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Fusion gene ID: 39720 |
FusionGeneSummary for TSC22D1_LETM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TSC22D1_LETM1 | Fusion gene ID: 39720 | Hgene | Tgene | Gene symbol | TSC22D1 | LETM1 | Gene ID | 8848 | 3954 |
| Gene name | TSC22 domain family member 1 | leucine zipper and EF-hand containing transmembrane protein 1 | |
| Synonyms | Ptg-2|TGFB1I4|TSC22 | SLC55A1 | |
| Cytomap | 13q14.11 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TSC22 domain family protein 1TGFB-stimulated clone 22 homologTGFbeta-stimulated clone 22cerebral protein 2regulatory protein TSC-22transcriptional regulator TSC-22transforming growth factor beta-1-induced transcript 4 proteintransforming growth fac | mitochondrial proton/calcium exchanger proteinLETM1 and EF-hand domain-containing protein 1, mitochondrialMdm38 homologleucine zipper-EF-hand containing transmembrane protein 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q15714 | O95202 | |
| Ensembl transtripts involved in fusion gene | ENST00000458659, ENST00000501704, ENST00000261489, ENST00000460842, | ENST00000302787, ENST00000512189, | |
| Fusion gene scores | * DoF score | 13 X 12 X 7=1092 | 3 X 3 X 3=27 |
| # samples | 16 | 4 | |
| ** MAII score | log2(16/1092*10)=-2.77082904603249 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TSC22D1 [Title/Abstract] AND LETM1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor 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 |
| Tgene | LETM1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 19797662 |
| Tgene | LETM1 | GO:0051560 | mitochondrial calcium ion homeostasis | 19797662 |
| Tgene | LETM1 | GO:0099093 | calcium export from the mitochondrion | 19797662 |
| 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-CN-4728-01A | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| * 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 |
| In-frame | ENST00000458659 | ENST00000302787 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| 5CDS-intron | ENST00000458659 | ENST00000512189 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| intron-3CDS | ENST00000501704 | ENST00000302787 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| intron-intron | ENST00000501704 | ENST00000512189 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| intron-3CDS | ENST00000261489 | ENST00000302787 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| intron-intron | ENST00000261489 | ENST00000512189 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| 5UTR-3CDS | ENST00000460842 | ENST00000302787 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
| 5UTR-intron | ENST00000460842 | ENST00000512189 | TSC22D1 | chr13 | 45147299 | - | LETM1 | chr4 | 1827410 | - |
