FMO1
Basic information
Region (hg38): 1:171248471-171285978
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 1 | |||||
missense | 52 | 59 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 52 | 6 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FMO1 | protein_coding | protein_coding | ENST00000354841 | 8 | 37480 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.12e-11 | 0.474 | 125689 | 0 | 59 | 125748 | 0.000235 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.05 | 235 | 285 | 0.825 | 0.0000139 | 3500 |
Missense in Polyphen | 78 | 104.59 | 0.74575 | 1271 | ||
Synonymous | -0.748 | 113 | 103 | 1.09 | 0.00000515 | 1025 |
Loss of Function | 1.20 | 19 | 25.5 | 0.745 | 0.00000158 | 276 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000314 | 0.000314 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000825 | 0.000816 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000274 | 0.000273 |
Middle Eastern | 0.000825 | 0.000816 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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