FRMD8

protein-coding

FERM domain containing 8, the group of FERM domain containing

Gene summary

Involved in positive regulation of tumor necrosis factor production. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_031904.5

Inheritance

—

ClinVar variants

U:96B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chr11:65,386,621-65,413,525

External References & Databases

Ensembl (ENSG00000126391)

Transcript & Mutation Effects

hg38 • Region Span ~26.9 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 FRMD8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 92

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031904.5. 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			3 clinvar	3 clinvar		6
missense			91 clinvar	3 clinvar		94
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	96	6	0	102

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031904.5	RefSeq	NP_114110.1	10	MANE Select
ENST00000317568.10	Ensembl	ENSP00000319726.4	10	MANE Select
NM_001300832.3	RefSeq	NP_001287761.1	9	Standard
NM_001300833.3	RefSeq	NP_001287762.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317568
Coding exons: 10
Length: 26927
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125741
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.922	255	300	0.850	0.0000209	2920
Missense (PolyPhen)		66	71.566	0.92223		738
Synonymous	0.486	126	133	0.946	0.00000935	959
Loss of Function	3.23	6	22.5	0.266	0.00000114	236

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00043	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.167
RVIS EVS: -0.15
RVIS percentile EVS: 42.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.707

Gene Damage Prediction

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