DPEP3
Basic information
Region (hg38): 16:67975663-67980549
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 DPEP3 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 | 24 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 2 | |||||
Total | 0 | 0 | 26 | 2 | 1 |
Variants in DPEP3
This is a list of pathogenic ClinVar variants found in the DPEP3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-67975859-C-T | not specified | Likely benign (Apr 07, 2022) | ||
16-67975862-T-C | not specified | Likely benign (Jun 02, 2023) | ||
16-67975917-C-T | not specified | Uncertain significance (Aug 02, 2023) | ||
16-67975961-T-A | not specified | Uncertain significance (Aug 09, 2021) | ||
16-67976141-T-G | not specified | Uncertain significance (Jun 13, 2022) | ||
16-67976166-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
16-67976167-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
16-67977296-A-G | not specified | Uncertain significance (Jun 24, 2022) | ||
16-67977312-C-A | not specified | Uncertain significance (Nov 10, 2024) | ||
16-67977336-C-T | not specified | Uncertain significance (Sep 26, 2022) | ||
16-67977338-A-T | not specified | Uncertain significance (Oct 12, 2021) | ||
16-67977349-C-A | not specified | Uncertain significance (Aug 02, 2022) | ||
16-67977735-G-C | not specified | Uncertain significance (Sep 27, 2021) | ||
16-67977771-T-C | not specified | Uncertain significance (Aug 10, 2021) | ||
16-67977799-T-C | not specified | Uncertain significance (Oct 12, 2024) | ||
16-67977943-C-G | not specified | Uncertain significance (Mar 23, 2022) | ||
16-67977958-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
16-67977982-G-A | not specified | Uncertain significance (Mar 24, 2023) | ||
16-67978268-A-G | not specified | Uncertain significance (Sep 27, 2022) | ||
16-67978318-T-A | not specified | Uncertain significance (Oct 06, 2024) | ||
16-67978327-C-T | not specified | Uncertain significance (Oct 01, 2024) | ||
16-67978376-T-G | not specified | Uncertain significance (Aug 20, 2024) | ||
16-67978378-A-G | not specified | Uncertain significance (Jan 16, 2024) | ||
16-67978545-G-A | not specified | Uncertain significance (Dec 20, 2022) | ||
16-67978554-G-A | not specified | Uncertain significance (May 13, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DPEP3 | protein_coding | protein_coding | ENST00000268793 | 10 | 5167 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.27e-10 | 0.219 | 125699 | 0 | 47 | 125746 | 0.000187 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.01 | 263 | 314 | 0.839 | 0.0000201 | 3247 |
Missense in Polyphen | 87 | 102 | 0.85291 | 1142 | ||
Synonymous | 0.268 | 134 | 138 | 0.971 | 0.00000902 | 1133 |
Loss of Function | 0.646 | 16 | 19.0 | 0.840 | 9.52e-7 | 211 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000362 | 0.000362 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000652 | 0.000653 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000132 | 0.000132 |
Middle Eastern | 0.000652 | 0.000653 |
South Asian | 0.000393 | 0.000392 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Probable metalloprotease which hydrolyzes cystinyl-bis- glycine. May be involved in meiosis (By similarity). {ECO:0000250}.;
- Pathway
- Busulfan Pathway, Pharmacodynamics;Metabolism of lipids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Biological oxidations;Metabolism;Fatty acid metabolism;Aflatoxin activation and detoxification
(Consensus)
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- 0.608
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.61
Haploinsufficiency Scores
- pHI
- 0.0501
- hipred
- N
- hipred_score
- 0.172
- ghis
- 0.422
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.543
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dpep3
- Phenotype
Gene ontology
- Biological process
- proteolysis;male meiotic nuclear division
- Cellular component
- acrosomal vesicle;plasma membrane;anchored component of membrane
- Molecular function
- metalloexopeptidase activity;dipeptidyl-peptidase activity;dipeptidase activity;metal ion binding