ARL14

ADP ribosylation factor like GTPase 14, the group of ARF GTPase family

Basic information

Region (hg38): 3:160677160-160678448

Previous symbols: [ "ARF7" ]

Links

ENSG00000179674 ∙ NCBI:80117 ∙ OMIM:614439 ∙ HGNC:22974 ∙ Uniprot:Q8N4G2 ∙ 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 ARL14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL14 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				1		1
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in ARL14

This is a list of pathogenic ClinVar variants found in the ARL14 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-160677354-C-T		not specified	Likely benign (Oct 12, 2021)
3-160677399-T-G		not specified	Uncertain significance (Dec 04, 2023)
3-160677471-T-A		not specified	Uncertain significance (Dec 14, 2021)
3-160677477-C-T		not specified	Uncertain significance (May 05, 2023)
3-160677487-C-A		not specified	Uncertain significance (Dec 19, 2022)
3-160677503-G-A		not specified	Uncertain significance (Dec 26, 2023)
3-160677514-G-C		not specified	Uncertain significance (Sep 21, 2023)
3-160677683-A-G		not specified	Uncertain significance (Jul 11, 2023)
3-160677728-C-T		not specified	Uncertain significance (Jan 18, 2022)
3-160677741-C-T		not specified	Uncertain significance (Jan 04, 2022)
3-160677756-C-G		not specified	Uncertain significance (Mar 20, 2023)
3-160677779-C-A		not specified	Uncertain significance (Sep 12, 2023)
3-160677791-C-G		not specified	Uncertain significance (Apr 09, 2024)
3-160677791-C-T		not specified	Uncertain significance (Feb 23, 2023)
3-160677828-G-A		not specified	Uncertain significance (May 30, 2022)
3-160677830-G-A		not specified	Uncertain significance (May 25, 2022)
3-160677846-G-T		not specified	Uncertain significance (Jun 06, 2023)
3-160677877-C-T			Likely benign (Sep 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARL14	protein_coding	protein_coding	ENST00000320767	1	1286

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000124	0.117	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.11	132	101	1.31	0.00000488	1255
Missense in Polyphen		51	39.34	1.2964		501
Synonymous	0.127	39	40.0	0.974	0.00000214	373
Loss of Function	-0.678	8	6.18	1.29	3.46e-7	70

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: GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. {ECO:0000269|PubMed:21458045}.

Recessive Scores

• pRec: 0.0898

Intolerance Scores

• loftool: 0.695
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.23

Haploinsufficiency Scores

• pHI: 0.481
• hipred: N
• hipred_score: 0.190

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.138

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arl14

Gene ontology

• Biological process: intracellular protein transport;vesicle-mediated transport
• Cellular component: cytoplasm;plasma membrane;cytoplasmic vesicle
• Molecular function: protein binding;GTP binding