AEN

apoptosis enhancing nuclease, the group of Exonucleases|MicroRNA protein coding host genes

Basic information

Region (hg38): 15:88621337-88632281

Previous symbols: [ "ISG20L1" ]

Links

ENSG00000181026 ∙ NCBI:64782 ∙ OMIM:610177 ∙ HGNC:25722 ∙ Uniprot:Q8WTP8 ∙ 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 AEN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AEN 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			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in AEN

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

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

Position	Type	Phenotype	Significance	ClinVar
15-88626237-G-T		not specified	Uncertain significance (Nov 23, 2021)
15-88626258-C-T		not specified	Likely benign (Mar 19, 2024)
15-88626289-G-A		not specified	Uncertain significance (Mar 02, 2023)
15-88626294-A-G		not specified	Uncertain significance (Nov 24, 2024)
15-88626324-C-T		not specified	Uncertain significance (Aug 02, 2021)
15-88626325-G-A		not specified	Uncertain significance (May 24, 2023)
15-88626337-G-A		not specified	Uncertain significance (Oct 29, 2024)
15-88626342-G-T		not specified	Uncertain significance (Jun 18, 2021)
15-88626396-C-T		not specified	Uncertain significance (Apr 09, 2024)
15-88626433-A-T		not specified	Uncertain significance (Jun 21, 2022)
15-88626459-C-G		not specified	Uncertain significance (Aug 19, 2024)
15-88626460-T-C		not specified	Likely benign (Aug 19, 2024)
15-88626498-C-T		not specified	Uncertain significance (May 26, 2023)
15-88626511-A-C		not specified	Uncertain significance (Nov 09, 2024)
15-88626540-G-C		not specified	Uncertain significance (Oct 09, 2024)
15-88626541-T-C		not specified	Uncertain significance (Mar 26, 2024)
15-88626573-C-T		not specified	Uncertain significance (Oct 06, 2021)
15-88626591-G-A		not specified	Uncertain significance (Oct 21, 2024)
15-88626600-C-T		not specified	Uncertain significance (Aug 02, 2021)
15-88626601-G-A		not specified	Uncertain significance (Dec 05, 2024)
15-88626648-A-C		not specified	Uncertain significance (Mar 29, 2022)
15-88626660-A-T		not specified	Uncertain significance (Jan 24, 2024)
15-88626666-A-G		not specified	Uncertain significance (Aug 11, 2022)
15-88629227-T-C		not specified	Uncertain significance (Aug 27, 2024)
15-88629287-C-T		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AEN	protein_coding	protein_coding	ENST00000332810	3	10987

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.01e-10	0.0190	125646	0	102	125748	0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00464	206	206	1.00	0.0000130	2087
Missense in Polyphen		84	75.01	1.1198		747
Synonymous	-1.53	100	82.3	1.21	0.00000496	667
Loss of Function	-0.959	13	9.77	1.33	5.87e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00111	0.00111
Ashkenazi Jewish	0.00278	0.00278
East Asian	0.000710	0.000707
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000710	0.000707
South Asian	0.000556	0.000555
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exonuclease with activity against single- and double- stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis. {ECO:0000269|PubMed:16171785, ECO:0000269|PubMed:18264133}.
• Pathway: p73 transcription factor network;Validated transcriptional targets of TAp63 isoforms (Consensus)

Intolerance Scores

• loftool: 0.839
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.18

Haploinsufficiency Scores

• pHI: 0.206
• hipred: N
• hipred_score: 0.146
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.208

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aen

Gene ontology

• Biological process: response to ionizing radiation;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;nucleic acid phosphodiester bond hydrolysis
• Cellular component: nucleus;nucleoplasm;nucleolus;nuclear membrane
• Molecular function: nucleic acid binding;exonuclease activity;protein binding