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Fusion gene ID: 33341 |
FusionGeneSummary for SESN1_ECHDC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SESN1_ECHDC1 | Fusion gene ID: 33341 | Hgene | Tgene | Gene symbol | SESN1 | ECHDC1 | Gene ID | 27244 | 55862 |
| Gene name | sestrin 1 | ethylmalonyl-CoA decarboxylase 1 | |
| Synonyms | PA26|SEST1 | HEL-S-76|MMCD|dJ351K20.2 | |
| Cytomap | 6q21 | 6q22.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sestrin-1p53 activated gene 26p53 regulated PA26 nuclear protein | ethylmalonyl-CoA decarboxylaseenoyl CoA hydratase domain containing 1enoyl Coenzyme A hydratase domain containing 1enoyl-CoA hydratase domain-containing protein 1epididymis secretory protein Li 76methylmalonyl-CoA decarboxylase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6P5 | Q9NTX5 | |
| Ensembl transtripts involved in fusion gene | ENST00000436639, ENST00000302071, ENST00000356644, ENST00000517548, | ENST00000454859, ENST00000474289, ENST00000528402, ENST00000454591, ENST00000368291, ENST00000309620, ENST00000430841, ENST00000368289, ENST00000531967, ENST00000488087, | |
| Fusion gene scores | * DoF score | 8 X 3 X 7=168 | 8 X 5 X 5=200 |
| # samples | 8 | 9 | |
| ** MAII score | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/200*10)=-1.15200309344505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SESN1 [Title/Abstract] AND ECHDC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| 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 | LUAD | TCGA-97-8174-01A | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| * 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 | ENST00000436639 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| In-frame | ENST00000436639 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-3UTR | ENST00000436639 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5CDS-5UTR | ENST00000436639 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3CDS | ENST00000302071 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3CDS | ENST00000302071 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000302071 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-5UTR | ENST00000302071 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3CDS | ENST00000356644 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3CDS | ENST00000356644 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-3UTR | ENST00000356644 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| intron-5UTR | ENST00000356644 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3CDS | ENST00000517548 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3CDS | ENST00000517548 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-3UTR | ENST00000517548 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
| 5UTR-5UTR | ENST00000517548 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
