DEPDC4

DEP domain containing 4

Basic information

Region (hg38): 12:100203669-100267079

Links

ENSG00000166153NCBI:120863HGNC:22952Uniprot:Q8N2C3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DEPDC4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEPDC4 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
0
missense
15
clinvar
1
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 15 1 0

Variants in DEPDC4

This is a list of pathogenic ClinVar variants found in the DEPDC4 region.

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

Position Type Phenotype Significance ClinVar
12-100210112-C-T not specified Uncertain significance (Aug 02, 2021)2300970
12-100212295-A-C not specified Uncertain significance (Jan 10, 2023)2474698
12-100212470-C-G not specified Uncertain significance (Mar 31, 2023)2532153
12-100212470-C-T not specified Uncertain significance (Feb 28, 2024)3142617
12-100218493-G-A not specified Uncertain significance (Aug 17, 2022)2307874
12-100218497-C-T not specified Uncertain significance (Apr 05, 2023)2514205
12-100220016-C-G not specified Uncertain significance (Jan 02, 2024)3142622
12-100220077-A-T not specified Uncertain significance (Oct 10, 2023)3142625
12-100220079-C-T not specified Uncertain significance (Aug 02, 2021)2389115
12-100220080-G-A not specified Uncertain significance (Nov 03, 2022)2222952
12-100223786-C-A not specified Uncertain significance (Dec 13, 2022)2380177
12-100262288-G-T not specified Uncertain significance (Jul 09, 2021)2396932
12-100262353-A-G not specified Uncertain significance (Dec 27, 2023)3081743
12-100262365-C-A not specified Uncertain significance (Dec 19, 2022)2337064
12-100262377-G-A not specified Uncertain significance (May 23, 2023)2517242
12-100263633-T-C not specified Uncertain significance (Oct 04, 2022)2316909
12-100263637-C-A not specified Uncertain significance (Sep 17, 2021)2251923
12-100263676-T-G not specified Uncertain significance (Aug 26, 2022)2308999
12-100263696-T-C not specified Uncertain significance (May 22, 2023)2549496
12-100263737-A-C not specified Uncertain significance (Jan 30, 2024)3081741
12-100263789-T-C not specified Likely benign (Nov 19, 2022)2328451
12-100263857-T-G not specified Uncertain significance (Nov 09, 2021)2363736
12-100263882-G-T not specified Uncertain significance (Mar 31, 2024)3271630
12-100266923-T-C not specified Uncertain significance (Nov 15, 2021)2260851
12-100266992-G-A not specified Uncertain significance (Apr 13, 2022)2228351

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DEPDC4protein_codingprotein_codingENST00000416321 563411
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.01e-90.0486109272081092800.0000366
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3371641521.080.000006901952
Missense in Polyphen4032.9461.2141497
Synonymous-0.3335854.91.060.00000264542
Loss of Function-0.3901311.61.124.86e-7158

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00007280.0000728
Ashkenazi Jewish0.000.00
East Asian0.0001740.000174
Finnish0.00005080.0000507
European (Non-Finnish)0.00001960.0000196
Middle Eastern0.0001740.000174
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.801
rvis_EVS
-0.18
rvis_percentile_EVS
40.16

Haploinsufficiency Scores

pHI
0.0975
hipred
N
hipred_score
0.144
ghis
0.403

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.335

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
intracellular signal transduction
Cellular component
Molecular function