DPEP3

dipeptidase 3, the group of M19 metallopeptidases

Basic information

Region (hg38): 16:67975663-67980549

Links

ENSG00000141096NCBI:64180OMIM:609926HGNC:23029Uniprot:Q9H4B8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DPEP3 gene.

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
clinvar
1
missense
24
clinvar
2
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
2
clinvar
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)2346531
16-67975862-T-C not specified Likely benign (Jun 02, 2023)2515745
16-67975917-C-T not specified Uncertain significance (Aug 02, 2023)2590633
16-67975961-T-A not specified Uncertain significance (Aug 09, 2021)2241519
16-67976141-T-G not specified Uncertain significance (Jun 13, 2022)2295155
16-67976166-C-T not specified Uncertain significance (Jun 07, 2023)2511221
16-67976167-G-A not specified Uncertain significance (Nov 18, 2022)2349451
16-67977296-A-G not specified Uncertain significance (Jun 24, 2022)2355991
16-67977312-C-A not specified Uncertain significance (Nov 10, 2024)3504851
16-67977336-C-T not specified Uncertain significance (Sep 26, 2022)2346968
16-67977338-A-T not specified Uncertain significance (Oct 12, 2021)2254743
16-67977349-C-A not specified Uncertain significance (Aug 02, 2022)2304955
16-67977735-G-C not specified Uncertain significance (Sep 27, 2021)2252480
16-67977771-T-C not specified Uncertain significance (Aug 10, 2021)2242782
16-67977799-T-C not specified Uncertain significance (Oct 12, 2024)3504850
16-67977943-C-G not specified Uncertain significance (Mar 23, 2022)2279425
16-67977958-C-T not specified Uncertain significance (Jan 23, 2023)2463872
16-67977982-G-A not specified Uncertain significance (Mar 24, 2023)2529450
16-67978268-A-G not specified Uncertain significance (Sep 27, 2022)2313796
16-67978318-T-A not specified Uncertain significance (Oct 06, 2024)3504842
16-67978327-C-T not specified Uncertain significance (Oct 01, 2024)3504844
16-67978376-T-G not specified Uncertain significance (Aug 20, 2024)3504846
16-67978378-A-G not specified Uncertain significance (Jan 16, 2024)3085438
16-67978545-G-A not specified Uncertain significance (Dec 20, 2022)2359867
16-67978554-G-A not specified Uncertain significance (May 13, 2024)3273571

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DPEP3protein_codingprotein_codingENST00000268793 105167
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.27e-100.2191256990471257460.000187
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.012633140.8390.00002013247
Missense in Polyphen871020.852911142
Synonymous0.2681341380.9710.000009021133
Loss of Function0.6461619.00.8409.52e-7211

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003620.000362
Ashkenazi Jewish0.000.00
East Asian0.0006520.000653
Finnish0.000.00
European (Non-Finnish)0.0001320.000132
Middle Eastern0.0006520.000653
South Asian0.0003930.000392
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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