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FusionProtFeatures for TSC22D1_LETM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TSC22D1 | LETM1 |
| Transcriptional repressor. Acts on the C-typenatriuretic peptide (CNP) promoter. | Mitochondrial proton/calcium antiporter that mediatesproton-dependent calcium efflux from mitochondrion(PubMed:19797662). Crucial for the maintenance of mitochondrialtubular networks and for the assembly of the supercomplexes of therespiratory chain (PubMed:18628306). Required for the maintenanceof the tubular shape and cristae organization (PubMed:18628306).In contrast to SLC8B1/NCLX, does not constitute the major factorfor mitochondrial calcium extrusion (PubMed:24898248).{ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662,ECO:0000269|PubMed:24898248}. |
| 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 |
| Hgene | TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000458659 | - | 1 | 3 | 195_241 | 970 | 1074 | Compositional bias | Note=His-rich |
| Hgene | TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000458659 | - | 1 | 3 | 497_817 | 970 | 1074 | Compositional bias | Note=Gln-rich |
| Hgene | TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000458659 | - | 1 | 3 | 59_82 | 970 | 1074 | Compositional bias | Note=Pro-rich |
| Tgene | >LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 676_688 | 360 | 740 | Calcium binding | Ontology_term=ECO:0000255 |
| Tgene | >LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 462_490 | 360 | 740 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 537_627 | 360 | 740 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 708_739 | 360 | 740 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 663_698 | 360 | 740 | Domain | EF-hand |
| - 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 |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000261489 | - | 1 | 3 | 195_241 | -73 | 145 | Compositional bias | Note=His-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000261489 | - | 1 | 3 | 497_817 | -73 | 145 | Compositional bias | Note=Gln-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000261489 | - | 1 | 3 | 59_82 | -73 | 145 | Compositional bias | Note=Pro-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000501704 | - | 1 | 2 | 195_241 | -61 | 571 | Compositional bias | Note=His-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000501704 | - | 1 | 2 | 497_817 | -61 | 571 | Compositional bias | Note=Gln-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000501704 | - | 1 | 2 | 59_82 | -61 | 571 | Compositional bias | Note=Pro-rich |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000261489 | - | 1 | 3 | 1006_1027 | -73 | 145 | Region | Note=Leucine-zipper |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000458659 | - | 1 | 3 | 1006_1027 | 970 | 1074 | Region | Note=Leucine-zipper |
