ARL14EPL

ADP ribosylation factor like GTPase 14 effector protein like

Basic information

Region (hg38): 5:116032323-116060118

Links

ENSG00000268223 ∙ NCBI:644100 ∙ ∙ HGNC:44201 ∙ Uniprot:P0DKL9 ∙ 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 ARL14EPL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL14EPL 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	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	14	2	0

Variants in ARL14EPL

This is a list of pathogenic ClinVar variants found in the ARL14EPL region.

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

Position	Type	Phenotype	Significance	ClinVar
5-116051481-G-A		not specified	Uncertain significance (Jul 26, 2022)
5-116051497-T-C		not specified	Likely benign (Feb 06, 2023)
5-116051505-A-G		not specified	Likely benign (Mar 31, 2023)
5-116051538-T-A		not specified	Uncertain significance (Apr 08, 2024)
5-116054023-G-C		not specified	Uncertain significance (Jul 09, 2021)
5-116054024-A-G		not specified	Uncertain significance (Jun 06, 2023)
5-116054083-C-A		not specified	Uncertain significance (Jun 16, 2024)
5-116054109-A-T		not specified	Uncertain significance (Feb 17, 2022)
5-116054126-T-C		not specified	Uncertain significance (Jul 14, 2021)
5-116054129-A-G		not specified	Uncertain significance (Jun 26, 2023)
5-116058725-A-G		not specified	Likely benign (Aug 15, 2023)
5-116058744-A-G		not specified	Uncertain significance (Feb 28, 2024)
5-116058783-G-A		not specified	Uncertain significance (Feb 28, 2023)
5-116058841-A-G		not specified	Uncertain significance (Aug 29, 2022)
5-116058842-C-A		not specified	Uncertain significance (Sep 27, 2022)
5-116058857-G-C		not specified	Uncertain significance (Jul 13, 2021)
5-116058871-G-A		not specified	Uncertain significance (Feb 06, 2023)
5-116058922-C-T		not specified	Uncertain significance (Jan 23, 2024)
5-116058928-C-T		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARL14EPL	protein_coding	protein_coding	ENST00000601302	3	8653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0348	0.838	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.187	87	82.2	1.06	0.00000464	1011
Missense in Polyphen		28	29.092	0.96247		357
Synonymous	0.356	27	29.5	0.917	0.00000169	253
Loss of Function	1.21	3	6.27	0.478	3.23e-7	86

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

Haploinsufficiency Scores

• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arl14epl