TMPRSS7
Basic information
Region (hg38): 3:112034736-112081269
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 45 | 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) | ||
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) | ||
3-112047856-A-G | not specified | Uncertain significance (Apr 01, 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) | ||
3-112047948-C-T | not specified | Uncertain significance (Jun 19, 2024) | ||
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) |
GnomAD
Source:
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:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
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