| Hgene | >TSC22D1 | chr13:45147299 | chr4:1827410 | ENST00000501704 | - | 1 | 2 | 1006_1027 | -61 | 571 | Region | Note=Leucine-zipper |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 115_136 | 360 | 740 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 18_21 | 360 | 740 | Compositional bias | Note=Poly-Pro |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 252_537 | 360 | 740 | Domain | Letm1 RBD |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 116_208 | 360 | 740 | Topological domain | Mitochondrial intermembrane |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 230_739 | 360 | 740 | Topological domain | Mitochondrial matrix |
| Tgene | LETM1 | chr13:45147299 | chr4:1827410 | ENST00000302787 | - | 5 | 14 | 209_229 | 360 | 740 | Transmembrane | Helical |
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FusionGeneSequence for TSC22D1_LETM1 |
| 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_TSC22D1_ENST00000458659_chr13_45147299_-_LETM1_ENST00000302787_chr4_1827410_-_1350aa MHQPPESTAAAAAAADISARKMAHPAMFPRRGSGSGSASALNAAGTGVGSNATSSEDFPPPSLLQPPPPAASSTSGPQPPPPQSLNLLSQ AQLQAQPLAPGGTQMKKKSGFQITSVTPAQISASISSNNSIAEDTESYDDLDESHTEDLSSSEILDVSLSRATDLGEPERSSSEETLNNF QEAETPGAVSPNQPHLPQPHLPHLPQQNVVINGNAHPHHLHHHHQIHHGHHLQHGHHHPSHVAVASASITGGPPSSPVSRKLSTTGSSDS ITPVAPTSAVSSSGSPASVMTNMRAPSTTGGIGINSVTGTSTVNNVNITAVGSFNPNVTSSMLGNVNISTSNIPSAAGVSVGPGVTSGVN VNILSGMGNGTISSSAAVSSVPNAAAGMTGGSVSSQQQQPTVNTSRFRVVKLDSSSEPFKKGRWTCTEFYEKENAVPATEGVLINKVVET VKQNPIEVTSERESTSGSSVSSSVSTLSHYTESVGSGEMGAPTVVVQQQQQQQQQQQQQPALQGVTLQQMDFGSTGPQSIPAVSIPQSIS QSQISQVQLQSQELSYQQKQGLQPVPLQATMSAATGIQPSPVNVVGVTSALGQQPSISSLAQPQLPYSQAAPPVQTPLPGAPPPQQLQYG QQQPMVSTQMAPGHVKSVTQNPASEYVQQQPILQTAMSSGQPSSAGVGAGTTVIPVAQPQGIQLPVQPTAVPAQPAGASVQPVGQAPAAV SAVPTGSQIANIGQQANIPTAVQQPSTQVPPSVIQQGAPPSSQVVPPAQTGIIHQGVQTSAPSLPQQLVIASQSSLLTVPPQPQGVEPVA QGIVSQQLPAVSSLPSASSISVTSQVSSTGPSGMPSAPTNLVPPQNIAQTPATQNGNLVQSVSQPPLIATNTNLPLAQQIPLSSTQFSAQ SLAQAIGSQIEDARRAAEPSLVGLPQTISGDSGGMSAVSDGSSSSLAASASLFPLKVLPLTTPLVDGEDESXLLRKGWTAXMSRSCRQRV GHEACGPWASRKTAXGVSXSSGWTCTCIRRSPHRCSSCPGPCTSRTPSLQPTSSSPHCRPSQRLWQRKHRXKWPRWRASRWTTRPSWRPR CRRRRPSSRSTVRRSCRSARRWRRILSPNVWXLLPKGRGPSHSQKCLTQSCSQRPXRTLPRCWRAXRRKRSRRRKSTSSAMPALSCRSRR SHSPRRRRSWSCXRRMCRTTARTCRRSRRNFQRLVKKSTWKNLKPARDXQKGCSKXSGRSMAXSRSWRWTSRLASWPRPTACPRGRTSSV SLSSSTPXSKSSTFPKASSPAWPQHWMKTRMARSTSTTSSRXLSWWTKKMFTSPPARWLRLXQHWKKRRRWRRRRRPKRRQRRRSQRXRA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TSC22D1_ENST00000458659_chr13_45147299_-_LETM1_ENST00000302787_chr4_1827410_-_4052nt