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Fusion gene ID: 39711 |
FusionGeneSummary for TSC1_DOLPP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TSC1_DOLPP1 | Fusion gene ID: 39711 | Hgene | Tgene | Gene symbol | TSC1 | DOLPP1 | Gene ID | 7248 | 57171 |
| Gene name | TSC complex subunit 1 | dolichyldiphosphatase 1 | |
| Synonyms | LAM|TSC | LSFR2 | |
| Cytomap | 9q34.13 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hamartintuberous sclerosis 1 protein | dolichyldiphosphatase 1dolichyl pyrophosphate phosphatase 1linked to Surfeit genes in Fugu rubripes 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92574 | Q86YN1 | |
| Ensembl transtripts involved in fusion gene | ENST00000298552, ENST00000545250, ENST00000440111, ENST00000403810, ENST00000475903, | ENST00000372546, ENST00000406974, ENST00000540102, | |
| Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TSC1 [Title/Abstract] AND DOLPP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | TSC1 | GO:0006417 | regulation of translation | 17308101 |
| Hgene | TSC1 | GO:0032780 | negative regulation of ATPase activity | 29127155 |
| Hgene | TSC1 | GO:0032868 | response to insulin | 16996505 |
| Hgene | TSC1 | GO:0050821 | protein stabilization | 11175345 |
| Hgene | TSC1 | GO:0051492 | regulation of stress fiber assembly | 10806479 |
| Hgene | TSC1 | GO:0051894 | positive regulation of focal adhesion assembly | 10806479 |
| Hgene | TSC1 | GO:0090630 | activation of GTPase activity | 10806479 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | HNSC | TCGA-CR-6487-01A | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000298552 | ENST00000372546 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| Frame-shift | ENST00000298552 | ENST00000406974 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| Frame-shift | ENST00000298552 | ENST00000540102 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000545250 | ENST00000372546 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000545250 | ENST00000406974 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000545250 | ENST00000540102 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000440111 | ENST00000372546 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000440111 | ENST00000406974 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| In-frame | ENST00000440111 | ENST00000540102 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| Frame-shift | ENST00000403810 | ENST00000372546 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| Frame-shift | ENST00000403810 | ENST00000406974 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| Frame-shift | ENST00000403810 | ENST00000540102 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| intron-3CDS | ENST00000475903 | ENST00000372546 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| intron-3CDS | ENST00000475903 | ENST00000406974 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
| intron-3CDS | ENST00000475903 | ENST00000540102 | TSC1 | chr9 | 135796750 | - | DOLPP1 | chr9 | 131848988 | + |
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FusionProtFeatures for TSC1_DOLPP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TSC1 | DOLPP1 |
| In complex with TSC2, inhibits the nutrient-mediated orgrowth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 bynegatively regulating mTORC1 signaling (PubMed:12271141,PubMed:28215400). Seems not to be required for TSC2 GAP activitytowards RHEB (PubMed:15340059). Implicated as a tumor suppressor.Involved in microtubule-mediated protein transport, but this seemsto be due to unregulated mTOR signaling (By similarity). Acts as aco-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning ofprotein clients such as kinases, TSC2 and glucocorticoid receptorNR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 andinhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes withthe activating co-chaperone AHSA1 for binding to HSP90AA1, therebyproviding a reciprocal regulatory mechanism for chaperoning ofclient proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 andstabilizes TSC2 by preventing the interaction between TSC2 andubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).{ECO:0000250|UniProtKB:Q9Z136, ECO:0000269|PubMed:12271141,ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:16464865,ECO:0000269|PubMed:28215400, ECO:0000269|PubMed:29127155}. | Required for efficient N-glycosylation. Necessary formaintaining optimal levels of dolichol-linked oligosaccharides.Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichylmonophosphate at a much lower rate. Does not act on phosphatidate(By similarity). {ECO:0000250|UniProtKB:Q9JMF7}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TSC1_DOLPP1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_237aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_237aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_237aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_288aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_288aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_288aa MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_711nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCA ATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCAC GTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCC TTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCG GAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCC >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_711nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCA ATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCAC GTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCC TTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCG GAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCC >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_711nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCA ATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCAC GTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCC TTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCG GAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCC >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_864nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTC TCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTC AAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCAT CTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTC CATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAA GAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCAT GAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTA >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_864nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTC TCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTC AAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCAT CTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTC CATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAA GAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCAT GAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTA >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_864nt ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAA GAGAACCTCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC CTGACCACCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTC TCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTC AAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCAT CTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTC CATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAA GAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCAT GAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_2222nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTC CACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGG AAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGC GTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAG TGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTAC TCTGGTTTGAGTACACGGTAACCCGGGCAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTG GGTCCAGCCTCCAGATCTGGCCCGCACGATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAG TCACCAAGTGGAGCCTTTTTTTTTCTTATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGG GGGGCCTGCTGCCTGGGGGCCGTGGCCAGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCAC CTGGGTGTGGGGTGGAGGAGGAGGGCTCGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTT TGGTTTTGTCAGAGGCAGGCAGGATTTTGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTC CCAGGCCCTTCGCCCTATGCCCAGAGGGCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACA CCCTCCCTGCCACCGTTGCCGTTCCAGAACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTG CTGTCGTTGTGTTCTACCCCGTACTGACCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAA GGAGCCTGCACATTTGGGTGAGCAGACCCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGT GAACAAAATGGGAAGGAGCCGTGAGGAGAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTC CTTGTCCTTCCTGACCCATCTCTGACCAGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCT ATCAGCCTGGTTCGTGGGAGGGCTCTTCCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAG ACTCTCAGAAGTTTTGAGGACTGAACTGGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTG CTGCTGAAGCACAATGTTTTGGTGCTTTCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTA TTTCTAGGGAAGGTAGGTCGGTTTCCATGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGT >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_2222nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTC CACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGG AAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGC GTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAG TGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTAC TCTGGTTTGAGTACACGGTAACCCGGGCAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTG GGTCCAGCCTCCAGATCTGGCCCGCACGATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAG TCACCAAGTGGAGCCTTTTTTTTTCTTATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGG GGGGCCTGCTGCCTGGGGGCCGTGGCCAGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCAC CTGGGTGTGGGGTGGAGGAGGAGGGCTCGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTT TGGTTTTGTCAGAGGCAGGCAGGATTTTGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTC CCAGGCCCTTCGCCCTATGCCCAGAGGGCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACA