FANK1

protein-coding

fibronectin type III and ankyrin repeat domains 1, the group of Ankyrin repeat domain containing|Fibronectin type III domain containing

Gene summary

Involved in negative regulation of apoptotic process; positive regulation of DNA-templated transcription; and positive regulation of apoptotic process. Located in chromatin; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_145235.5

Inheritance

—

ClinVar variants

U:61B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr10:125,896,564-126,009,592

External References & Databases

Ensembl (ENSG00000203780)

Transcript & Mutation Effects

hg38 • Region Span ~113.0 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 FANK1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145235.5. 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			2 clinvar		2 clinvar	4
missense			56 clinvar	1 clinvar	1 clinvar	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	61	1	3	65

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145235.5	RefSeq	NP_660278.3	11	MANE Select
ENST00000368693.6	Ensembl	ENSP00000357682.1	11	MANE Select
NM_001350939.2	RefSeq	NP_001337868.1	12	Standard
NM_001363549.2	RefSeq	NP_001350478.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of apoptotic process
negative regulation of apoptotic process
positive regulation of transcription, DNA-templated
positive regulation of DNA-binding transcription factor activity

Molecular Function

protein binding

Cellular Component

chromatin
nucleus
nucleoplasm
cytoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368693
Coding exons: 11
Length: 113054
Individuals with no LoFs: 125338
Homozygous LoFs: 1
Heterozygous LoFs: 409
Defined: 125748
p: 0.00163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.555	173	195	0.888	0.0000106	2237
Missense (PolyPhen)		76	85.691	0.8869		972
Synonymous	0.750	62	70.0	0.886	0.00000390	657
Loss of Function	0.937	16	20.6	0.777	0.00000114	237

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.0010	0.0010	notable
Ashkenazi Jewish	0.0019	0.0019	notable
East Asian	0.00038	0.00038	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.0025	0.0025	notable
South Asian	0.0016	0.0015	notable
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis. {ECO:0000269|PubMed:20978819, ECO:0000269|PubMed:27060496}.;

Recessive Scores

pRec: 0.0941

Intolerance Scores

LoFtool: 0.893
RVIS EVS: 1.64
RVIS percentile EVS: 96.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

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