ATGCACCAGCCGCCTGAGTCCACCGCCGCGGCCGCCGCCGCTGCAGACATTAGCGCTAGGAAGATGGCGCACCCGGCAATGTTCCCTCGA AGGGGCAGCGGTAGTGGCAGCGCCTCTGCTCTCAATGCAGCAGGTACCGGCGTCGGTAGTAATGCCACATCTTCCGAGGATTTTCCGCCT CCGTCGCTGCTTCAGCCGCCGCCCCCTGCAGCATCTTCTACGTCGGGACCACAGCCTCCGCCTCCACAAAGCCTGAACCTCCTTTCGCAG GCTCAGCTGCAGGCACAGCCTCTTGCGCCAGGCGGAACTCAAATGAAAAAGAAAAGTGGCTTCCAGATAACTAGCGTTACTCCTGCTCAG ATCTCCGCTAGTATCAGCTCTAACAACAGTATAGCAGAGGACACTGAGAGCTATGATGATCTGGATGAATCTCACACGGAAGATCTCTCT TCTTCGGAGATCCTTGATGTGTCACTTTCCAGGGCTACTGACTTAGGGGAGCCCGAACGCAGCTCCTCAGAAGAGACCCTAAATAACTTC CAGGAAGCCGAGACACCTGGGGCAGTCTCTCCCAACCAGCCCCACCTTCCTCAGCCTCATTTGCCTCACCTTCCACAACAGAATGTTGTG ATCAATGGGAATGCTCATCCACACCACCTCCATCACCACCATCAGATTCATCATGGGCACCACCTCCAACATGGTCACCACCATCCATCT CATGTTGCTGTGGCCAGTGCATCCATTACTGGTGGGCCACCCTCAAGCCCAGTATCTAGAAAACTCTCTACAACTGGAAGCTCTGACAGT ATCACACCAGTTGCACCAACTTCTGCTGTATCATCCAGTGGTTCACCTGCATCTGTAATGACTAATATGCGTGCTCCAAGTACTACAGGT GGAATAGGTATAAATTCTGTTACTGGCACTAGTACAGTAAATAATGTTAACATTACTGCTGTGGGTAGTTTTAATCCTAATGTGACAAGC AGCATGCTTGGTAATGTTAATATAAGTACAAGCAATATTCCTAGTGCTGCTGGTGTGAGTGTTGGGCCTGGAGTTACCAGTGGTGTTAAT GTGAATATCTTGAGTGGCATGGGCAATGGTACTATTTCTTCCTCTGCTGCTGTTAGCAGTGTTCCTAATGCAGCTGCAGGGATGACTGGG GGATCGGTTTCAAGTCAGCAGCAACAACCAACAGTTAACACTTCGAGGTTCAGAGTTGTGAAGTTAGATTCTAGTTCTGAGCCCTTTAAA AAAGGTAGATGGACTTGCACTGAGTTCTATGAAAAAGAAAATGCTGTACCTGCTACAGAAGGTGTGCTGATAAATAAAGTGGTGGAGACT GTAAAGCAAAATCCGATAGAAGTGACTTCTGAAAGGGAGAGCACTAGTGGGAGTTCAGTGAGCAGTAGTGTCAGCACACTGAGTCACTAT ACAGAGAGTGTGGGAAGTGGAGAGATGGGAGCCCCTACTGTGGTGGTGCAGCAGCAGCAGCAGCAACAACAACAACAACAGCAACAACCA GCTCTCCAAGGTGTGACCCTCCAACAGATGGATTTTGGTAGCACTGGTCCACAGAGTATTCCAGCAGTTAGTATACCACAGAGTATTTCT CAGTCACAGATCTCACAAGTACAATTACAGTCTCAAGAACTGAGCTATCAGCAAAAGCAAGGTCTTCAGCCAGTACCTCTGCAAGCCACT ATGAGTGCTGCAACTGGTATCCAGCCATCGCCTGTAAATGTGGTTGGTGTAACTTCAGCTTTAGGTCAGCAGCCTTCCATTTCCAGTTTG GCTCAACCCCAGCTACCATATTCTCAGGCGGCTCCTCCAGTGCAAACTCCCCTTCCAGGGGCACCACCACCCCAACAGTTACAGTATGGA CAACAGCAACCAATGGTTTCTACACAGATGGCCCCAGGCCATGTCAAATCAGTGACTCAAAATCCTGCTTCAGAGTATGTACAACAGCAG CCAATTCTTCAAACAGCAATGTCCTCCGGACAGCCCAGTTCTGCAGGAGTAGGAGCAGGAACAACAGTGATTCCTGTGGCTCAGCCACAG GGTATCCAGCTGCCAGTGCAGCCCACAGCAGTCCCAGCACAACCTGCAGGGGCATCTGTCCAGCCTGTTGGCCAGGCTCCGGCAGCAGTG TCTGCTGTACCTACTGGCAGTCAGATTGCAAATATTGGTCAGCAAGCAAACATACCTACTGCAGTGCAGCAGCCCTCTACCCAGGTTCCA CCTTCAGTTATTCAGCAGGGTGCTCCTCCATCTTCGCAAGTGGTTCCACCTGCTCAAACTGGGATTATTCATCAGGGAGTTCAAACTAGT GCTCCAAGCCTTCCTCAACAATTGGTTATTGCATCCCAAAGTTCCTTGTTAACTGTGCCTCCCCAGCCACAAGGAGTAGAACCAGTAGCT CAAGGAATTGTTTCACAGCAGTTGCCTGCAGTTAGTTCTTTGCCCTCTGCTAGTAGTATTTCTGTTACAAGTCAGGTTAGTTCAACTGGT CCTTCTGGAATGCCTTCTGCCCCAACAAACTTGGTTCCACCACAAAATATAGCACAAACCCCTGCTACCCAAAATGGTAATTTGGTTCAA AGTGTTAGTCAACCTCCCTTGATAGCAACTAATACAAATTTGCCTTTGGCACAACAGATACCACTAAGTTCTACCCAGTTCTCCGCACAA