MIOX

myo-inositol oxygenase

Basic information

Region (hg38): 22:50486784-50490648

Previous symbols: [ "ALDRL6" ]

Links

ENSG00000100253 ∙ NCBI:55586 ∙ OMIM:606774 ∙ HGNC:14522 ∙ Uniprot:Q9UGB7 ∙ 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 MIOX gene.

• not_specified (57 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIOX gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017584.6. 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			55	1	1	57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIOX	protein_coding	protein_coding	ENST00000216075	10	3865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-17	0.000698	125559	0	156	125715	0.000621

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.491	203	184	1.10	0.0000117	1885
Missense in Polyphen		98	77.688	1.2615		792
Synonymous	-2.10	102	78.4	1.30	0.00000550	524
Loss of Function	-1.11	23	17.9	1.28	9.19e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00135	0.00132
Ashkenazi Jewish	0.00469	0.00438
East Asian	0.000545	0.000544
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000318	0.000308
Middle Eastern	0.000545	0.000544
South Asian	0.00111	0.00111
Other	0.000529	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Inositol phosphate metabolism - Homo sapiens (human);Ascorbate and aldarate metabolism - Homo sapiens (human);Inositol Metabolism;Inositol phosphate metabolism;Metabolism;Inositol phosphate metabolism;Synthesis of IP2, IP, and Ins in the cytosol (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.205
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.11

Haploinsufficiency Scores

• pHI: 0.179
• hipred: N
• hipred_score: 0.197
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.935

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Miox

Gene ontology

• Biological process: inositol catabolic process;inositol phosphate metabolic process;oxidation-reduction process
• Cellular component: cytoplasm;cytosol;inclusion body
• Molecular function: aldo-keto reductase (NADP) activity;ferric iron binding;oxidoreductase activity, acting on NAD(P)H;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen;inositol oxygenase activity