FMC1

formation of mitochondrial complex V assembly factor 1 homolog

Basic information

Region (hg38): 7:139339457-139346328

Previous symbols: [ "C7orf55" ]

Links

ENSG00000164898 ∙ NCBI:154791 ∙ ∙ HGNC:26946 ∙ Uniprot:Q96HJ9 ∙ 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 FMC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMC1 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		1				1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	0	0	0

Variants in FMC1

This is a list of pathogenic ClinVar variants found in the FMC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-139341488-A-G		Usher syndrome	Likely pathogenic (Dec 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMC1	protein_coding	protein_coding	ENST00000297534	2	6863

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0126	0.670	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0547	69	70.3	0.982	0.00000368	704
Missense in Polyphen		23	29.012	0.79277		298
Synonymous	-0.314	31	28.9	1.07	0.00000136	246
Loss of Function	0.527	3	4.16	0.721	1.82e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000793	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601). {ECO:0000269|PubMed:28719601}.

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.45

Haploinsufficiency Scores

• pHI: 0.0128
• hipred: N
• hipred_score: 0.185
• ghis: 0.389

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fmc1
• Phenotype: growth/size/body region phenotype; embryo phenotype; vision/eye phenotype; limbs/digits/tail phenotype

Gene ontology

• Biological process: mitochondrial proton-transporting ATP synthase complex assembly;negative regulation of lipid catabolic process;regulation of type B pancreatic cell proliferation
• Cellular component: mitochondrion
• Molecular function: protein binding