CCCTCCCTGCCACCGTTGCCGTTCCAGAACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTG CTGTCGTTGTGTTCTACCCCGTACTGACCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAA GGAGCCTGCACATTTGGGTGAGCAGACCCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGT GAACAAAATGGGAAGGAGCCGTGAGGAGAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTC CTTGTCCTTCCTGACCCATCTCTGACCAGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCT ATCAGCCTGGTTCGTGGGAGGGCTCTTCCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAG ACTCTCAGAAGTTTTGAGGACTGAACTGGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTG CTGCTGAAGCACAATGTTTTGGTGCTTTCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTA TTTCTAGGGAAGGTAGGTCGGTTTCCATGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGT >In-frame_TSC1_ENST00000545250_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_2224nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTC CACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGG AAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGC GTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAG TGACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTAC TCTGGTTTGAGTACACGGTAACCCGGGCAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTG GGTCCAGCCTCCAGATCTGGCCCGCACGATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAG TCACCAAGTGGAGCCTTTTTTTTTCTTATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGG GGGGCCTGCTGCCTGGGGGCCGTGGCCAGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCAC CTGGGTGTGGGGTGGAGGAGGAGGGCTCGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTT TGGTTTTGTCAGAGGCAGGCAGGATTTTGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTC CCAGGCCCTTCGCCCTATGCCCAGAGGGCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACA CCCTCCCTGCCACCGTTGCCGTTCCAGAACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTG CTGTCGTTGTGTTCTACCCCGTACTGACCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAA GGAGCCTGCACATTTGGGTGAGCAGACCCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGT GAACAAAATGGGAAGGAGCCGTGAGGAGAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTC CTTGTCCTTCCTGACCCATCTCTGACCAGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCT ATCAGCCTGGTTCGTGGGAGGGCTCTTCCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAG ACTCTCAGAAGTTTTGAGGACTGAACTGGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTG CTGCTGAAGCACAATGTTTTGGTGCTTTCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTA TTTCTAGGGAAGGTAGGTCGGTTTCCATGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGT >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000372546_chr9_131848988_+_2375nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTAC TGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGG ACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTG ATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCA GTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACC TGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGG ACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTAACCCGGG CAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTGGGTCCAGCCTCCAGATCTGGCCCGCAC GATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAGTCACCAAGTGGAGCCTTTTTTTTTCTT ATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGGGGGGCCTGCTGCCTGGGGGCCGTGGCC AGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCACCTGGGTGTGGGGTGGAGGAGGAGGGCT CGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTTTGGTTTTGTCAGAGGCAGGCAGGATTT TGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTCCCAGGCCCTTCGCCCTATGCCCAGAGG GCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACACCCTCCCTGCCACCGTTGCCGTTCCAG AACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTGCTGTCGTTGTGTTCTACCCCGTACTGA CCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAAGGAGCCTGCACATTTGGGTGAGCAGAC CCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGTGAACAAAATGGGAAGGAGCCGTGAGGA GAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTCCTTGTCCTTCCTGACCCATCTCTGACC AGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCTATCAGCCTGGTTCGTGGGAGGGCTCTT CCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAGACTCTCAGAAGTTTTGAGGACTGAACT GGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTGCTGCTGAAGCACAATGTTTTGGTGCTT TCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTATTTCTAGGGAAGGTAGGTCGGTTTCCA TGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGTTTGATTTAAGAAAAATCAATGAAATTG >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000406974_chr9_131848988_+_2375nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTAC TGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGG ACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTG ATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCA GTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACC TGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGG ACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTAACCCGGG CAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTGGGTCCAGCCTCCAGATCTGGCCCGCAC GATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAGTCACCAAGTGGAGCCTTTTTTTTTCTT ATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGGGGGGCCTGCTGCCTGGGGGCCGTGGCC AGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCACCTGGGTGTGGGGTGGAGGAGGAGGGCT CGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTTTGGTTTTGTCAGAGGCAGGCAGGATTT TGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTCCCAGGCCCTTCGCCCTATGCCCAGAGG GCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACACCCTCCCTGCCACCGTTGCCGTTCCAG AACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTGCTGTCGTTGTGTTCTACCCCGTACTGA CCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAAGGAGCCTGCACATTTGGGTGAGCAGAC CCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGTGAACAAAATGGGAAGGAGCCGTGAGGA GAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTCCTTGTCCTTCCTGACCCATCTCTGACC AGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCTATCAGCCTGGTTCGTGGGAGGGCTCTT CCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAGACTCTCAGAAGTTTTGAGGACTGAACT GGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTGCTGCTGAAGCACAATGTTTTGGTGCTT TCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTATTTCTAGGGAAGGTAGGTCGGTTTCCA TGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGTTTGATTTAAGAAAAATCAATGAAATTG >In-frame_TSC1_ENST00000440111_chr9_135796750_-_DOLPP1_ENST00000540102_chr9_131848988_+_2377nt CAGTTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCC AACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACC TCAATTCTGACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCA CCTTGCAAGAGCCACATGACAAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTAC TGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGG ACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTG ATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCA GTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACC TGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGG ACCCTCGAAGGCCTGTCTCCGAGTTCTTCCTAATCCGAGACACAAGCCTCATTCCCAACGTACTCTGGTTTGAGTACACGGTAACCCGGG CAGAAGCCAGGAACAGACAACGCAAGCTGGGGACGAAACTGCAGTGACCAGTGGGTGTGGCTGGGTCCAGCCTCCAGATCTGGCCCGCAC GATGCCTTGCAGGATGGACAGGATGACAGACAGGGACGAAGCAGAGACCTCTACAGACCCAAGTCACCAAGTGGAGCCTTTTTTTTTCTT ATTTTAATTTTAATGAACAAGGTGGACCAAAGGGCTGAACCAGCCCCTCAACCAGGACCCTGGGGGGCCTGCTGCCTGGGGGCCGTGGCC AGAGACCCTCGCTGTGCTGCTGCCAGCCCCTGGCTGGGCAGAAAGTGCCCTCGGCATGGGCACCTGGGTGTGGGGTGGAGGAGGAGGGCT CGCGCCTCTGGTCTCGGGGCCAGGAATTCCAGGTGGCGTGAGAAGTACACACTATTTATTTTTTGGTTTTGTCAGAGGCAGGCAGGATTT TGGAGCTGGAAGAATCTGCTCTCCGGTGGCTGCCCTGTGAACAGAGGGCTCCCGGTCAGCTTCCCAGGCCCTTCGCCCTATGCCCAGAGG GCAGACTGCCTCTCCCTGGGCCGGGGTGGCCTGGGTGCCAGGAGGAGGGGAGCATACCCCACACCCTCCCTGCCACCGTTGCCGTTCCAG AACCTCGGTCAGTGTTTCCCTGTCTGGGGGCAGGGCCCAGAGCGAGCACGCGTCTGGCGGCTGCTGTCGTTGTGTTCTACCCCGTACTGA CCCAACACCACAAGGGCTTTCTCTGGTCCCCTGTCCCTAAGACAATAATCGCTTTCTGACAAAGGAGCCTGCACATTTGGGTGAGCAGAC CCAAGCTGTTTACAGCTCTTTCTTGTCCTGCCATCCAGTAGCAGTTAGTCTTCATCCCCACGTGAACAAAATGGGAAGGAGCCGTGAGGA GAGGAGTGAGGCAACAGGCACCCGAAGTCCCTCGTCCTTCCCTCTGTGTGCTCTGAATATGTCCTTGTCCTTCCTGACCCATCTCTGACC AGCTGGGAACCTGCTTGGGGTCCCCCTCAAACCTGTGTCTGGGGTGTGGGCTCACAGATCCCTATCAGCCTGGTTCGTGGGAGGGCTCTT CCTAAAGGGACCCCCATCTCTAAGTCACTCTGAAAGGGAGTTGTGGAGAGGAGACGCCTCCAGACTCTCAGAAGTTTTGAGGACTGAACT GGGTCACTCGGGATCTGTGTTCGAATCCTCCCCACCCCTTTCTTTGTGGAGTTTCCTAACCTGCTGCTGAAGCACAATGTTTTGGTGCTT TCTTTTCTCATTTGTTAAAGGCAGTGTCCAAAAGCCATTCCAGATGCCAAGACCAGGGGCTTATTTCTAGGGAAGGTAGGTCGGTTTCCA TGTTTCCCTCCCGTTATTTTTATTTTTTACTTTTTGCCTGAGACAAGCCGAGTATGAGGTGGTTTGATTTAAGAAAAATCAATGAAATTG |
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FusionGenePPI for TSC1_DOLPP1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TSC1 | MSN, YWHAZ, EZR, ACTA1, AKT1, NEFL, PLK1, RHEB, RPS6KA1, CDK1, GSK3B, PAM, PTK2, TSC1, TSC2, AXIN1, DOCK7, FBXW5, TBC1D7, BECN1, YWHAB, YWHAG, CDKN1B, IKBKB, ATXN1, NGFRAP1, YWHAE, MAPK14, ESR1, KDM1A, PRMT6, CIAO1, MOV10, NXF1, DAPK1, RRAGA, RRAGC, AKTIP, HSH2D, SH2D2A, APPL2, DOK5, RIN3, TENC1, KDM5C, TOP1, VHL, PPM1H, CPVL, DYRK1A, PCM1, PIH1D1, RPAP3, RUVBL1, RUVBL2, URI1, WDR92 | DOLPP1 | ELAVL1, HEPHL1, SELENBP1, LYG2, ASS1, LRRC15, PKP3, VSIG8, TCTN2, TCTN3 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TSC1_DOLPP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TSC1_DOLPP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TSC1 | C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | 6 | CTD_human;UNIPROT |
| Hgene | TSC1 | C0041341 | Tuberous Sclerosis | 3 | CTD_human;ORPHANET |
| Hgene | TSC1 | C0014544 | Epilepsy | 2 | CTD_human;HPO |
| Hgene | TSC1 | C0004352 | Autistic Disorder | 1 | CTD_human;HPO |
| Hgene | TSC1 | C0006111 | Brain Diseases | 1 | CTD_human |
| Hgene | TSC1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human;HPO |
| Hgene | TSC1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | TSC1 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Hgene | TSC1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | TSC1 | C0037769 | West Syndrome | 1 | CTD_human |
| Hgene | TSC1 | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human |
| Hgene | TSC1 | C1846385 | FOCAL CORTICAL DYSPLASIA OF TAYLOR | 1 | CTD_human;ORPHANET |
| Hgene | TSC1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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