RAB31
RAB31, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases
Basic information
Region (hg38): 18:9708274-9862551
Links
Phenotypes
GenCC
Source:
No genCC data.
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 RAB31 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 | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 6 | 0 | 1 |
Variants in RAB31
This is a list of pathogenic ClinVar variants found in the RAB31 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-9743053-T-G | Benign (Jan 18, 2019) | |||
| 18-9775339-A-G | not specified | Uncertain significance (Aug 29, 2023) | ||
| 18-9814071-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
| 18-9845628-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
| 18-9845634-G-A | not specified | Uncertain significance (Jun 04, 2024) | ||
| 18-9859231-G-T | not specified | Uncertain significance (Jul 14, 2022) | ||
| 18-9859266-A-G | not specified | Uncertain significance (Oct 05, 2023) | ||
| 18-9859301-G-C | not specified | Uncertain significance (Apr 28, 2022) | ||
| 18-9859312-G-A | not specified | Uncertain significance (Jan 26, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAB31 | protein_coding | protein_coding | ENST00000578921 | 7 | 154387 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00126 | 0.864 | 124635 | 0 | 9 | 124644 | 0.0000361 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.29 | 69 | 106 | 0.648 | 0.00000568 | 1261 |
| Missense in Polyphen | 12 | 32.532 | 0.36887 | 399 | ||
| Synonymous | 1.81 | 23 | 37.0 | 0.621 | 0.00000207 | 346 |
| Loss of Function | 1.30 | 6 | 10.5 | 0.569 | 5.10e-7 | 134 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000177 | 0.0000177 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000229 | 0.000229 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. {ECO:0000269|PubMed:17189207, ECO:0000269|PubMed:17678623, ECO:0000269|PubMed:19725050, ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:21586568}.;
- Pathway
- Endocytosis - Homo sapiens (human);Neutrophil degranulation;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation
(Consensus)
Recessive Scores
- pRec
- 0.109
Intolerance Scores
- loftool
- 0.580
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 0.0617
- hipred
- Y
- hipred_score
- 0.578
- ghis
- 0.568
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.181
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab31
- Phenotype
Gene ontology
- Biological process
- intracellular protein transport;receptor internalization;Rab protein signal transduction;cellular response to insulin stimulus;Golgi to plasma membrane protein transport;neutrophil degranulation;regulated exocytosis;phagosome maturation
- Cellular component
- early endosome;cytosol;plasma membrane;secretory granule membrane;phagocytic vesicle membrane;early endosome membrane;trans-Golgi network membrane;phagocytic vesicle
- Molecular function
- GTPase activity;GTP binding;GDP binding