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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SESN1-ECHDC1 (FusionGDB2 ID:HG27244TG55862)

Fusion Gene Summary for SESN1-ECHDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: SESN1-ECHDC1
Fusion gene ID: hg27244tg55862
HgeneTgene
Gene symbol

SESN1

ECHDC1

Gene ID

27244

55862

Gene namesestrin 1ethylmalonyl-CoA decarboxylase 1
SynonymsPA26|SEST1HEL-S-76|MMCD|dJ351K20.2
Cytomap('SESN1')('ECHDC1')

6q21

6q22.33

Type of geneprotein-codingprotein-coding
Descriptionsestrin-1p53 activated gene 26p53 regulated PA26 nuclear proteinethylmalonyl-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 date2020031320200313
UniProtAcc.

Q9NTX5

Ensembl transtripts involved in fusion geneENST00000436639, ENST00000517548, 
ENST00000302071, ENST00000356644, 
Fusion gene scores* DoF score9 X 4 X 8=2888 X 7 X 6=336
# samples 1011
** MAII scorelog2(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 breakpointSESN1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across SESN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across ECHDC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-97-8174-01ASESN1chr6

109414998

-ECHDC1chr6

127611422

-


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Fusion Gene ORF analysis for SESN1-ECHDC1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000436639ENST00000309620SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000368289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000368291SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000430841SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000454591SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000528402SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-3UTRENST00000436639ENST00000531967SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5CDS-5UTRENST00000436639ENST00000488087SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3CDSENST00000517548ENST00000454859SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3CDSENST00000517548ENST00000474289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000309620SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000368289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000368291SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000430841SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000454591SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000528402SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-3UTRENST00000517548ENST00000531967SESN1chr6

109414998

-ECHDC1chr6

127611422

-
5UTR-5UTRENST00000517548ENST00000488087SESN1chr6

109414998

-ECHDC1chr6

127611422

-
Frame-shiftENST00000436639ENST00000454859SESN1chr6

109414998

-ECHDC1chr6

127611422

-
In-frameENST00000436639ENST00000474289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3CDSENST00000302071ENST00000454859SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3CDSENST00000302071ENST00000474289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3CDSENST00000356644ENST00000454859SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3CDSENST00000356644ENST00000474289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000309620SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000368289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000368291SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000430841SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000454591SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000528402SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000302071ENST00000531967SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000309620SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000368289SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000368291SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000430841SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000454591SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000528402SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-3UTRENST00000356644ENST00000531967SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-5UTRENST00000302071ENST00000488087SESN1chr6

109414998

-ECHDC1chr6

127611422

-
intron-5UTRENST00000356644ENST00000488087SESN1chr6

109414998

-ECHDC1chr6

127611422

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000436639SESN1chr6109414998-ENST00000474289ECHDC1chr6127611422-258310256072202

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000436639ENST00000474289SESN1chr6109414998-ECHDC1chr6127611422-0.0139520310.986048

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Fusion Genomic Features for SESN1-ECHDC1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for SESN1-ECHDC1


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ECHDC1

Q9NTX5

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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSESN1chr6:109414998chr6:127611422ENST00000302071-110321_4920427.0RegionC-terminal domain%3B mediates TORC1 regulation
HgeneSESN1chr6:109414998chr6:127611422ENST00000302071-110386_3890427.0RegionLeucine-binding
HgeneSESN1chr6:109414998chr6:127611422ENST00000302071-11071_2520427.0RegionN-terminal domain%3B mediates the alkylhydroperoxide reductase activity
HgeneSESN1chr6:109414998chr6:127611422ENST00000356644-110321_4920493.0RegionC-terminal domain%3B mediates TORC1 regulation
HgeneSESN1chr6:109414998chr6:127611422ENST00000356644-110386_3890493.0RegionLeucine-binding
HgeneSESN1chr6:109414998chr6:127611422ENST00000356644-11071_2520493.0RegionN-terminal domain%3B mediates the alkylhydroperoxide reductase activity
HgeneSESN1chr6:109414998chr6:127611422ENST00000436639-110321_49293552.0RegionC-terminal domain%3B mediates TORC1 regulation
HgeneSESN1chr6:109414998chr6:127611422ENST00000436639-110386_38993552.0RegionLeucine-binding
HgeneSESN1chr6:109414998chr6:127611422ENST00000436639-11071_25293552.0RegionN-terminal domain%3B mediates the alkylhydroperoxide reductase activity


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Fusion Gene Sequence for SESN1-ECHDC1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>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

>80828_80828_1_SESN1-ECHDC1_SESN1_chr6_109414998_ENST00000436639_ECHDC1_chr6_127611422_ENST00000474289_length(amino acids)=202AA_BP=
MEPLVPSADLQARSPSHPLLVHERAVFFLEKQSLKVATLQRWLWWAENFGEAFSSVSRGQWISSRCGAVKSVLCPKRLLTAERPPAIRGF
FVCAATGFSPAFPPRPFSDTSPRPPQLLPAPQQPAGAGREGSPNPGPLAAAAGGLGAVGGRQSRAAVVSAGGGEKKRPPAPPIRHPREDA

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Fusion Gene PPI Analysis for SESN1-ECHDC1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for SESN1-ECHDC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SESN1-ECHDC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human