FMC1-LUC7L2

protein-coding

FMC1-LUC7L2 readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012]

Previous symbols:

C7orf55-LUC7L2

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:6

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chr7:139,341,360-139,422,599

External References & Databases

Ensembl (ENSG00000269955)

NCBI Gene (100996928)

HGNC:44671

GenCC

ClinVar (FMC1-LUC7L2)

Transcript & Mutation Effects

hg38 • Region Span ~81.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FMC1-LUC7L2 variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 6

Usher syndromeTotal: 1

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense		1 clinvar	6 clinvar			7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	6	0	0	7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001244584.3	RefSeq	NP_001231513.1	11	Standard
ENST00000541515.3	Ensembl	ENSP00000440222.1	11	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000541515
Coding exons: 11
Length: 81240
Individuals with no LoFs: 125693
Homozygous LoFs: 0
Heterozygous LoFs: 54
Defined: 125747
p: 0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.19	170	272	0.626	0.0000165	2967
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.00040	0.00039	rare
South Asian	0.000038	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Essentials

Essential (CRISPR): N