AREL1

apoptosis resistant E3 ubiquitin protein ligase 1, the group of HECT domain containing

Basic information

Region (hg38): 14:74653437-74713117

Previous symbols: [ "KIAA0317" ]

Links

ENSG00000119682 ∙ NCBI:9870 ∙ OMIM:615380 ∙ HGNC:20363 ∙ Uniprot:O15033 ∙ 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 AREL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AREL1 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			69			69
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	69	1	0

Variants in AREL1

This is a list of pathogenic ClinVar variants found in the AREL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-74663740-C-G		not specified	Uncertain significance (Feb 13, 2025)
14-74663920-G-A		not specified	Uncertain significance (Jun 13, 2022)
14-74663998-C-G		not specified	Uncertain significance (Aug 27, 2024)
14-74664020-G-A		not specified	Uncertain significance (Nov 10, 2022)
14-74664924-A-G		not specified	Uncertain significance (Jan 24, 2025)
14-74667522-G-T		not specified	Uncertain significance (Mar 17, 2023)
14-74667548-G-A		not specified	Uncertain significance (Mar 31, 2023)
14-74667569-G-A		not specified	Uncertain significance (Sep 20, 2023)
14-74669653-T-G		not specified	Uncertain significance (Oct 17, 2023)
14-74669738-T-C		not specified	Uncertain significance (Jul 20, 2022)
14-74669949-T-C		not specified	Uncertain significance (Jan 26, 2025)
14-74669954-T-C		not specified	Uncertain significance (Nov 07, 2022)
14-74669975-T-C		not specified	Uncertain significance (Mar 25, 2022)
14-74669978-G-C		not specified	Uncertain significance (Dec 04, 2024)
14-74669999-C-T		not specified	Uncertain significance (Oct 05, 2022)
14-74670056-C-A		not specified	Uncertain significance (May 03, 2023)
14-74670057-C-G		not specified	Uncertain significance (May 03, 2023)
14-74670065-C-T		not specified	Uncertain significance (Nov 17, 2022)
14-74670093-G-A		not specified	Uncertain significance (Jan 18, 2023)
14-74670809-T-C		not specified	Uncertain significance (Oct 06, 2022)
14-74670830-T-G		not specified	Uncertain significance (Jan 30, 2024)
14-74670850-C-T		not specified	Uncertain significance (Aug 02, 2021)
14-74670851-G-A		not specified	Uncertain significance (Nov 10, 2024)
14-74670863-A-C		not specified	Uncertain significance (Jan 16, 2024)
14-74671417-C-T		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AREL1	protein_coding	protein_coding	ENST00000356357	18	59679

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.91e-7	1.00	124789	0	43	124832	0.000172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.50	382	474	0.806	0.0000274	5392
Missense in Polyphen		131	184.07	0.7117		2068
Synonymous	-0.392	182	175	1.04	0.00000952	1595
Loss of Function	3.74	19	46.5	0.409	0.00000264	514

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000281	0.000280
Ashkenazi Jewish	0.0000996	0.0000993
East Asian	0.000112	0.000111
Finnish	0.000186	0.000186
European (Non-Finnish)	0.000249	0.000229
Middle Eastern	0.000112	0.000111
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation. {ECO:0000269|PubMed:23479728}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.124

Intolerance Scores

• rvis_EVS: -0.78
• rvis_percentile_EVS: 13.05

Haploinsufficiency Scores

• pHI: 0.244
• hipred: Y
• hipred_score: 0.639
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: 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: Arel1

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;apoptotic process;protein ubiquitination;negative regulation of apoptotic process;proteasome-mediated ubiquitin-dependent protein catabolic process;positive regulation of protein catabolic process
• Cellular component: cytoplasm;cytosol
• Molecular function: ubiquitin-protein transferase activity;ubiquitin protein ligase activity