RAB27B
RAB27B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases
Basic information
Region (hg38): 18:54717860-54895516
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 RAB27B 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 1 | 0 |
Variants in RAB27B
This is a list of pathogenic ClinVar variants found in the RAB27B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-54887998-A-G | not specified | Uncertain significance (Aug 28, 2023) | ||
| 18-54888093-G-A | not specified | Uncertain significance (Apr 22, 2022) | ||
| 18-54888097-G-T | not specified | Uncertain significance (Mar 23, 2022) | ||
| 18-54888110-C-A | not specified | Likely benign (Sep 16, 2021) | ||
| 18-54888117-G-A | not specified | Uncertain significance (May 16, 2023) | ||
| 18-54889252-A-G | not specified | Uncertain significance (Jun 23, 2021) | ||
| 18-54889330-A-G | not specified | Uncertain significance (Nov 30, 2021) | ||
| 18-54889339-C-T | not specified | Uncertain significance (May 08, 2023) | ||
| 18-54889387-C-G | not specified | Uncertain significance (Apr 15, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAB27B | protein_coding | protein_coding | ENST00000262094 | 5 | 177657 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0387 | 0.933 | 125714 | 0 | 12 | 125726 | 0.0000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.176 | 115 | 120 | 0.955 | 0.00000644 | 1432 |
| Missense in Polyphen | 44 | 54.717 | 0.80414 | 650 | ||
| Synonymous | -2.05 | 60 | 42.9 | 1.40 | 0.00000223 | 404 |
| Loss of Function | 1.89 | 4 | 10.7 | 0.374 | 5.34e-7 | 130 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000292 | 0.0000292 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000530 | 0.0000528 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.0000654 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the associaton of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity). {ECO:0000250|UniProtKB:Q8HZJ5, ECO:0000269|PubMed:21775604}.;
- Pathway
- Pancreatic secretion - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Deregulation of Rab and Rab Effector Genes in Bladder Cancer;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation
(Consensus)
Recessive Scores
- pRec
- 0.153
Intolerance Scores
- loftool
- 0.379
- rvis_EVS
- 0.24
- rvis_percentile_EVS
- 68.98
Haploinsufficiency Scores
- pHI
- 0.278
- hipred
- Y
- hipred_score
- 0.616
- ghis
- 0.466
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab27b
- Phenotype
- endocrine/exocrine gland 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); homeostasis/metabolism phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); pigmentation phenotype; reproductive system phenotype; normal phenotype; hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- platelet degranulation;intracellular protein transport;melanosome transport;Rab protein signal transduction;positive regulation of exocytosis;synaptic vesicle endocytosis;multivesicular body sorting pathway;anterograde axonal protein transport
- Cellular component
- Golgi apparatus;Golgi stack;plasma membrane;apical plasma membrane;trans-Golgi network transport vesicle;secretory granule;platelet dense granule membrane;multivesicular body membrane;melanosome;zymogen granule membrane;extracellular exosome;anchored component of synaptic vesicle membrane;axon cytoplasm
- Molecular function
- GTPase activity;protein binding;GTP binding;GDP binding;protein domain specific binding;myosin V binding