TCATTAGCTCAGGCAATTGGAAGCCAAATTGAAGATGCCAGGCGTGCAGCGGAGCCCTCCTTAGTTGGCTTACCTCAGACTATCAGTGGT GACAGTGGGGGAATGTCAGCAGTTTCAGATGGGAGTAGCAGCAGCCTAGCAGCCTCTGCTTCTCTTTTCCCGTTGAAGGTGCTACCGCTG ACGACACCCCTGGTGGATGGCGAGGATGAGAGCTGATTGCTGAGGAAGGGGTGGACAGCCTGAATGTCAAGGAGCTGCAGGCAGCGTGTC GGGCACGAGGCATGCGGGCCCTGGGCGTCACGGAAGACCGCCTGAGGGGTCAGCTGAAGCAGTGGCTGGACCTGCACCTGCATCAGGAGA TCCCCACATCGCTGCTCATCCTGTCCCGGGCCATGTACCTCCCGGACACCCTCTCTCCAGCCGACCAGCTCAAGTCCACACTGCAGACCC TCCCAGAGATTGTGGCAAAGGAAGCACAGGTGAAAGTGGCCGAGGTGGAGGGCGAGCAGGTGGACAACAAGGCCAAGCTGGAGGCCACGC TGCAGGAGGAGGCGGCCATCCAGCAGGAGCACCGTGAGAAGGAGCTGCAGAAGCGCTCGGAGGTGGCGAAGGATTTTGAGCCCGAACGTG TGGTAGCTGCTCCCCAAAGGCCGGGGACCGAGCCACAGCCAGAAATGCCTGACACAGTCCTGCAGTCAGAGACCTTGAAGGACACTGCCC CGGTGCTGGAGGGCTTGAAGGAGGAAGAGATCACGAAGGAGGAAATCGACATCCTCAGCGATGCCTGCTCTAAGCTGCAGGAGCAGAAGA AGTCACTCACCAAGGAGAAGGAGGAGCTGGAGCTGCTGAAGGAGGATGTGCAGGACTACAGCGAGGACTTGCAGGAGATCAAGAAGGAAC TTTCAAAGACTGGTGAAGAAAAGTACGTGGAAGAATCTAAAGCCAGCAAGAGATTGACAAAAAGGGTGCAGCAAATGATCGGGCAGATCG ATGGCTTGATCTCGCAGCTGGAGATGGACCAGCAGGCTGGCAAGCTGGCCCCGGCCAACGGCATGCCCACGGGGGAGAACGTCATCAGTG TCGCTGAGCTCATCAACGCCATGAAGCAAGTCAAGCACATTCCCGAAAGCAAGCTCACCAGCCTGGCCGCAGCACTGGATGAAAACAAGG ATGGCAAGGTCAACATCGACGACCTCGTCAAGGTGATTGAGCTGGTGGACAAAGAAGATGTTCACATCTCCACCAGCCAGGTGGCTGAGA TTGTAGCAACACTGGAAAAAGAGGAGAAGGTGGAGGAGAAGGAGAAGGCCAAAGAGAAGGCAGAGAAGGAGGTCGCAGAGGTGAAGAGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TSC22D1_ENST00000458659_chr13_45147299_-_LETM1_ENST00000302787_chr4_1827410_-_7488nt CCGGGGGTGGCGAGGGGAAGGCGACATTTGCTTGGCGCTGCCTCCGTGCAGAGCGGCCGGGAGGGCTTTGCAGCGGCCGCCGACGCGGCG GGAGGAGGGGGCTGAGGCGGCTTCGGAGTTGGCCGGAGAAGGTGGGCATTTCTCGCTTTTCCTCCCCTTCCTGCGCTCTCCCCCTCCCTC CTGCCCCGCACCCCACGTGAAGCAGAATATAAAGGGGGGTGTGAGGCTAGAGGGGAAAGTGAATGGCGAAGGACTGAAGGGATCCCCCCT TCGGGTCCCCGGCCGCCCTGTTCACCCTCGTTCATCCTCCTTTCCGAAGCTCGCTCTCGAAGGCAGGAGCGACCGGCGCCTTTGGCTGAG GAGGAGGAGAAGGAGGAATCGCGCCAGGCGGAGCGTCAGGTCCCGTTTTCCTCTCCGGCGTCTCCAATACAAAGATTACGGTGCAGAAGG AAATTGCACTCGTCTCCTCCGCGCCCCCGGTACCCAACACAATGCACCAGCCGCCTGAGTCCACCGCCGCGGCCGCCGCCGCTGCAGACA TTAGCGCTAGGAAGATGGCGCACCCGGCAATGTTCCCTCGAAGGGGCAGCGGTAGTGGCAGCGCCTCTGCTCTCAATGCAGCAGGTACCG GCGTCGGTAGTAATGCCACATCTTCCGAGGATTTTCCGCCTCCGTCGCTGCTTCAGCCGCCGCCCCCTGCAGCATCTTCTACGTCGGGAC CACAGCCTCCGCCTCCACAAAGCCTGAACCTCCTTTCGCAGGCTCAGCTGCAGGCACAGCCTCTTGCGCCAGGCGGAACTCAAATGAAAA AGAAAAGTGGCTTCCAGATAACTAGCGTTACTCCTGCTCAGATCTCCGCTAGTATCAGCTCTAACAACAGTATAGCAGAGGACACTGAGA GCTATGATGATCTGGATGAATCTCACACGGAAGATCTCTCTTCTTCGGAGATCCTTGATGTGTCACTTTCCAGGGCTACTGACTTAGGGG AGCCCGAACGCAGCTCCTCAGAAGAGACCCTAAATAACTTCCAGGAAGCCGAGACACCTGGGGCAGTCTCTCCCAACCAGCCCCACCTTC CTCAGCCTCATTTGCCTCACCTTCCACAACAGAATGTTGTGATCAATGGGAATGCTCATCCACACCACCTCCATCACCACCATCAGATTC ATCATGGGCACCACCTCCAACATGGTCACCACCATCCATCTCATGTTGCTGTGGCCAGTGCATCCATTACTGGTGGGCCACCCTCAAGCC