TMPRSS7

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

Basic information

Region (hg38): 3:112034736-112081269

Links

ENSG00000176040NCBI:344805HGNC:30846Uniprot:Q7RTY8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMPRSS7 gene.

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
clinvar
1
missense
45
clinvar
1
clinvar
46
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 45 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)2313719
3-112044271-C-T not specified Uncertain significance (Apr 12, 2022)2283465
3-112044309-G-T not specified Uncertain significance (Dec 17, 2023)3179957
3-112045767-G-C not specified Uncertain significance (Aug 02, 2023)2615434
3-112045806-G-A not specified Likely benign (Jun 18, 2021)2298653
3-112045829-G-A not specified Uncertain significance (May 25, 2022)2290851
3-112045884-G-A not specified Uncertain significance (Dec 21, 2023)2370174
3-112047818-G-T not specified Uncertain significance (May 05, 2023)2544347
3-112047822-A-T not specified Uncertain significance (Feb 21, 2024)3179962
3-112047856-A-G not specified Uncertain significance (Apr 01, 2024)3327368
3-112047867-C-T not specified Uncertain significance (Jul 19, 2023)2612992
3-112047897-G-A not specified Uncertain significance (Sep 16, 2021)2289336
3-112047916-C-G not specified Uncertain significance (May 23, 2023)2550019
3-112047948-C-T not specified Uncertain significance (Jun 19, 2024)3327366
3-112047965-C-T Likely benign (Aug 01, 2022)2654028
3-112049902-G-T not specified Uncertain significance (Dec 03, 2021)2264695
3-112049932-C-T not specified Uncertain significance (Feb 21, 2024)3179963
3-112049959-G-T not specified Uncertain significance (Oct 05, 2023)3179964
3-112049960-T-C not specified Uncertain significance (Oct 05, 2023)3179965
3-112057107-G-A not specified Uncertain significance (May 25, 2022)2348476
3-112057126-G-C not specified Uncertain significance (Jul 20, 2022)2302547
3-112061801-A-T not specified Uncertain significance (Apr 10, 2023)2518632
3-112061842-G-A not specified Uncertain significance (Aug 08, 2022)2225988
3-112061859-G-A Likely benign (Aug 01, 2022)2654029
3-112061912-A-G not specified Uncertain significance (Jul 12, 2022)2385179

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMPRSS7protein_codingprotein_codingENST00000419127 1546427
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.95e-180.07151228653419021248010.00779
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4033703920.9430.00002094683
Missense in Polyphen139143.270.970231700
Synonymous-0.2111461431.020.000007841365
Loss of Function1.073138.10.8130.00000205444

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.05700.0566
Ashkenazi Jewish0.001790.00179
East Asian0.04600.0461
Finnish0.0001860.000186
European (Non-Finnish)0.0007350.000733
Middle Eastern0.04600.0461
South Asian0.002990.00295
Other0.004510.00430

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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tmprss7
Phenotype

Gene ontology

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