ARL10

ADP ribosylation factor like GTPase 10, the group of ARF GTPase family|MicroRNA protein coding host genes

Basic information

Region (hg38): 5:176365487-176401865

Previous symbols: [ "ARL10A" ]

Links

ENSG00000175414 ∙ NCBI:285598 ∙ ∙ HGNC:22042 ∙ Uniprot:Q8N8L6 ∙ 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 ARL10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL10 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in ARL10

This is a list of pathogenic ClinVar variants found in the ARL10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-176365588-T-G		not specified	Uncertain significance (Dec 01, 2022)
5-176365648-A-G		not specified	Uncertain significance (Jun 22, 2024)
5-176365688-G-C		not specified	Uncertain significance (Sep 17, 2021)
5-176365691-G-A		not specified	Uncertain significance (Jun 13, 2024)
5-176365695-G-C		not specified	Uncertain significance (Sep 12, 2023)
5-176365720-C-T		not specified	Uncertain significance (May 16, 2024)
5-176366405-C-T		not specified	Uncertain significance (Jul 25, 2023)
5-176366434-G-A		not specified	Uncertain significance (Nov 07, 2023)
5-176366440-G-A		not specified	Uncertain significance (Feb 13, 2024)
5-176366474-T-G		not specified	Uncertain significance (Nov 15, 2021)
5-176366563-G-C		not specified	Uncertain significance (Nov 21, 2022)
5-176368807-T-C		not specified	Uncertain significance (Jan 29, 2024)
5-176368834-A-G		not specified	Uncertain significance (Jun 28, 2022)
5-176368854-G-A		not specified	Uncertain significance (Jul 13, 2021)
5-176368962-G-A		not specified	Uncertain significance (Sep 14, 2023)
5-176371738-T-G		not specified	Uncertain significance (Jul 19, 2023)
5-176371782-G-A		not specified	Uncertain significance (May 15, 2024)
5-176371818-A-G		not specified	Uncertain significance (Nov 21, 2022)
5-176384248-T-G		not specified	Uncertain significance (Mar 05, 2024)
5-176384260-A-C		not specified	Uncertain significance (Oct 05, 2023)
5-176384262-G-T		not specified	Uncertain significance (Feb 05, 2024)
5-176384323-G-A		not specified	Uncertain significance (May 03, 2023)
5-176384329-G-C		not specified	Uncertain significance (Jan 06, 2023)
5-176384361-T-C		not specified	Uncertain significance (Dec 06, 2021)
5-176384364-C-T		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARL10	protein_coding	protein_coding	ENST00000310389	4	36396

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000822	0.797	125725	0	18	125743	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.983	94	125	0.752	0.00000781	1519
Missense in Polyphen		39	56.413	0.69133		628
Synonymous	-0.808	67	59.1	1.13	0.00000372	519
Loss of Function	1.08	6	9.62	0.624	5.87e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000157	0.000139
European (Non-Finnish)	0.0000709	0.0000703
Middle Eastern	0.000218	0.000217
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: miR-targeted genes in lymphocytes - TarBase (Consensus)

Intolerance Scores

• loftool: 0.512
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.341
• hipred: N
• hipred_score: 0.375
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.148

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Arl10
• Phenotype: skeleton phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Molecular function: GTP binding