Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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286749 |
Gene nameGene Name - the full gene name approved by the HGNC.
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STON1-GTF2A1L readthrough |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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STON1-GTF2A1L |
SynonymsGene synonyms aliases
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ALF, GTF2A1L, GTF2A1LF, SALF |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p16.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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.
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Associated diseases
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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 |
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Pseudohermaphroditism |
Pseudohermaphroditism |
rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693 |
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Somatic leydig cell adenoma with male-limited precocious puberty |
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty |
rs121912532 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Luteinizing hormone resistance, female |
Luteinizing Hormone Resistance, Female |
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Physiologic amenorrhea |
Primary physiologic amenorrhea |
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Polycystic ovary syndrome |
Polycystic Ovary Syndrome |
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22885925, 21151128 |
Testotoxicosis |
Familial Testotoxicosis |
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