ARL8A
Basic information
Region (hg38): 1:202133403-202144743
Previous symbols: [ "ARL10B" ]
Links
Phenotypes
GenCC
Source:
- Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown
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 ARL8A 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 | 2 | |||||
| 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 | 2 |
Variants in ARL8A
This is a list of pathogenic ClinVar variants found in the ARL8A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-202135195-C-G | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-202135202-C-T | Benign (Dec 31, 2019) | |||
| 1-202135488-T-C | Benign (May 08, 2018) | |||
| 1-202137966-C-T | not specified | Uncertain significance (May 24, 2023) | ||
| 1-202144567-G-C | not specified | Uncertain significance (Feb 02, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ARL8A | protein_coding | protein_coding | ENST00000272217 | 7 | 11338 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.942 | 0.0582 | 125589 | 0 | 1 | 125590 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.92 | 25 | 112 | 0.224 | 0.00000643 | 1220 |
| Missense in Polyphen | 6 | 47.199 | 0.12712 | 493 | ||
| Synonymous | 0.699 | 36 | 41.7 | 0.862 | 0.00000241 | 325 |
| Loss of Function | 3.14 | 1 | 13.4 | 0.0746 | 7.51e-7 | 137 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| 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 | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May play a role in lysosomes motility. Alternatively, may play a role in chromosome segregation (By similarity). {ECO:0000250}.;
- Pathway
- Neutrophil degranulation;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.0757
Intolerance Scores
- loftool
- 0.130
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.0854
- hipred
- Y
- hipred_score
- 0.572
- ghis
- 0.388
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.450
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Arl8a
- Phenotype
Gene ontology
- Biological process
- cell cycle;chromosome segregation;neutrophil degranulation;cell division
- Cellular component
- cytoplasm;lysosomal membrane;vacuolar membrane;plasma membrane;membrane;midbody;late endosome membrane;azurophil granule membrane;spindle midzone;extracellular exosome;ficolin-1-rich granule membrane
- Molecular function
- GTPase activity;protein binding;GTP binding;alpha-tubulin binding;beta-tubulin binding