ARL17A

ADP ribosylation factor like GTPase 17A, the group of ARF GTPase family

Basic information

Region (hg38): 17:46499779-46579695

Previous symbols: [ "ARF1P2", "ARL17P1" ]

Links

ENSG00000185829 ∙ NCBI:51326 ∙ ∙ HGNC:24096 ∙ Uniprot:Q8IVW1 ∙ 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 ARL17A gene.

• Inborn genetic diseases (51 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL17A 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			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			43	8		51
Total	0	0	44	8	0

Variants in ARL17A

This is a list of pathogenic ClinVar variants found in the ARL17A region.

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

Position	Type	Phenotype	Significance	ClinVar
17-46512741-T-C		not specified	Likely benign (Jan 17, 2024)
17-46512762-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-46512809-C-G		not specified	Uncertain significance (Jan 23, 2023)
17-46512917-C-T		not specified	Likely benign (Apr 13, 2023)
17-46512972-T-C		not specified	Uncertain significance (Nov 10, 2022)
17-46513017-C-T		not specified	Likely benign (Jul 25, 2023)
17-46513035-C-A		not specified	Uncertain significance (Aug 08, 2022)
17-46513160-C-G		not specified	Uncertain significance (May 25, 2022)
17-46513308-T-G		not specified	Uncertain significance (Dec 09, 2023)
17-46513311-G-A		not specified	Uncertain significance (Oct 05, 2021)
17-46513422-C-T		not specified	Likely benign (Jun 22, 2021)
17-46513452-C-T		not specified	Uncertain significance (Jun 30, 2022)
17-46514691-G-A		not specified	Likely benign (Jun 30, 2022)
17-46514949-C-T		not specified	Uncertain significance (May 17, 2023)
17-46514987-C-T		not specified	Uncertain significance (Mar 02, 2023)
17-46515039-G-A		not specified	Likely benign (Jan 17, 2024)
17-46515041-C-A		not specified	Uncertain significance (Feb 10, 2022)
17-46515178-C-G		not specified	Likely benign (Jul 21, 2021)
17-46517231-G-C		not specified	Uncertain significance (Jul 21, 2021)
17-46517428-G-C		not specified	Uncertain significance (Apr 18, 2023)
17-46538392-C-T			Uncertain significance (Jun 01, 2022)
17-46540856-A-C		not specified	Uncertain significance (Jan 23, 2024)
17-46540856-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-46546274-G-A		not specified	Uncertain significance (Nov 05, 2021)
17-46546292-T-C		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Biological process: protein transport;vesicle-mediated transport
• Cellular component: Golgi apparatus
• Molecular function: GTP binding