CAGTATCTAGAAAACTCTCTACAACTGGAAGCTCTGACAGTATCACACCAGTTGCACCAACTTCTGCTGTATCATCCAGTGGTTCACCTG CATCTGTAATGACTAATATGCGTGCTCCAAGTACTACAGGTGGAATAGGTATAAATTCTGTTACTGGCACTAGTACAGTAAATAATGTTA ACATTACTGCTGTGGGTAGTTTTAATCCTAATGTGACAAGCAGCATGCTTGGTAATGTTAATATAAGTACAAGCAATATTCCTAGTGCTG CTGGTGTGAGTGTTGGGCCTGGAGTTACCAGTGGTGTTAATGTGAATATCTTGAGTGGCATGGGCAATGGTACTATTTCTTCCTCTGCTG CTGTTAGCAGTGTTCCTAATGCAGCTGCAGGGATGACTGGGGGATCGGTTTCAAGTCAGCAGCAACAACCAACAGTTAACACTTCGAGGT TCAGAGTTGTGAAGTTAGATTCTAGTTCTGAGCCCTTTAAAAAAGGTAGATGGACTTGCACTGAGTTCTATGAAAAAGAAAATGCTGTAC CTGCTACAGAAGGTGTGCTGATAAATAAAGTGGTGGAGACTGTAAAGCAAAATCCGATAGAAGTGACTTCTGAAAGGGAGAGCACTAGTG GGAGTTCAGTGAGCAGTAGTGTCAGCACACTGAGTCACTATACAGAGAGTGTGGGAAGTGGAGAGATGGGAGCCCCTACTGTGGTGGTGC AGCAGCAGCAGCAGCAACAACAACAACAACAGCAACAACCAGCTCTCCAAGGTGTGACCCTCCAACAGATGGATTTTGGTAGCACTGGTC CACAGAGTATTCCAGCAGTTAGTATACCACAGAGTATTTCTCAGTCACAGATCTCACAAGTACAATTACAGTCTCAAGAACTGAGCTATC AGCAAAAGCAAGGTCTTCAGCCAGTACCTCTGCAAGCCACTATGAGTGCTGCAACTGGTATCCAGCCATCGCCTGTAAATGTGGTTGGTG TAACTTCAGCTTTAGGTCAGCAGCCTTCCATTTCCAGTTTGGCTCAACCCCAGCTACCATATTCTCAGGCGGCTCCTCCAGTGCAAACTC CCCTTCCAGGGGCACCACCACCCCAACAGTTACAGTATGGACAACAGCAACCAATGGTTTCTACACAGATGGCCCCAGGCCATGTCAAAT CAGTGACTCAAAATCCTGCTTCAGAGTATGTACAACAGCAGCCAATTCTTCAAACAGCAATGTCCTCCGGACAGCCCAGTTCTGCAGGAG TAGGAGCAGGAACAACAGTGATTCCTGTGGCTCAGCCACAGGGTATCCAGCTGCCAGTGCAGCCCACAGCAGTCCCAGCACAACCTGCAG GGGCATCTGTCCAGCCTGTTGGCCAGGCTCCGGCAGCAGTGTCTGCTGTACCTACTGGCAGTCAGATTGCAAATATTGGTCAGCAAGCAA ACATACCTACTGCAGTGCAGCAGCCCTCTACCCAGGTTCCACCTTCAGTTATTCAGCAGGGTGCTCCTCCATCTTCGCAAGTGGTTCCAC CTGCTCAAACTGGGATTATTCATCAGGGAGTTCAAACTAGTGCTCCAAGCCTTCCTCAACAATTGGTTATTGCATCCCAAAGTTCCTTGT TAACTGTGCCTCCCCAGCCACAAGGAGTAGAACCAGTAGCTCAAGGAATTGTTTCACAGCAGTTGCCTGCAGTTAGTTCTTTGCCCTCTG CTAGTAGTATTTCTGTTACAAGTCAGGTTAGTTCAACTGGTCCTTCTGGAATGCCTTCTGCCCCAACAAACTTGGTTCCACCACAAAATA TAGCACAAACCCCTGCTACCCAAAATGGTAATTTGGTTCAAAGTGTTAGTCAACCTCCCTTGATAGCAACTAATACAAATTTGCCTTTGG CACAACAGATACCACTAAGTTCTACCCAGTTCTCCGCACAATCATTAGCTCAGGCAATTGGAAGCCAAATTGAAGATGCCAGGCGTGCAG CGGAGCCCTCCTTAGTTGGCTTACCTCAGACTATCAGTGGTGACAGTGGGGGAATGTCAGCAGTTTCAGATGGGAGTAGCAGCAGCCTAG CAGCCTCTGCTTCTCTTTTCCCGTTGAAGGTGCTACCGCTGACGACACCCCTGGTGGATGGCGAGGATGAGAGCTGATTGCTGAGGAAGG GGTGGACAGCCTGAATGTCAAGGAGCTGCAGGCAGCGTGTCGGGCACGAGGCATGCGGGCCCTGGGCGTCACGGAAGACCGCCTGAGGGG TCAGCTGAAGCAGTGGCTGGACCTGCACCTGCATCAGGAGATCCCCACATCGCTGCTCATCCTGTCCCGGGCCATGTACCTCCCGGACAC CCTCTCTCCAGCCGACCAGCTCAAGTCCACACTGCAGACCCTCCCAGAGATTGTGGCAAAGGAAGCACAGGTGAAAGTGGCCGAGGTGGA GGGCGAGCAGGTGGACAACAAGGCCAAGCTGGAGGCCACGCTGCAGGAGGAGGCGGCCATCCAGCAGGAGCACCGTGAGAAGGAGCTGCA GAAGCGCTCGGAGGTGGCGAAGGATTTTGAGCCCGAACGTGTGGTAGCTGCTCCCCAAAGGCCGGGGACCGAGCCACAGCCAGAAATGCC TGACACAGTCCTGCAGTCAGAGACCTTGAAGGACACTGCCCCGGTGCTGGAGGGCTTGAAGGAGGAAGAGATCACGAAGGAGGAAATCGA