RAB33A
Basic information
Region (hg38): X:130171962-130184870
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 RAB33A 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 | 0 | |||||
Total | 0 | 0 | 6 | 0 | 0 |
Variants in RAB33A
This is a list of pathogenic ClinVar variants found in the RAB33A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-130172070-A-C | not specified | Uncertain significance (Jun 12, 2023) | ||
X-130172099-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
X-130172210-A-T | not specified | Uncertain significance (May 23, 2024) | ||
X-130184328-G-C | not specified | Uncertain significance (May 24, 2024) | ||
X-130184349-G-A | not specified | Uncertain significance (Apr 07, 2023) | ||
X-130184433-A-G | not specified | Uncertain significance (Mar 07, 2024) | ||
X-130184684-G-T | not specified | Uncertain significance (Sep 26, 2023) | ||
X-130184712-C-A | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RAB33A | protein_coding | protein_coding | ENST00000257017 | 2 | 13222 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.822 | 0.175 | 125692 | 1 | 0 | 125693 | 0.00000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.93 | 46 | 100 | 0.458 | 0.00000789 | 1563 |
Missense in Polyphen | 9 | 48.09 | 0.18715 | 702 | ||
Synonymous | 0.578 | 39 | 43.9 | 0.889 | 0.00000351 | 465 |
Loss of Function | 2.21 | 0 | 5.69 | 0.00 | 4.34e-7 | 86 |
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) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000524 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Vesicle-mediated transport;TBC/RABGAPs;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Rab regulation of trafficking;RAB geranylgeranylation
(Consensus)
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 62.74
Haploinsufficiency Scores
- pHI
- 0.115
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.487
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.213
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab33a
- Phenotype
Gene ontology
- Biological process
- intracellular protein transport;endoplasmic reticulum to Golgi vesicle-mediated transport;antigen processing and presentation;Rab protein signal transduction
- Cellular component
- Golgi membrane;endoplasmic reticulum membrane;plasma membrane
- Molecular function
- GTPase activity;protein binding;GTP binding