ARL17B

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

Basic information

Region (hg38): 17:46274184-46361766

Previous symbols: [ "ARL17" ]

Links

ENSG00000228696 ∙ NCBI:100506084 ∙ ∙ HGNC:32387 ∙ 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 ARL17B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL17B 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			28	6		34
Total	0	0	30	6	0

Variants in ARL17B

This is a list of pathogenic ClinVar variants found in the ARL17B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-46295307-G-C		not specified	Uncertain significance (Apr 13, 2022)
17-46297246-A-G		not specified	Uncertain significance (Jan 24, 2023)
17-46297258-C-G		not specified	Uncertain significance (Apr 04, 2024)
17-46297291-C-T		not specified	Uncertain significance (Feb 23, 2023)
17-46297322-A-T		not specified	Uncertain significance (Sep 14, 2022)
17-46297344-A-G		not specified	Benign (Mar 29, 2016)
17-46297432-A-G		not specified	Uncertain significance (Mar 08, 2024)
17-46297453-G-A		not specified	Uncertain significance (Apr 28, 2022)
17-46297456-C-T		not specified	Uncertain significance (Jan 20, 2023)
17-46297468-C-T		not specified	Uncertain significance (Jul 06, 2021)
17-46297471-G-C		not specified	Likely benign (Dec 21, 2023)
17-46297478-C-G		not specified	Uncertain significance (Jun 10, 2024)
17-46297493-T-C		not specified	Uncertain significance (Jul 27, 2021)
17-46297514-C-T		not specified	Uncertain significance (Jun 13, 2024)
17-46297520-A-T		not specified	Uncertain significance (Nov 29, 2023)
17-46297529-C-G		not specified	Uncertain significance (Aug 08, 2022)
17-46297531-G-A		not specified	Likely benign (Jan 03, 2024)
17-46297604-C-T		not specified	Uncertain significance (Nov 21, 2022)
17-46297613-G-A		not specified	Likely benign (Jun 30, 2022)
17-46297705-C-T		not specified	Likely benign (Oct 26, 2021)
17-46305526-A-T		not specified	Uncertain significance (Dec 28, 2022)
17-46305558-C-T		not specified	Likely benign (Nov 09, 2021)
17-46322332-C-A		not specified	Uncertain significance (May 08, 2023)
17-46322338-C-A		not specified	Uncertain significance (Oct 05, 2021)
17-46322967-C-G		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARL17B	protein_coding	protein_coding	ENST00000450673	3	86981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.336	0.497	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.916	0	6.65	0.00	2.84e-7	1149
Missense in Polyphen		0	0.90474	0		159
Synonymous	1.20	0	2.34	0.00	1.26e-7	330
Loss of Function	0.656	0	0.500	0.00	2.14e-8	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
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: 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: 0.517

Essentials

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