FPGT-TNNI3K (FPGT-TNNI3K readthrough)

Gene

• Entrez ID: 100526835
• Gene name: FPGT-TNNI3K readthrough
• Gene symbol: FPGT-TNNI3K
• Synonyms (NCBI Gene): CARK, TNNI3K
• Chromosome: 1
• Chromosome location: 1p31.1
• Summary: This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are comp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016954	hsa-miR-335-5p	Microarray	18185580
MIRT016954	hsa-miR-335-5p	Microarray	18185580
MIRT1003952	hsa-miR-186	CLIP-seq
MIRT1003953	hsa-miR-197	CLIP-seq
MIRT1003954	hsa-miR-5096	CLIP-seq

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial conduction disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FPGT-TNNI3K-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	37199186	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	24925317, 37199186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	UNIPROT_DG	24925317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	ORPHANET_DG	24925317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	GENOMICS_ENGLAND_DG	29355681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	24925317	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23085512, 30010057		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24925317, 36672924, 37199186	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24925317, 29355681, 30010057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24925317, 28744816, 29355681		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25787061		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	29355681		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30334579		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	29355681		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29599390		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30334579		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23472207, 25787061, 29561151		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29599390		★☆☆☆☆ Found in Text Mining only
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	18552163, 24925317, 31589606		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24925317, 32529721, 34440456, 37199186	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23472207, 25787061, 29561151		★☆☆☆☆ Found in Text Mining only
Left anterior fascicular block	Left anterior fascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18552163		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30334579		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21779088, 22513296, 23929626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	22041983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	22484627, 23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal supraventricular tachycardia	Paroxysmal supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	29769702		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	30010057		★☆☆☆☆ Found in Text Mining only