ARL8B

ADP ribosylation factor like GTPase 8B, the group of ARF GTPase family

Basic information

Region (hg38): 3:5122248-5180911

Previous symbols: [ "ARL10C" ]

Links

ENSG00000134108 ∙ NCBI:55207 ∙ OMIM:616596 ∙ HGNC:25564 ∙ Uniprot:Q9NVJ2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARL8B gene.

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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	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: gnomAD

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: dbNSFP

• 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