RAB24
Basic information
Region (hg38): 5:177301198-177303744
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 RAB24 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 | 3 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 0 | 0 |
Variants in RAB24
This is a list of pathogenic ClinVar variants found in the RAB24 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-177301801-T-C | not specified | Uncertain significance (Jan 23, 2024) | ||
| 5-177301955-C-T | not specified | Uncertain significance (Sep 27, 2022) | ||
| 5-177301986-G-C | not specified | Uncertain significance (Jul 14, 2024) | ||
| 5-177302411-T-C | not specified | Uncertain significance (Nov 09, 2024) | ||
| 5-177302445-G-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 5-177302584-A-G | not specified | Uncertain significance (Dec 10, 2024) | ||
| 5-177302603-C-G | not specified | Uncertain significance (Jun 11, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAB24 | protein_coding | protein_coding | ENST00000303251 | 8 | 2547 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.150 | 0.847 | 125740 | 0 | 8 | 125748 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.71 | 71 | 125 | 0.570 | 0.00000697 | 1340 |
| Missense in Polyphen | 8 | 40.763 | 0.19626 | 462 | ||
| Synonymous | -0.607 | 50 | 44.8 | 1.12 | 0.00000244 | 376 |
| Loss of Function | 2.56 | 4 | 14.6 | 0.275 | 7.84e-7 | 154 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000905 | 0.0000905 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000949 | 0.0000924 |
| European (Non-Finnish) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in autophagy-related processes. {ECO:0000250}.;
- Pathway
- Neutrophil degranulation;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;RAB geranylgeranylation
(Consensus)
Intolerance Scores
- loftool
- 0.551
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.102
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.557
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.926
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Rab24
- Phenotype
- growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- intracellular protein transport;autophagy;Rab protein signal transduction;neutrophil degranulation
- Cellular component
- endosome;autophagosome;cytosol;plasma membrane;endocytic vesicle;secretory granule membrane
- Molecular function
- GTPase activity;protein binding;GTP binding