FMO6P

flavin containing dimethylaniline monoxygenase 6, pseudogene, the group of Flavin containing monooxygenases

Basic information

Region (hg38): 1:171138212-171161396

Previous symbols: [ "FMO6" ]

Links

ENSG00000117507 ∙ NCBI:388714 ∙ ∙ HGNC:24024 ∙ Uniprot:O60774 ∙ 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 FMO6P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMO6P 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMO6P	protein_coding	protein_coding	ENST00000236166	7	23829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000128	0.845	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	163	204	0.798	0.0000103	2752
Missense in Polyphen		54	67.284	0.80257		1040
Synonymous	1.47	59	75.2	0.784	0.00000411	766
Loss of Function	1.38	10	16.0	0.626	6.74e-7	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full-length transcripts.
• Pathway: Selenoamino acid metabolism;nicotine degradation IV (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.0952

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fmo6

Gene ontology

• Biological 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