Details of Epigenetic Molecule(EM)
General Information of EM (ID: EM12460) | |||||||
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Official Symbol |
TOR1AIP1
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Official Full Name |
Torsin 1A Interacting Protein 1
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Synonym |
Torsin 1A Interacting Protein 1;LAP1B;LAP1;LAP1C;Torsin-1A-Interacting Protein 1;Lamina Associated Polypeptide 1B;Lamina-Associated Polypeptide 1B;LGMD2Y
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Molecule Type |
Protein coding
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Position On Chromosome |
chr1(Start:179882042 - End:179920077)
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Strand |
+
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Uniprot Entry | |||||||
ENSG ID | |||||||
Disease Relevance (Click to Show/Hide) | |||||||
8A20: Alzheimer disease | Alzheimer's disease [Alzheimer disease] | ||||||
Detailed Information |
Disease Link
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LD2C: Overgrowth syndromes | Sotos syndrome(SS) [Overgrowth syndromes] | ||||||
Detailed Information |
Disease Link
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SE30: Developmental delay disorder | CHARGE and Kabuki syndromes [Developmental delay disorder] | ||||||
Detailed Information |
Disease Link
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XH5QN3: Nephroblastoma | Wilms tumor [Nephroblastoma] | ||||||
Detailed Information |
Disease Link
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Metabolite(s) with this epigenetic modification | |||||||
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Metabolite Name: Valerate | |||||||
Detailed Information |
Meta Info
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[1], [2] | |||||
Description |
Valerate has been shown to hypermethylate TOR1AIP1 CpG site in breast cancer cells.
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