ARL8B
Basic information
Region (hg38): 3:5122249-5180911
Previous symbols: [ "ARL10C" ]
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 ARL8B 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 | 1 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 |
Variants in ARL8B
This is a list of pathogenic ClinVar variants found in the ARL8B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-5122538-C-A | not specified | Uncertain significance (Nov 14, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ARL8B | protein_coding | protein_coding | ENST00000256496 | 7 | 58692 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.130 | 0.866 | 125706 | 0 | 8 | 125714 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.50 | 32 | 104 | 0.309 | 0.00000507 | 1219 |
| Missense in Polyphen | 6 | 35.935 | 0.16697 | 425 | ||
| Synonymous | -0.519 | 39 | 35.1 | 1.11 | 0.00000162 | 339 |
| Loss of Function | 2.49 | 4 | 14.1 | 0.284 | 8.36e-7 | 144 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000116 | 0.000116 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000328 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May play a role in lysosome motility (PubMed:16537643, PubMed:25898167). May play a role in chromosome segregation (PubMed:15331635). {ECO:0000269|PubMed:15331635, ECO:0000269|PubMed:16537643, ECO:0000269|PubMed:25898167}.;
Recessive Scores
- pRec
- 0.156
Intolerance Scores
- loftool
- 0.408
- rvis_EVS
- 0.28
- rvis_percentile_EVS
- 70.87
Haploinsufficiency Scores
- pHI
- 0.333
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.408
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.731
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Arl8b
- Phenotype
- skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- cell cycle;chromosome segregation;lysosome localization;cell division
- Cellular component
- cytoplasm;lysosomal membrane;vacuolar membrane;membrane;midbody;late endosome membrane;spindle midzone;extracellular exosome
- Molecular function
- GTPase activity;protein binding;GTP binding;GDP binding;alpha-tubulin binding;beta-tubulin binding