FMO4

flavin containing dimethylaniline monoxygenase 4, the group of Flavin containing monooxygenases

Basic information

Region (hg38): 1:171314183-171342084

Previous symbols: [ "FMO2" ]

Links

ENSG00000076258 ∙ NCBI:2329 ∙ OMIM:136131 ∙ HGNC:3772 ∙ Uniprot:P31512 ∙ 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 FMO4 gene.

• not_specified (62 variants)
• not_provided (7 variants)
• Trimethylaminuria (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMO4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002022.3. 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					2	2
missense			62	4	1	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMO4	protein_coding	protein_coding	ENST00000367749	8	27877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.06e-10	0.301	125643	1	95	125739	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.437	276	297	0.929	0.0000146	3670
Missense in Polyphen		104	109.64	0.94858		1391
Synonymous	0.168	105	107	0.979	0.00000540	1057
Loss of Function	0.916	18	22.7	0.793	0.00000112	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000303	0.000302
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.00204	0.00201
Finnish	0.000191	0.000185
European (Non-Finnish)	0.000287	0.000273
Middle Eastern	0.00204	0.00201
South Asian	0.000359	0.000359
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.
• Pathway: Drug metabolism - cytochrome P450 - Homo sapiens (human);Busulfan Pathway, Pharmacodynamics;Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs);Metapathway biotransformation Phase I and II;Selenoamino acid metabolism;nicotine degradation IV (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.6

Haploinsufficiency Scores

• pHI: 0.0952
• hipred: N
• hipred_score: 0.144
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fmo4

Gene ontology

• Biological process: drug catabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;organelle membrane
• Molecular function: monooxygenase activity;N,N-dimethylaniline monooxygenase activity;flavin adenine dinucleotide binding;NADP binding