AVEN

apoptosis and caspase activation inhibitor

Basic information

Region (hg38): 15:33858782-34075155

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.

• not_specified (70 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. These statistics are base on transcript: NM_000020371.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			68	1		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	2	0

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