FMC1-LUC7L2

FMC1-LUC7L2 readthrough

Basic information

Region (hg38): 7:139341360-139422599

Previous symbols: [ "C7orf55-LUC7L2" ]

Links

ENSG00000269955 ∙ NCBI:100996928 ∙ ∙ HGNC:44671 ∙ ∙ ∙ 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-LUC7L2 gene.

• Inborn genetic diseases (6 variants)
• Usher syndrome (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMC1-LUC7L2 gene is commonly pathogenic or not. These statistics are base on transcript: . 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense		1	6			7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	6	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMC1-LUC7L2	protein_coding	protein_coding	ENST00000541515	11	81240

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000283	0.999	125693	0	54	125747	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.19	170	272	0.626	0.0000165	2967
Missense in Polyphen		17	77.125	0.22042		967
Synonymous	1.08	75	87.8	0.854	0.00000405	866
Loss of Function	3.00	11	28.2	0.390	0.00000187	326

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000204	0.000204
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00	0.00
Finnish	0.0000481	0.0000462
European (Non-Finnish)	0.000401	0.000387
Middle Eastern	0.00	0.00
South Asian	0.0000378	0.0000327
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}.

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.598

Essentials

• essential_gene_CRISPR: N