FMO1

flavin containing dimethylaniline monoxygenase 1, the group of Flavin containing monooxygenases

Basic information

Region (hg38): 1:171248471-171285978

Links

ENSG00000010932NCBI:2326OMIM:136130HGNC:3769Uniprot:Q01740AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FMO1 gene.

  • not_specified (55 variants)
  • not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001282693.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
52
clinvar
5
clinvar
2
clinvar
59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 52 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FMO1protein_codingprotein_codingENST00000354841 837480
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.12e-110.4741256890591257480.000235
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.052352850.8250.00001393500
Missense in Polyphen78104.590.745751271
Synonymous-0.7481131031.090.000005151025
Loss of Function1.201925.50.7450.00000158276

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003140.000314
Ashkenazi Jewish0.000.00
East Asian0.0008250.000816
Finnish0.000.00
European (Non-Finnish)0.0002740.000273
Middle Eastern0.0008250.000816
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines.;
Pathway
Drug metabolism - cytochrome P450 - Homo sapiens (human);Busulfan Pathway, Pharmacodynamics;Tamoxifen Pathway, Pharmacokinetics;Tamoxifen Action Pathway;Tamoxifen Metabolism Pathway;Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs);Tamoxifen metabolism;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;FMO oxidises nucleophiles;Biological oxidations;Metabolism;Selenoamino acid metabolism;nicotine degradation IV (Consensus)

Recessive Scores

pRec
0.155

Intolerance Scores

loftool
0.688
rvis_EVS
1.09
rvis_percentile_EVS
91.85

Haploinsufficiency Scores

pHI
0.501
hipred
N
hipred_score
0.170
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fmo1
Phenotype

Gene ontology

Biological process
organic acid metabolic process;xenobiotic metabolic process;response to osmotic stress;toxin metabolic process;drug metabolic process;response to lipopolysaccharide;NADPH oxidation
Cellular component
endoplasmic reticulum lumen;endoplasmic reticulum membrane;integral component of membrane;organelle membrane
Molecular function
monooxygenase activity;N,N-dimethylaniline monooxygenase activity;protein binding;flavin adenine dinucleotide binding;NADP binding