![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:SESN1-ECHDC1 (FusionGDB2 ID:HG27244TG55862) |
Fusion Gene Summary for SESN1-ECHDC1 |
![]() |
Fusion gene information | Fusion gene name: SESN1-ECHDC1 | Fusion gene ID: hg27244tg55862 | 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 | ('SESN1')('ECHDC1') 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 | 20200313 | 20200313 | |
UniProtAcc | . | Q9NTX5 | |
Ensembl transtripts involved in fusion gene | ENST00000436639, ENST00000517548, ENST00000302071, ENST00000356644, | ||
Fusion gene scores | * DoF score | 9 X 4 X 8=288 | 8 X 7 X 6=336 |
# samples | 10 | 11 | |
** MAII score | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/336*10)=-1.6109577092541 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] | ||
Most frequent breakpoint | SESN1(109414998)-ECHDC1(127611422), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | SESN1-ECHDC1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SESN1-ECHDC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LUAD | TCGA-97-8174-01A | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
Top |
Fusion Gene ORF analysis for SESN1-ECHDC1 |
![]() * 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 |
5CDS-3UTR | ENST00000436639 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5CDS-3UTR | ENST00000436639 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5CDS-3UTR | ENST00000436639 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5CDS-3UTR | ENST00000436639 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5CDS-3UTR | ENST00000436639 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5CDS-3UTR | ENST00000436639 | ENST00000528402 | 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 | - |
5UTR-3CDS | ENST00000517548 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3CDS | ENST00000517548 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
5UTR-3UTR | ENST00000517548 | ENST00000528402 | 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 | - |
Frame-shift | ENST00000436639 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
In-frame | ENST00000436639 | ENST00000474289 | 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-3CDS | ENST00000356644 | ENST00000454859 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3CDS | ENST00000356644 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000302071 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000309620 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000368289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000368291 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000430841 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000454591 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000528402 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-3UTR | ENST00000356644 | ENST00000531967 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-5UTR | ENST00000302071 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
intron-5UTR | ENST00000356644 | ENST00000488087 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000436639 | SESN1 | chr6 | 109414998 | - | ENST00000474289 | ECHDC1 | chr6 | 127611422 | - | 2583 | 1025 | 607 | 2 | 202 |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000436639 | ENST00000474289 | SESN1 | chr6 | 109414998 | - | ECHDC1 | chr6 | 127611422 | - | 0.013952031 | 0.986048 |
Top |
Fusion Genomic Features for SESN1-ECHDC1 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
![]() |
![]() |
Top |
Fusion Protein Features for SESN1-ECHDC1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:109414998/chr6:127611422) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
![]() |
![]() |
Hgene | Tgene |
. | ECHDC1 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity). {ECO:0000250|UniProtKB:Q9D9V3, ECO:0000269|PubMed:22016388}. |
![]() * 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 |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000302071 | - | 1 | 10 | 321_492 | 0 | 427.0 | Region | C-terminal domain%3B mediates TORC1 regulation |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000302071 | - | 1 | 10 | 386_389 | 0 | 427.0 | Region | Leucine-binding |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000302071 | - | 1 | 10 | 71_252 | 0 | 427.0 | Region | N-terminal domain%3B mediates the alkylhydroperoxide reductase activity |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000356644 | - | 1 | 10 | 321_492 | 0 | 493.0 | Region | C-terminal domain%3B mediates TORC1 regulation |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000356644 | - | 1 | 10 | 386_389 | 0 | 493.0 | Region | Leucine-binding |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000356644 | - | 1 | 10 | 71_252 | 0 | 493.0 | Region | N-terminal domain%3B mediates the alkylhydroperoxide reductase activity |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000436639 | - | 1 | 10 | 321_492 | 93 | 552.0 | Region | C-terminal domain%3B mediates TORC1 regulation |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000436639 | - | 1 | 10 | 386_389 | 93 | 552.0 | Region | Leucine-binding |
Hgene | SESN1 | chr6:109414998 | chr6:127611422 | ENST00000436639 | - | 1 | 10 | 71_252 | 93 | 552.0 | Region | N-terminal domain%3B mediates the alkylhydroperoxide reductase activity |
Top |
Fusion Gene Sequence for SESN1-ECHDC1 |
![]() |
>80828_80828_1_SESN1-ECHDC1_SESN1_chr6_109414998_ENST00000436639_ECHDC1_chr6_127611422_ENST00000474289_length(transcript)=2583nt_BP=1025nt 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 TGTGTCAACCCAATACTATTTGGCCATAGATGTAAAAACTACCAAATAAAAGTGGATTTTGTG >80828_80828_1_SESN1-ECHDC1_SESN1_chr6_109414998_ENST00000436639_ECHDC1_chr6_127611422_ENST00000474289_length(amino acids)=202AA_BP= MEPLVPSADLQARSPSHPLLVHERAVFFLEKQSLKVATLQRWLWWAENFGEAFSSVSRGQWISSRCGAVKSVLCPKRLLTAERPPAIRGF FVCAATGFSPAFPPRPFSDTSPRPPQLLPAPQQPAGAGREGSPNPGPLAAAAGGLGAVGGRQSRAAVVSAGGGEKKRPPAPPIRHPREDA TSPIPEPSPTTAEPEGTGRPWQ -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for SESN1-ECHDC1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for SESN1-ECHDC1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for SESN1-ECHDC1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0019193 | Hepatitis, Toxic | 1 | CTD_human | |
Tgene | C0025202 | melanoma | 1 | CTD_human | |
Tgene | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human | |
Tgene | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human | |
Tgene | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human | |
Tgene | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human | |
Tgene | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |