024)
3-112047867-C-T		not specified	Uncertain significance (Jul 19, 2023)
3-112047897-G-A		not specified	Uncertain significance (Sep 16, 2021)
3-112047916-C-G		not specified	Uncertain significance (May 23, 2023)
3-112047965-C-T			Likely benign (Aug 01, 2022)
3-112049902-G-T		not specified	Uncertain significance (Dec 03, 2021)
3-112049932-C-T		not specified	Uncertain significance (Feb 21, 2024)
3-112049959-G-T		not specified	Uncertain significance (Oct 05, 2023)
3-112049960-T-C		not specified	Uncertain significance (Oct 05, 2023)
3-112057107-G-A		not specified	Uncertain significance (May 25, 2022)
3-112057126-G-C		not specified	Uncertain significance (Jul 20, 2022)
3-112061801-A-T		not specified	Uncertain significance (Apr 10, 2023)
3-112061842-G-A		not specified	Uncertain significance (Aug 08, 2022)
3-112061859-G-A			Likely benign (Aug 01, 2022)
3-112061912-A-G		not specified	Uncertain significance (Jul 12, 2022)
3-112063547-A-T		not specified	Uncertain significance (Jan 26, 2022)
3-112063582-G-A		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS7	protein_coding	protein_coding	ENST00000419127	15	46427

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.95e-18	0.0715	122865	34	1902	124801	0.00779

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.403	370	392	0.943	0.0000209	4683
Missense in Polyphen		139	143.27	0.97023		1700
Synonymous	-0.211	146	143	1.02	0.00000784	1365
Loss of Function	1.07	31	38.1	0.813	0.00000205	444

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0570	0.0566
Ashkenazi Jewish	0.00179	0.00179
East Asian	0.0460	0.0461
Finnish	0.000186	0.000186
European (Non-Finnish)	0.000735	0.000733
Middle Eastern	0.0460	0.0461
South Asian	0.00299	0.00295
Other	0.00451	0.00430

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position. {ECO:0000250}.

Recessive Scores

• pRec: 0.143

Intolerance Scores

• loftool: 0.539
• rvis_EVS: 1.03
• rvis_percentile_EVS: 91.07

Haploinsufficiency Scores

• pHI: 0.0801
• hipred: N
• hipred_score: 0.204

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0845

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmprss7

Gene ontology

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