ARRDC4
Basic information
Region (hg38): 15:97960702-97973833
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 ARRDC4 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 | 21 | 23 | ||||
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 | 21 | 0 | 3 |
Variants in ARRDC4
This is a list of pathogenic ClinVar variants found in the ARRDC4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-97960922-G-C | not specified | Uncertain significance (Apr 20, 2024) | ||
15-97960956-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
15-97961031-T-A | not specified | Uncertain significance (May 23, 2023) | ||
15-97961043-G-A | not specified | Uncertain significance (Jul 12, 2022) | ||
15-97961061-G-C | not specified | Uncertain significance (Dec 17, 2023) | ||
15-97961088-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
15-97961092-C-T | Benign (May 11, 2021) | |||
15-97961094-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
15-97961096-A-G | Benign (May 11, 2021) | |||
15-97965612-T-C | not specified | Uncertain significance (Jun 03, 2024) | ||
15-97965612-T-G | not specified | Uncertain significance (Aug 02, 2021) | ||
15-97965937-G-C | Benign (Nov 03, 2018) | |||
15-97965944-G-A | not specified | Uncertain significance (Oct 12, 2021) | ||
15-97965959-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
15-97965979-T-A | not specified | Uncertain significance (Aug 09, 2021) | ||
15-97966020-A-T | not specified | Uncertain significance (Jun 04, 2024) | ||
15-97969132-T-C | not specified | Uncertain significance (Sep 22, 2022) | ||
15-97969245-A-G | not specified | Uncertain significance (Feb 06, 2024) | ||
15-97969251-G-A | not specified | Uncertain significance (Jan 23, 2023) | ||
15-97969255-A-G | not specified | Uncertain significance (Nov 10, 2022) | ||
15-97969282-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
15-97969290-G-C | not specified | Uncertain significance (Mar 24, 2023) | ||
15-97969350-T-C | not specified | Uncertain significance (Jul 05, 2023) | ||
15-97969377-G-T | not specified | Uncertain significance (Apr 04, 2024) | ||
15-97969878-A-T | Likely benign (Jan 08, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ARRDC4 | protein_coding | protein_coding | ENST00000268042 | 8 | 54285 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.71e-7 | 0.658 | 125687 | 0 | 60 | 125747 | 0.000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.617 | 177 | 202 | 0.878 | 0.0000104 | 2625 |
Missense in Polyphen | 60 | 87.835 | 0.6831 | 1011 | ||
Synonymous | -0.593 | 84 | 77.4 | 1.09 | 0.00000423 | 839 |
Loss of Function | 1.15 | 13 | 18.3 | 0.709 | 0.00000102 | 230 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00196 | 0.00196 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000218 | 0.000217 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000132 | 0.000132 |
Middle Eastern | 0.000218 | 0.000217 |
South Asian | 0.0000668 | 0.0000653 |
Other | 0.000652 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism plays also a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364). {ECO:0000250|UniProtKB:A0A0B4J1F4, ECO:0000269|PubMed:19605364, ECO:0000305}.;
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.717
- rvis_EVS
- 0.46
- rvis_percentile_EVS
- 78.59
Haploinsufficiency Scores
- pHI
- 0.612
- hipred
- N
- hipred_score
- 0.394
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.977
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Arrdc4
- Phenotype
- cellular phenotype;
Gene ontology
- Biological process
- protein transport;protein ubiquitination;positive regulation of ubiquitin-protein transferase activity;extracellular vesicle biogenesis
- Cellular component
- endosome;early endosome;plasma membrane;extracellular vesicle
- Molecular function
- protein binding;protein binding, bridging involved in substrate recognition for ubiquitination