STON1-GTF2A1L (STON1-GTF2A1L readthrough)

Gene

• Entrez ID: 286749
• Gene name: STON1-GTF2A1L readthrough
• Gene symbol: STON1-GTF2A1L
• Synonyms (NCBI Gene): ALF, GTF2A1L, GTF2A1LF, SALF
• Chromosome: 2
• Chromosome location: 2p16.3
• Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general tr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028961	hsa-miR-26b-5p	Microarray	19088304
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq

Other IDs

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

Interactions View interactions

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

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
FAMILIAL TESTOTOXICOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STON1-GTF2A1L-related disorder	Likely benign	ClinVar	★★☆☆☆ 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
Acute leukemia	Leukemia	BEFREE	17135274		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28274107		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	25374392		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25374392	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29194678		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30368998		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29685768		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	30368998		★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRAXE Syndrome	Fragile X syndrome	BEFREE	17135274		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	28736976		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30359967, 30368998		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	23770943, 25374392	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28259424		★☆☆☆☆ Found in Text Mining only
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty	Somatic Leydig Cell Adenoma With Male-Limited Precocious Puberty	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leydig cell agenesis	Leydig Cell Agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	21143345, 29946176, 30359967		★☆☆☆☆ Found in Text Mining only
Luteinizing Hormone Resistance, Female	Luteinizing Hormone Resistance, Female	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28775256	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29777796		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	25374392		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	23770943	Stimulate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	23770943		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	21151128, 22885925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	21151128, 22885925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22547425, 39273163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26305227	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary physiologic amenorrhea	Physiologic Amenorrhea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pseudohermaphroditism	Pseudohermaphroditism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only