APEH

acylaminoacyl-peptide hydrolase

Basic information

Region (hg38): 3:49674014-49683971

Previous symbols: [ "D3F15S2", "DNF15S2", "D3S48E" ]

Links

ENSG00000164062

∙ NCBI:327 ∙ OMIM:102645 ∙ HGNC:586 ∙ Uniprot:P13798 ∙ 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 APEH gene.

not_specified (62 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APEH gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001640.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			62 clinvar			62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APEH	protein_coding	protein_coding	ENST00000296456	22	9962

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.00e-13	0.984	125667	0	81	125748	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	356	426	0.835	0.0000246	4747
Missense in Polyphen		83	120.48	0.68888		1293
Synonymous	1.13	147	166	0.888	0.00000930	1450
Loss of Function	2.48	27	44.9	0.601	0.00000200	508

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000398	0.000380
Ashkenazi Jewish	0.00129	0.00129
East Asian	0.000381	0.000381
Finnish	0.000326	0.000323
European (Non-Finnish)	0.000255	0.000255
Middle Eastern	0.000381	0.000381
South Asian	0.000361	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N- acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser. {ECO:0000269|PubMed:1861871, ECO:0000269|PubMed:2006156}.;
Pathway: Neutrophil degranulation;Eukaryotic Translation Termination;Translation;Metabolism of proteins;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec: 0.304

Intolerance Scores

loftool: 0.724
rvis_EVS: -0.78
rvis_percentile_EVS: 12.97

Haploinsufficiency Scores

pHI: 0.116
hipred: Y
hipred_score: 0.554
ghis: 0.571

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.797

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Apeh
Phenotype

Gene ontology

Biological process: translational termination;proteolysis;neutrophil degranulation;amyloid-beta metabolic process
Cellular component: extracellular region;cytosol;nuclear membrane;extracellular exosome;ficolin-1-rich granule lumen
Molecular function: RNA binding;serine-type endopeptidase activity;protein binding;omega peptidase activity;identical protein binding