CATCCTCAGCGATGCCTGCTCTAAGCTGCAGGAGCAGAAGAAGTCACTCACCAAGGAGAAGGAGGAGCTGGAGCTGCTGAAGGAGGATGT GCAGGACTACAGCGAGGACTTGCAGGAGATCAAGAAGGAACTTTCAAAGACTGGTGAAGAAAAGTACGTGGAAGAATCTAAAGCCAGCAA GAGATTGACAAAAAGGGTGCAGCAAATGATCGGGCAGATCGATGGCTTGATCTCGCAGCTGGAGATGGACCAGCAGGCTGGCAAGCTGGC CCCGGCCAACGGCATGCCCACGGGGGAGAACGTCATCAGTGTCGCTGAGCTCATCAACGCCATGAAGCAAGTCAAGCACATTCCCGAAAG CAAGCTCACCAGCCTGGCCGCAGCACTGGATGAAAACAAGGATGGCAAGGTCAACATCGACGACCTCGTCAAGGTGATTGAGCTGGTGGA CAAAGAAGATGTTCACATCTCCACCAGCCAGGTGGCTGAGATTGTAGCAACACTGGAAAAAGAGGAGAAGGTGGAGGAGAAGGAGAAGGC CAAAGAGAAGGCAGAGAAGGAGGTCGCAGAGGTGAAGAGCTAGAACCACTGGCCTGGGCACCTGTCCTCCTGCTGTGCCGTCACCCTGGC AAGGGCCGTGAGGGCGATTGCTTTGTGGTGATTCTCAGTGGCTCATCTAATATTTTGGCTGGAATAAATCAGAGACTTCCATAATCAAGT AAATTTTAATTTTCATCATTCCACGGAGATTCAGTCTGTCTGGAATCCCGGAACCCCTCCACAGAATCGTGTCTGGATCCACACTGTGGT GTGGCTGCCACGGCCTCCTGGCTCCAGAGGCAGCTGGGCTGGGCCAAGGCAGGAAGGCGCCCCCATGTGTGTGGCCTCAGTCTCAGCATC TGACTGTGCTGCCCTGTCCCCAGGGAAGAGAATGAGGACCACGTGGACTCCGCCCACACAGAGCTGGCTGCTGTGCCCACCCTCAGGGGC GTCAGGAGACACAGCCTGGCCTCCTCAGGGCTGAAGATGCCTCCATTCGCCTGTGGACCTTGATTTCTAGATTTCAGTGTCAATAGACCT GTCTTCCTGCACACTTTCAGTTGGATGTGGGTCATTGTGGAGACAGAGGTGTCTGCCATCTCTGTGGCCTCTGGAGAGTGACGTCTCCCT GCTGGGAGTGCTGGTTCTCACGTGCGGTTTCCCTTGTGTATCGGAGCTCTTTCTCGGCTTTCTATTTCCCCCAGTTCTTTAAGCAGTCAA TTGGCACAGAGTTTCCCACGGGGGCTGCAGTGGATTCACTGTGTCAGGGATGAGCCTGGCTTGGGGGTTGGTGGGGCTCTGAAGCGCATT TGGGGTTCTTTGTAGCTTCTAATGTGAGGTTTGAGTCCAGTGCGCCCACAGCAGCATGCCCTTCTCACCCCTTGCAGTGTTGCAGGCTCA GGCCCCTGGGCTCCTTCAGCAAGCAGGCTAGTCAATGAGGCATGAGGATCCGGCACAGGGCATCCCCTGGGGCTTCAAGGGCAATACCCC CGTGCTTAGGGTTTGCCCTGTGCCCTCTGGGTGGGGTGGCCTCCCCGCACTCGGCAGCATGGCCAGGCTGGCCAGGGCGTGGGCAGGTGG TGTCCTGTGGCACCTCCATCCTCCTGCCCAGCCGGCTGTGTCACACTCATCTTTTTAAGGTCAGGTTGGTTCCTGGCAAAAATGTACCTC CAGGGGCCTCCAAGCATAGGATTTGGAAGACAGGAACGGCACAGGCGTCCAGGAAAGCAGCTGCACTCAGACAATGCCTTCTCCATTACT TGAAGCTTCTTTCTGTTCAGCCATTAAAGAAACTTGACAAAATAGGAACAGGAGATATTTCTCAATTGTAAACCTTTGTGCAGGGACAGT TGGCTTCCAGAGGCTTTCAGCTTTCAGTTATTTGAGAAGTTTGTTTTAGATCCTTAACTAATATTTATGAATTCTCTCACCCTGTGTAAG TAGCCTGGTGTTCGTTTGTCCAAGTGTACTTACCCTTGAGAACAAGTCTTGCAGTTGCCAGGTGTGTGCAGACGCCTCTCCTGTGAGCGG CATCGCGGGCCCAGTCAGCTGCCCCGGCTCTCATCCTCGTCCTCACTGCCTTGGCTGAGCACTGTTGACGTGAACAGCCACTGCAACAGG CAGCCCATCCCACTGTCCCCTCTGCCCTGGACTCCGCATGGCCTCCAAAAGCCAGCTTGCCCTCCGGGTGCTGCAGGGGCTTTGCAGGTG GGGAAGGCTCTGGTGGGTGCCTTTGGTGGCTTCCGTGACATCAGCCGTGCTCTGATGCAGGCTTGCTCCCTCGTCATTCTCCCTCGTCAT TCTCCCTCATCGTTCTGTGTGCATTTTTCTCTATGTCCTGACCTTTCTTCTTGCACCTAAAAGTGGTGTCTGGGTGCAAATGTAAGCAGT GGTGGATCCAGAAATATGAGCTTTGTGTAATAAGCTTCTTAAAACAGTCCTTTCTTACACCTGCCCAGGGCCAGACCCTCGGTCTTGGCC TTTTTCAGGAGCTAGGATATCTGCGCCTGGTGAAAATGAAACGAATTCCTGATTTAGGAATTCAGTGTTTCCTCCTCACTCCAGCTAAGC ACTCACTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCAC TGCAAGCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAATTGGGATTACAGGCATGCGCCACCATGCCCAGCTA ATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCCAGCTCCGCTT CCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCAGGACTACAAGCACCCGCCACCACACCTGGCTAATTTTTTTGTATTT TTATTAGAGACAGTGTTTTACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCTACTCACCTCGGCCTCCCAAAGTGCTGG GATTACGGGCAAGTTTTTATTAGAGATGGGGTTTCATCATGTTGGTCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCCACCCGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTGAACTCTCAGTTCTAACGCAGGGATTCAGGAATTGGGCTTT CAGACTCCTTCTGCAGTGTCACAGTCCAGACTTTTTTTAAATGAAGGACACCCCGCAGTGGCTCACAGTGGGTCCCAGGGCTAGCAGGAG CGTGCTGGGGAGCCGGCTCTGTCTTTGTTCGCAGTGGGTCCCGGTGCTGGCAGGAGTGTGCTGGTGAGCCGGCTCTGTCTTTGTAAATCC TTCAGGGGTCCTACGGCTGACTCCACCGGACAGCCCGTCCTGGGCCGTGTTAAGCACCTTTTGTAGAAATCGTATTTTTATTAAAACATC |
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FusionGenePPI for TSC22D1_LETM1 |
| 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 |
| TSC22D1 | GSTK1, DYNC1H1, EPPK1, BAG6, MTR, DNAAF5, GCN1L1, NDUFA9, IARS, NRBP1, NUP93, CDK2, SLC25A22, HNRNPM, EMC1, SFXN1, RPA3, COPB2, SRPRB, CORO2B, CCDC90B, ASAH1, RGS1, APLP1, MAP3K12, TSC22D1, SETDB1, WNK1, CACNA1A, TGFBR1, TGFBR2, SMAD6, SMAD7, ACVRL1, ACVR1, BMPR1A, ACVR1B, BMPR1B, SPRED1, A2M, SP110, EED, GNB2, RPL5, HMGXB4, FBN3, UNC119, OTUB1, MCM3AP, C14orf1, GNB5, FAM20C, PRKCI, DNMT3B, WIZ, TAF5L, UBE2D1, LRIF1, C9orf9, VIM, KMT2C, PDHB, DDAH2, CARHSP1, CHD3, QARS, WDR73, KMT2B, TLE1, CRMP1, NCOA5, ZC3HC1, FAF1, TP53, ALB, PTN, LARP7, CD2AP, IKBKAP, NUP50, SNRNP200, TTI1, WDYHV1, DHDH, CA10, TSC22D4, UNK, TSC22D3 | LETM1 | ICT1, TBK1, ILF3, C12orf57, SYNCRIP, LATS2, PSMA3, CYP1A1, NTRK1, NDUFA4, COQ9, PTPMT1, C15orf48, PPM1A, USP47, SNRNP27, PCDHGB4, HSD3B2, FGB, MRPS11, LYPD4, RNF19B, ATP6V0D1 |
| - 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 TSC22D1_LETM1 |
| 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 TSC22D1_LETM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TSC22D1 | C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human |
| Hgene | TSC22D1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | TSC22D1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | TSC22D1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | TSC22D1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | LETM1 | C0026827 | Muscle hypotonia | 1 | CTD_human;HPO |
| Tgene | LETM1 | C0036572 | Seizures | 1 | CTD_human;HPO |
| Tgene | LETM1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | LETM1 | C1956097 | Wolf-Hirschhorn Syndrome | 1 | CTD_human;ORPHANET |
| Tgene | LETM1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | LETM1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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