AOPEP

aminopeptidase O (putative), the group of M1 metallopeptidases|MicroRNA protein coding host genes

Basic information

Region (hg38): 9:94726698-95087159

Previous symbols: [ "C9orf3" ]

Links

ENSG00000148120 ∙ NCBI:84909 ∙ OMIM:619600 ∙ HGNC:1361 ∙ Uniprot:Q8N6M6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Dystonia 31	AR	Neurologic	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	34596301
Most individuals have been described as not responsive to levodopa therapy

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AOPEP gene.

• not provided (5 variants)
• Dystonia 31 (4 variants)
• AOPEP-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOPEP 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			3		1	4
nonsense		1				1
start loss						0
frameshift	1	1				2
inframe indel						0
splice donor/acceptor (+/-2bp)	1					1
splice region						0
non coding						0
Total	2	2	3	1	1

Highest pathogenic variant AF is 0.0000328

Variants in AOPEP

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

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

Position	Type	Phenotype	Significance	ClinVar
9-94759910-A-G		Inborn genetic diseases	Uncertain significance (Nov 01, 2021)
9-94759925-G-A			Uncertain significance (Jul 01, 2022)
9-94760033-G-A		Inborn genetic diseases	Uncertain significance (Aug 12, 2021)
9-94760091-G-A			Benign (May 25, 2018)
9-94760130-A-G		Inborn genetic diseases	Uncertain significance (Jul 20, 2021)
9-94760397-A-G			Uncertain significance (Mar 01, 2024)
9-94760486-C-T		Dystonia 31	Likely pathogenic (Apr 14, 2023)
9-94760546-C-T		Dystonia 31	Pathogenic (Jan 28, 2022)
9-94760560-G-A		Dystonia 31	Pathogenic (Jan 28, 2022)
9-94773170-T-G		Dystonia 31	Pathogenic (-)
9-94800844-C-G			Likely benign (Jul 01, 2022)
9-94800852-CT-C		Dystonia 31 • AOPEP-related disorder	Likely pathogenic (Jul 18, 2023)
9-94800991-G-A			Likely benign (Dec 01, 2023)
9-94924026-G-A			Uncertain significance (Apr 01, 2023)
9-94924098-C-T		Dystonia 31	Pathogenic (Jan 28, 2022)
9-94924134-G-A		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
9-94928479-C-T			Uncertain significance (Jan 01, 2023)
9-94928511-C-T			Likely benign (Mar 01, 2024)
9-94955251-A-G		Inborn genetic diseases	Uncertain significance (Aug 09, 2021)
9-94955258-CA-C		Dystonia 31	Pathogenic (-)
9-94955271-T-C		Inborn genetic diseases	Uncertain significance (Oct 20, 2021)
9-95005197-C-T		Inborn genetic diseases	Uncertain significance (Jul 21, 2021)
9-95080731-A-G		Inborn genetic diseases	Uncertain significance (Jul 20, 2021)
9-95080761-G-A		Inborn genetic diseases	Uncertain significance (Aug 10, 2021)
9-95080762-G-T		Inborn genetic diseases	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AOPEP	protein_coding	protein_coding	ENST00000375315	15	360459

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.98e-15	0.753	125628	1	119	125748	0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.461	411	438	0.938	0.0000237	5367
Missense in Polyphen		115	139.43	0.82477		1719
Synonymous	0.491	152	160	0.951	0.00000877	1556
Loss of Function	1.87	29	42.1	0.688	0.00000209	494

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000713	0.000696
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000709	0.000707
Finnish	0.000612	0.000601
European (Non-Finnish)	0.000646	0.000624
Middle Eastern	0.000709	0.000707
South Asian	0.000135	0.0000980
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart. {ECO:0000269|PubMed:15687497}.
• Pathway: Peptide hormone metabolism;Metabolism of proteins;Metabolism of Angiotensinogen to Angiotensins (Consensus)

Recessive Scores

• pRec: 0.187

Intolerance Scores

• loftool: 0.986
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.57

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.289
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: 2010111I01Rik
• Phenotype: normal phenotype