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STON1-GTF2A1L (STON1-GTF2A1L readthrough)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286749
Gene nameGene Name - the full gene name approved by the HGNC.
STON1-GTF2A1L readthrough
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STON1-GTF2A1L
SynonymsGene synonyms aliases
ALF, GTF2A1L, GTF2A1LF, SALF
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leydig cell agenesis Leydig cell agenesis rs121912537, rs121912520, rs121912523, rs121912524, rs121912525, rs121912529, rs2104352652, rs71245621, rs121912536, rs121912538, rs121912539, rs144859947, rs773279269, rs1553387851, rs140568136, rs1572874955
Pseudohermaphroditism Pseudohermaphroditism rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693
Somatic leydig cell adenoma with male-limited precocious puberty Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty rs121912532
Unknown
Disease name Disease term dbSNP ID References
Luteinizing hormone resistance, female Luteinizing Hormone Resistance, Female
Physiologic amenorrhea Primary physiologic amenorrhea
Polycystic ovary syndrome Polycystic Ovary Syndrome 22885925, 21151128
Testotoxicosis Familial Testotoxicosis

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