RAB27A
Basic information
Region (hg38): 15:55202966-55319113
Links
Phenotypes
GenCC
Source:
- Griscelli syndrome type 2 (Strong), mode of inheritance: AR
- Griscelli syndrome type 2 (Supportive), mode of inheritance: AR
- Griscelli syndrome type 2 (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Griscelli syndrome, type 2; Elejalde syndrome | AR | Allergy/Immunology/Infectious; Oncologic | Antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial; Surveillance for complications such as hemophagocytic lymphohistiocytosis to allow early medical treatment (with chemo-immunotherapy) may be beneficial in order to allow prompt medical treatment; HSCT has been described | Allergy/Immunology/Infectious; Dermatologic; Hematologic; Neurologic; Oncologic | 707528; 7996360; 10835631; 12058346; 15452859; 17151879; 18350256; 18350256; 18397837; 18489042; 19030707; 19270433; 19953648; 20370853; 20591709; 21314004; 22111599; 23403622; 32374962 |
ClinVar
This is a list of variants' phenotypes submitted to
- Griscelli syndrome type 2 (24 variants)
- not provided (3 variants)
- RAB27A-related disorder (2 variants)
- Autoinflammatory syndrome (2 variants)
- Multisystem inflammatory syndrome in children (1 variants)
- Griscelli syndrome (1 variants)
- Inborn genetic diseases (1 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB27A 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 | 35 | 37 | ||||
missense | 68 | 80 | ||||
nonsense | 5 | |||||
start loss | 0 | |||||
frameshift | 12 | 18 | ||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 5 | |||||
splice region | 1 | 1 | 6 | 12 | 20 | |
non coding | 53 | 26 | 29 | 108 | ||
Total | 23 | 16 | 124 | 62 | 30 |
Highest pathogenic variant AF is 0.0000592
Variants in RAB27A
This is a list of pathogenic ClinVar variants found in the RAB27A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-55203092-A-G | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) | ||
15-55203158-T-C | Griscelli syndrome type 2 | Benign (Jan 13, 2018) | ||
15-55203164-C-G | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203173-G-T | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203259-CTTATTTT-C | Griscelli syndrome | Uncertain significance (Jun 14, 2016) | ||
15-55203291-T-C | Griscelli syndrome type 2 | Likely benign (Jan 12, 2018) | ||
15-55203347-T-C | Griscelli syndrome type 2 | Likely benign (Jan 13, 2018) | ||
15-55203372-G-T | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203440-G-C | Griscelli syndrome type 2 | Benign (Jan 12, 2018) | ||
15-55203476-G-A | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203500-C-T | Griscelli syndrome type 2 | Benign (Jan 13, 2018) | ||
15-55203576-A-G | Griscelli syndrome type 2 | Benign (Jan 12, 2018) | ||
15-55203581-A-T | Griscelli syndrome type 2 | Benign (Jan 13, 2018) | ||
15-55203584-T-TTTA | Griscelli syndrome | Uncertain significance (Jun 14, 2016) | ||
15-55203587-TTTTTT-ATTTATTTA | Griscelli syndrome | Uncertain significance (Jun 14, 2016) | ||
15-55203588-T-A | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203592-T-A | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203603-T-A | Griscelli syndrome type 2 | Uncertain significance (Jan 12, 2018) | ||
15-55203629-A-G | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) | ||
15-55203644-G-A | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) | ||
15-55203644-G-C | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) | ||
15-55203665-G-A | Griscelli syndrome type 2 | Uncertain significance (Apr 27, 2017) | ||
15-55203765-T-C | Griscelli syndrome type 2 | Benign (Jan 12, 2018) | ||
15-55203829-A-T | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) | ||
15-55203835-A-G | Griscelli syndrome type 2 | Uncertain significance (Jan 13, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RAB27A | protein_coding | protein_coding | ENST00000396307 | 5 | 116148 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.00e-7 | 0.183 | 125686 | 0 | 62 | 125748 | 0.000247 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.515 | 135 | 119 | 1.13 | 0.00000610 | 1464 |
Missense in Polyphen | 56 | 53.5 | 1.0467 | 670 | ||
Synonymous | 0.766 | 37 | 43.4 | 0.852 | 0.00000230 | 407 |
Loss of Function | 0.00696 | 10 | 10.0 | 0.998 | 5.10e-7 | 120 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000376 | 0.000376 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000291 | 0.000290 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.000261 | 0.000261 |
Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. {ECO:0000269|PubMed:18812475}.;
- Pathway
- Deregulation of Rab and Rab Effector Genes in Bladder Cancer;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
- 0.390
Intolerance Scores
- loftool
- 0.719
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.722
- hipred
- Y
- hipred_score
- 0.579
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.139
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab27a
- Phenotype
- cellular phenotype; homeostasis/metabolism 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); growth/size/body region phenotype; hematopoietic system phenotype; endocrine/exocrine gland phenotype; pigmentation 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); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- protein targeting;intracellular protein transport;exocytosis;blood coagulation;positive regulation of gene expression;antigen processing and presentation;melanocyte differentiation;melanosome localization;melanosome transport;Rab protein signal transduction;multivesicular body organization;neutrophil degranulation;cytotoxic T cell degranulation;natural killer cell degranulation;positive regulation of exocytosis;synaptic vesicle transport;positive regulation of phagocytosis;multivesicular body sorting pathway;complement-dependent cytotoxicity;positive regulation of regulated secretory pathway;positive regulation of reactive oxygen species biosynthetic process;positive regulation of constitutive secretory pathway;exosomal secretion
- Cellular component
- photoreceptor outer segment;extracellular region;lysosome;late endosome;Golgi apparatus;cytosol;apical plasma membrane;secretory granule;dendrite;secretory granule membrane;multivesicular body membrane;Weibel-Palade body;melanosome membrane;specific granule lumen;melanosome;synapse;extracellular exosome;exocytic vesicle
- Molecular function
- GTPase activity;protein binding;GTP binding;GDP binding;protein domain specific binding;myosin V binding