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FusionProtFeatures for SESN1_ECHDC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SESN1 | ECHDC1 |
| Functions as an intracellular leucine sensor thatnegatively regulates the TORC1 signaling pathway through the GATORcomplex. In absence of leucine, binds the GATOR subcomplex GATOR2and prevents TORC1 signaling. Binding of leucine to SESN2 disruptsits interaction with GATOR2 thereby activating the TORC1 signalingpathway (PubMed:25263562, PubMed:26449471). This stress-induciblemetabolic regulator may also play a role in protection againstoxidative and genotoxic stresses (By similarity). May positivelyregulate the transcription by NFE2L2 of genes involved in theresponse to oxidative stress by facilitating the SQSTM1-mediatedautophagic degradation of KEAP1 (PubMed:23274085). May have analkylhydroperoxide reductase activity born by the N-terminaldomain of the protein (By similarity). Was originally reported tocontribute to oxidative stress resistance by reducing PRDX1(PubMed:15105503). However, this could not be confirmed (Bysimilarity). {ECO:0000250|UniProtKB:P58004,ECO:0000269|PubMed:15105503, ECO:0000269|PubMed:23274085,ECO:0000269|PubMed:25263562, ECO:0000269|PubMed:26449471}. |
| 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 SESN1_ECHDC1 |
| 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_SESN1_ENST00000436639_chr6_109414998_-_ECHDC1_ENST00000474289_chr6_127611422_-_229aa MAEGENEVRWDGLCSRDSTTRETALENIRQTILRKTEYLRSVKETPHRPSDGLSNTESSDGLNKLLAHLLMLSKRCPFKDVREKSEFILK SIQVNDSREXDQIRPQRDGHNTKLGWHHPASXNNRKXTSSQSVEWGPXTGFKKCSKHRNGXRGLAVFRXNXISRRGTRMAKAIHPRATGS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SESN1_ENST00000436639_chr6_109414998_-_ECHDC1_ENST00000474289_chr6_127611422_-_688nt ATGGCTGAAGGAGAGAATGAAGTGAGATGGGATGGACTCTGCAGCAGAGATTCAACTACTAGGGAGACAGCATTGGAAAACATTAGGCAA ACCATTTTGAGGAAAACCGAGTATCTTCGTTCGGTGAAAGAAACACCTCATCGTCCATCAGACGGGCTTTCAAATACCGAGTCTTCGGAT GGGTTGAATAAGCTACTTGCTCATCTGCTTATGCTTTCTAAGAGGTGTCCCTTCAAAGATGTGAGAGAGAAAAGTGAGTTTATTCTGAAG AGCATCCAGGTTAATGACTCCAGAGAGTAAGATCAGATTCGTCCACAAAGAGATGGGCATAATACCAAGCTGGGGTGGCACCACCCGGCT AGTTGAAATAATCGGAAGTAGACAAGCTCTCAAAGTGTTGAGTGGGGCCCTTAAACTGGATTCAAAAAATGCTCTAAACATAGGAATGGT TGAAGAGGTCTTGCAGTCTTCAGATGAAACTAAATCTCTAGAAGAGGCACAAGAATGGCTAAAGCAATTCATCCAAGGGCCACCGGAAGT AATTAGAGCTTTGAAAAAATCTGTTTGTTCAGGCAGAGAGCTATATTTGGAGGAAGCATTACAGAACGAAAGAGATCTTTTAGGAACAGT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SESN1_ENST00000436639_chr6_109414998_-_ECHDC1_ENST00000474289_chr6_127611422_-_2583nt GATTGCCAGGGCCGCCCTGTGCCCTCTGGCTCGGCGGTGGTGGGCGAGGGCTCAGGGATCGGAGAAGTAGCGTCTTCCCGGGGGTGCCGA ATTGGCGGGGCTGGGGGACGCTTTTTTTCACCGCCGCCCGCCGAGACTACGGCTGCCCGAGACTGCCGCCCTCCGACAGCGCCCAAGCCT CCGGCCGCTGCGGCCAGTGGGCCAGGGTTCGGCGAGCCTTCCCTGCCGGCGCCGGCCGGCTGCTGAGGCGCTGGGAGGAGCTGCGGAGGG