AVEN

apoptosis and caspase activation inhibitor

Basic information

Region (hg38): 15:33858781-34075155

Links

ENSG00000169857 ∙ NCBI:57099 ∙ OMIM:605265 ∙ HGNC:13509 ∙ Uniprot:Q9NQS1 ∙ 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 AVEN gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AVEN 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			23
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	0	0

Variants in AVEN

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

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

Position	Type	Phenotype	Significance	ClinVar
15-33859581-C-G		Epileptic encephalopathy	Uncertain significance (Feb 02, 2022)
15-33859595-C-T		Epileptic encephalopathy • RYR3-related disorder	Likely benign (Aug 22, 2022)
15-33859609-C-T		Epileptic encephalopathy	Uncertain significance (Aug 13, 2017)
15-33859641-C-G		Epileptic encephalopathy	Uncertain significance (Nov 02, 2017)
15-33859650-G-C			Likely benign (Apr 24, 2018)
15-33859676-C-G		Epileptic encephalopathy	Likely benign (May 14, 2020)
15-33859694-C-G		Epileptic encephalopathy	Uncertain significance (Mar 19, 2019)
15-33859700-C-T		Epileptic encephalopathy	Benign (Jan 15, 2024)
15-33859712-C-T		Epileptic encephalopathy • RYR3-related disorder	Likely benign (Feb 02, 2023)
15-33859723-T-G		Epileptic encephalopathy	Uncertain significance (Sep 02, 2019)
15-33859735-T-C		Epileptic encephalopathy	Uncertain significance (Jun 28, 2019)
15-33860576-T-A		Epileptic encephalopathy	Benign (Jan 08, 2024)
15-33860614-C-T		Epileptic encephalopathy	Likely benign (May 04, 2023)
15-33860646-G-A		not specified	Uncertain significance (Jun 02, 2023)
15-33860648-G-C		Epileptic encephalopathy	Uncertain significance (Nov 29, 2022)
15-33860651-G-A		Epileptic encephalopathy	Uncertain significance (Jan 01, 2019)
15-33860669-C-T		Epileptic encephalopathy	Likely benign (Aug 10, 2022)
15-33860673-A-G		Epileptic encephalopathy	Benign (Jul 12, 2022)
15-33861083-A-G		Epileptic encephalopathy	Benign (Jun 13, 2020)
15-33861100-T-C		Epileptic encephalopathy	Uncertain significance (Jul 26, 2020)
15-33861110-C-G		Epileptic encephalopathy	Uncertain significance (Dec 30, 2019)
15-33861123-A-G		not specified	Uncertain significance (Aug 19, 2023)
15-33861129-C-T			not provided (-)
15-33861131-T-C		Epileptic encephalopathy	Likely benign (Apr 07, 2020)
15-33861156-G-C		Epileptic encephalopathy	Uncertain significance (Jun 09, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AVEN	protein_coding	protein_coding	ENST00000306730	6	172950

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.74e-9	0.160	125632	0	116	125748	0.000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.13	215	143	1.50	0.00000695	2271
Missense in Polyphen		81	61.378	1.3197		810
Synonymous	-0.808	63	55.4	1.14	0.00000284	742
Loss of Function	0.344	14	15.5	0.906	8.70e-7	204

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00257	0.00257
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000442	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000379	0.000378
Middle Eastern	0.000442	0.000435
South Asian	0.000229	0.000229
Other	0.00163	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protects against apoptosis mediated by Apaf-1.

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.873
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.54

Haploinsufficiency Scores

• pHI: 0.0754
• hipred: N
• hipred_score: 0.341
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.951

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aven
• Phenotype: cellular phenotype

Gene ontology

• Biological process: apoptotic process;negative regulation of apoptotic process
• Cellular component: endomembrane system;membrane
• Molecular function: protein binding