AOAH

acyloxyacyl hydrolase

Basic information

Region (hg38): 7:36512940-36724549

Links

ENSG00000136250 ∙ NCBI:313 ∙ OMIM:102593 ∙ HGNC:548 ∙ Uniprot:P28039 ∙ 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 AOAH gene.

• Inborn genetic diseases (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOAH 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			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in AOAH

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

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

Position	Type	Phenotype	Significance	ClinVar
7-36513258-C-G		not specified	Likely benign (May 24, 2023)
7-36513260-C-T		not specified	Uncertain significance (May 30, 2023)
7-36513344-T-G		not specified	Uncertain significance (Jan 22, 2024)
7-36522062-C-T		not specified	Uncertain significance (Aug 16, 2022)
7-36522091-C-T		not specified	Uncertain significance (Aug 12, 2021)
7-36530423-T-C		not specified	Uncertain significance (May 27, 2022)
7-36530439-T-C		not specified	Uncertain significance (Feb 05, 2024)
7-36530492-G-A		not specified	Uncertain significance (Feb 16, 2023)
7-36532191-C-T		not specified	Uncertain significance (May 09, 2022)
7-36532303-A-C		not specified	Uncertain significance (Aug 30, 2022)
7-36532327-T-C		not specified	Likely benign (Dec 16, 2023)
7-36540360-G-A		not specified	Uncertain significance (Apr 19, 2023)
7-36540360-G-T		not specified	Uncertain significance (Jun 29, 2023)
7-36540379-A-G		not specified	Uncertain significance (Jun 23, 2023)
7-36540486-C-A		not specified	Uncertain significance (Feb 14, 2023)
7-36548613-C-G		not specified	Uncertain significance (Aug 17, 2022)
7-36548676-T-A		not specified	Uncertain significance (Sep 06, 2022)
7-36549445-A-G		not specified	Uncertain significance (Dec 02, 2021)
7-36576577-T-G		not specified	Uncertain significance (May 31, 2023)
7-36576631-G-T		not specified	Uncertain significance (Apr 11, 2023)
7-36576645-T-C		not specified	Uncertain significance (Mar 20, 2023)
7-36594349-A-C		not specified	Uncertain significance (Mar 02, 2023)
7-36616393-G-A		not specified	Uncertain significance (Apr 05, 2023)
7-36616438-G-A		not specified	Uncertain significance (Feb 15, 2023)
7-36618330-C-A		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AOAH	protein_coding	protein_coding	ENST00000258749	21	211699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.38e-14	0.742	125174	2	572	125748	0.00229

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.321	297	313	0.949	0.0000164	3788
Missense in Polyphen		119	126.4	0.94147		1503
Synonymous	1.13	106	122	0.870	0.00000747	1021
Loss of Function	1.80	27	39.2	0.690	0.00000175	470

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00236	0.00235
Ashkenazi Jewish	0.00308	0.00308
East Asian	0.000924	0.000925
Finnish	0.00245	0.00245
European (Non-Finnish)	0.00318	0.00316
Middle Eastern	0.000924	0.000925
South Asian	0.00121	0.00121
Other	0.00244	0.00245

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:8089145, PubMed:29343645). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity). {ECO:0000250|UniProtKB:O35298, ECO:0000269|PubMed:1883828, ECO:0000269|PubMed:29343645, ECO:0000269|PubMed:8089145}.

Recessive Scores

• pRec: 0.115

Intolerance Scores

• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.15

Haploinsufficiency Scores

• pHI: 0.0832
• hipred: N
• hipred_score: 0.187
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aoah
• Phenotype: immune system phenotype

Gene ontology

• Biological process: fatty acid metabolic process;lipopolysaccharide catabolic process
• Cellular component: extracellular region;cytoplasmic vesicle
• Molecular function: calcium ion binding;acyloxyacyl hydrolase activity