PAOX

polyamine oxidase

Basic information

Region (hg38): 10:133379261-133391694

Links

ENSG00000148832

∙ NCBI:196743 ∙ OMIM:615853 ∙ HGNC:20837 ∙ Uniprot:Q6QHF9 ∙ 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 PAOX gene.

not_specified (83 variants)
not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAOX gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152911.4. 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				11 clinvar		11
missense			69 clinvar	5 clinvar		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	16	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAOX	protein_coding	protein_coding	ENST00000278060	7	12504

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.86e-9	0.218	125693	0	55	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.211	281	291	0.965	0.0000191	3265
Missense in Polyphen		95	108.09	0.87891		1189
Synonymous	0.340	138	143	0.964	0.0000113	1112
Loss of Function	0.499	14	16.2	0.866	7.92e-7	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000636	0.000572
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000277	0.000273
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Flavoenzyme which catalyzes the oxidation of N(1)- acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)-acetylspermidine to putrescine. Substrate specificity: N(1)-acetylspermine = N(1)- acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs.;
Pathway: Peroxisome - Homo sapiens (human);PAOs oxidise polyamines to amines;Amine Oxidase reactions;Phase I - Functionalization of compounds;Metabolism of proteins;Interconversion of polyamines;Metabolism of polyamines;Metabolism of amino acids and derivatives;Biological oxidations;Metabolism;Peroxisomal protein import;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;spermine and spermidine degradation I;Alpha9 beta1 integrin signaling events (Consensus)

Recessive Scores

pRec: 0.185

Intolerance Scores

loftool: 0.103
rvis_EVS: 0.53
rvis_percentile_EVS: 81.01

Haploinsufficiency Scores

pHI: 0.149
hipred: N
hipred_score: 0.197
ghis: 0.478

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.300

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Paox
Phenotype

Gene ontology

Biological process: polyamine biosynthetic process;protein targeting to peroxisome;putrescine biosynthetic process;putrescine catabolic process;spermidine catabolic process;spermine catabolic process;oxidation-reduction process;positive regulation of spermidine biosynthetic process
Cellular component: peroxisomal matrix;cytosol
Molecular function: signaling receptor binding;oxidoreductase activity;polyamine oxidase activity;N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity;spermine:oxygen oxidoreductase (spermidine-forming) activity;spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity;N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity;N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity