FER1L6

protein-coding

fer-1 like family member 6, the group of Ferlin family

Gene summary

Predicted to enable calcium-dependent phospholipid binding activity. Predicted to be involved in cardiac muscle tissue development; positive regulation of gene expression; and skeletal muscle tissue development. Predicted to act upstream of or within response to bacterium. Located in plasma membrane; recycling endosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001039112.2

Inheritance

—

ClinVar variants

U:266B:28

Top phenotype

Congenital portosystemic shunt

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr8:123,851,987-124,120,061

External References & Databases

Ensembl (ENSG00000214814)

Transcript & Mutation Effects

hg38 • Region Span ~268.1 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 FER1L6 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 264

not providedTotal: 21

Congenital portosystemic shuntTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039112.2. 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			4 clinvar	5 clinvar	6 clinvar	15
missense			256 clinvar	13 clinvar	4 clinvar	273
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	266	18	10	294

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039112.2	RefSeq	NP_001034201.2	40	MANE Select
ENST00000522917.5	Ensembl	ENSP00000428280.1	40	MANE Select
ENST00001132963.1	Ensembl	ENSP00000813639.1	40	Standard
XM_006716618.4	RefSeq	XP_006716681.1	41	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to bacterium

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000522917
Coding exons: 40
Length: 268076
Individuals with no LoFs: 124888
Homozygous LoFs: 8
Heterozygous LoFs: 852
Defined: 125748
p: 0.00343

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.725	942	1.01e+3	0.936	0.0000527	12280
Missense (PolyPhen)		343	397.18	0.86358		4883
Synonymous	1.63	347	388	0.895	0.0000222	3468
Loss of Function	1.94	77	97.7	0.788	0.00000498	1164

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0024	0.0023	notable
Latino/Admixed American	0.0032	0.0032	notable
Ashkenazi Jewish	0.0027	0.0027	notable
East Asian	0.0034	0.0033	notable
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.0018	0.0018	notable
South Asian	0.013	0.013	notable
Other	0.0046	0.0046	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.225
RVIS EVS: -0.13
RVIS percentile EVS: 44.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.127

Gene Damage Prediction

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