FPGT-TNNI3K

protein-coding

FPGT-TNNI3K readthrough, the group of Ankyrin repeat domain containing

Gene summary

Enables protein kinase activity. Involved in peptidyl-serine autophosphorylation and regulation of heart contraction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.16

Max pathogenic AF

—

Genomic locus

chr1:74,198,235-74,544,393

External References & Databases

Ensembl (ENSG00000259030)

NCBI Gene (100526835)

HGNC:42952

GenCC

ClinVar (FPGT-TNNI3K)

Transcript & Mutation Effects

hg38 • Region Span ~346.2 kb

Loading mutation effect viewer...

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 FPGT-TNNI3K variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001112808.3	RefSeq	NP_001106279.3	27	Standard
NM_001199327.2	RefSeq	NP_001186256.3	24	Standard
ENST00000370893.1	Ensembl	ENSP00000359930.1	5	Standard
ENST00000370895.5	Ensembl	ENSP00000359932.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

MAPK cascade

Molecular Function

protein serine/threonine kinase activity
ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000557284
Coding exons: 27
Length: 345748
Individuals with no LoFs: 125042
Homozygous LoFs: 5
Heterozygous LoFs: 701
Defined: 125748
p: 0.00281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.733	553	507	1.09	0.0000255	6173
Missense (PolyPhen)		190	196.34	0.9677		2453
Synonymous	-0.128	184	182	1.01	0.00000908	1801
Loss of Function	-1.15	67	57.6	1.16	0.00000299	695

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0029	0.0029	notable
Latino/Admixed American	0.0076	0.0074	notable
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0024	0.0023	notable
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.0017	0.0017	notable
South Asian	0.0050	0.0048	notable
Other	0.0030	0.0028	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in cardiac physiology. {ECO:0000303|PubMed:12721663}.;
Disease: DISEASE: Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117]: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. {ECO:0000269|PubMed:24925317}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Intolerance Scores

RVIS EVS: -0.39
RVIS percentile EVS: 27.08

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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