CGGGGACTGGTGTCGGAGAAGGGGCGGGGTGGGAACGCCGGAGAGAACCCGGTGGCTGCACAGACAAAAAAGCCCCGAATGGCTGGAGGG CGTTCAGCTGTTAACAGCCTTTTGGGGCAGAGCACGGATTTGACAGCTCCACAACGTGAGGATATCCACTGACCCCGCGAGACGGAGGAG AACGCTTCCCCGAAATTCTCTGCCCACCAAAGCCAGCGCTGCAAGGTTGCAACTTTCAAACTTTGTTTTTCCAGAAAGAAGACTGCCCTT TCGTGTACAAGGAGAGGGTGAGAGGGTGACCTAGCTTGTAGATCGGCTGAAGGCACCAGTGGTTCCAAATGTCACCCAGATGTGTGTTTT CATGACGATTTGATTTCTCTGATTTTATTTTTACATTTTTCATTTTAAAAATACAAAGCAATTTTTTTGGGGCATGCTGAAAGGTAACTG AAGACCGCAAAGGAAAAACTATTGTCATGGCTGAAGGAGAGAATGAAGTGAGATGGGATGGACTCTGCAGCAGAGATTCAACTACTAGGG AGACAGCATTGGAAAACATTAGGCAAACCATTTTGAGGAAAACCGAGTATCTTCGTTCGGTGAAAGAAACACCTCATCGTCCATCAGACG GGCTTTCAAATACCGAGTCTTCGGATGGGTTGAATAAGCTACTTGCTCATCTGCTTATGCTTTCTAAGAGGTGTCCCTTCAAAGATGTGA GAGAGAAAAGTGAGTTTATTCTGAAGAGCATCCAGGTTAATGACTCCAGAGAGTAAGATCAGATTCGTCCACAAAGAGATGGGCATAATA CCAAGCTGGGGTGGCACCACCCGGCTAGTTGAAATAATCGGAAGTAGACAAGCTCTCAAAGTGTTGAGTGGGGCCCTTAAACTGGATTCA AAAAATGCTCTAAACATAGGAATGGTTGAAGAGGTCTTGCAGTCTTCAGATGAAACTAAATCTCTAGAAGAGGCACAAGAATGGCTAAAG CAATTCATCCAAGGGCCACCGGAAGTAATTAGAGCTTTGAAAAAATCTGTTTGTTCAGGCAGAGAGCTATATTTGGAGGAAGCATTACAG AACGAAAGAGATCTTTTAGGAACAGTTTGGGGTGGGCCTGCAAATTTAGAGGCTATTGCTAAGAAAGGAAAATTTAATAAATAATTGGTT TTTCGTGTGGATGTACTCCAAGTAAAGCTCCAGTGACTAATATGTATAAATGTTAAATGATATTAAATATGAACATCAGAATTACTTTGA AGGCTACTATTAATATGCAGACTTACTTTTAATCATTTGAATATCTGAACTCATTTACCTCATTTCTTGCCAATTACTCACTTGGGTATT TACTGCGTAATCTGGAACATTTAGCTAAAATATACACTTTTGGCTTAAAAATTATTGCTGTCAATTCCAATAATAATTCTTAGCTTATAA CCAAAGAGCAGTGTTTAAAAGGAGAGCTTCTATACAAAACCTATTCCTGGCGTTACTTTTCATACAATTTTTGTTCTGTTTTACCTGGAA ATAATTTACCAAAATAACTGAGTGTTGCTGCTAAAGAACAAAAGTGGGGAGGTATCAGGGAACAAGAAAACAAGAAAGGGTATGATCAAT CATTTTCTTCTGCTCCAAACAGCTGGAGTAAAATTCATGGGAAATGGCCCTTCATTTAAAAAAAGATGTACCTCACTACCCACTACAAAT TTGGAACTTTGTTCTTTTCAATAATTAGTTTTCTATTGTAAATTACCTACTAAACAGTGGTAGCCATGACATGGAAAGTCAACTGATTCT ACAATTGGACATTCATTTGTGTGCCCTGGAATTTCCAACTAGTAATAAACAACTACTGTTGATGTAGTTTTAAACCACTTGAAGGGACTC ATGAAGCATCCTGCAACATAAATTTGCATTTTTACATCAGATTTCTTTTTTTTCCTGAAAAACAACTAACCTTCTAACAACTATCTTTCA AAAGTAAATGTAATAAAAATGCACAACATAAAATGTTTATGATCCCAGCAATACACTTTTTAAAAAATGTGAAAGTCAAAGAATTAAGTT CTAGTTCTGACTCATCACAAGAGGTCAAAAGTATTTGCTACTGTAACATTCAATTCACATTTGAGAATCATGGTAAAAATAACTTGCATT TGCCTTACCATCATGATCCTACTGTTGAGTTAGGAAAATATGGTTAGACAGACTCACATTACTTTTTTTCAGAGGTAAACTCTAGATTAC |
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FusionGenePPI for SESN1_ECHDC1 |
| 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 |
| SESN1 | PRDX1, SQSTM1, RBX1, KEAP1, NXF1 | ECHDC1 | APP, VKORC1, PNP, RMDN1, SCLT1, OXCT2, DUSP1, DUSP28, IL13RA2, SNAP47, GGA1 |
| - 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 SESN1_ECHDC1 |
| 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 SESN1_ECHDC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ECHDC1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | ECHDC1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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