FMO5

flavin containing dimethylaniline monoxygenase 5, the group of Flavin containing monooxygenases

Basic information

Region (hg38): 1:147175350-147243050

Links

ENSG00000131781 ∙ NCBI:2330 ∙ OMIM:603957 ∙ HGNC:3773 ∙ Uniprot:P49326 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital heart disease (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FMO5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMO5 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			47	1	1	49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	47	1	2

Variants in FMO5

This is a list of pathogenic ClinVar variants found in the FMO5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-147186911-C-G		not specified	Uncertain significance (Jun 28, 2023)
1-147186931-G-T		not specified	Uncertain significance (Oct 06, 2022)
1-147186967-G-A		not specified	Uncertain significance (Nov 09, 2023)
1-147187022-G-A		not specified	Uncertain significance (Jul 21, 2021)
1-147187025-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-147187081-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-147187084-T-C		not specified	Uncertain significance (Oct 26, 2022)
1-147187093-G-A		not specified	Uncertain significance (Jul 13, 2022)
1-147187094-G-C		not specified	Uncertain significance (Jun 14, 2023)
1-147187105-C-T		not specified	Uncertain significance (Jan 10, 2022)
1-147187120-A-G		not specified	Uncertain significance (Aug 08, 2023)
1-147187127-G-C		not specified	Uncertain significance (Mar 02, 2023)
1-147187198-G-T		not specified	Uncertain significance (Jul 15, 2021)
1-147187229-G-A		not specified	Uncertain significance (Nov 17, 2022)
1-147187241-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-147190183-T-C		not specified	Uncertain significance (Sep 26, 2023)
1-147190186-A-G		not specified	Uncertain significance (Jan 03, 2024)
1-147201145-C-T			Likely benign (Jul 07, 2018)
1-147201163-T-C			Benign/Likely benign (Mar 01, 2024)
1-147201173-A-G		not specified	Uncertain significance (Aug 17, 2022)
1-147201176-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-147201224-A-T		not specified	Uncertain significance (Mar 04, 2024)
1-147201233-T-G		not specified	Uncertain significance (Aug 23, 2021)
1-147201336-G-A			Benign (Dec 26, 2018)
1-147201367-A-G		not specified	Uncertain significance (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMO5	protein_coding	protein_coding	ENST00000254090	8	67771

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.70e-15	0.0113	125553	0	195	125748	0.000776

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.633	319	289	1.10	0.0000141	3525
Missense in Polyphen		124	124.02	0.99981		1467
Synonymous	0.727	90	99.2	0.907	0.00000472	1014
Loss of Function	-0.0623	22	21.7	1.01	0.00000111	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00292	0.00291
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.000489	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000628	0.000607
Middle Eastern	0.000489	0.000435
South Asian	0.00115	0.00108
Other	0.00181	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme.
• 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: 0.0903

Intolerance Scores

• loftool: 0.978
• rvis_EVS: 0.07
• rvis_percentile_EVS: 58.96

Haploinsufficiency Scores

• pHI: 0.0441
• hipred: N
• hipred_score: 0.219
• ghis: 0.387

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0707

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fmo5
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

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