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Fusion gene ID: 33063 |
FusionGeneSummary for SEC31A_BCKDHB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEC31A_BCKDHB | Fusion gene ID: 33063 | Hgene | Tgene | Gene symbol | SEC31A | BCKDHB | Gene ID | 22872 | 594 |
| Gene name | SEC31 homolog A, COPII coat complex component | branched chain keto acid dehydrogenase E1 subunit beta | |
| Synonyms | ABP125|ABP130|HSPC275|HSPC334|SEC31L1 | BCKDE1B|BCKDH E1-beta|E1B | |
| Cytomap | 4q21.22 | 6q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein transport protein Sec31ASEC31 homolog A, COPII coating complex componentSEC31-like protein 1SEC31-related protein Aweb1-like proteinyeast Sec31p homolog | 2-oxoisovalerate dehydrogenase subunit beta, mitochondrialE1b-beta subunit of the branched-chain complexbranched chain alpha-ketoacid dehydrogenase E1-beta subunitbranched chain keto acid dehydrogenase E1, beta polypeptidebranched-chain alpha-keto aci | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O94979 | P21953 | |
| Ensembl transtripts involved in fusion gene | ENST00000348405, ENST00000513858, ENST00000395310, ENST00000443462, ENST00000509142, ENST00000326950, ENST00000432794, ENST00000311785, ENST00000448323, ENST00000505472, ENST00000500777, ENST00000508502, ENST00000355196, ENST00000264405, ENST00000505984, ENST00000508479, ENST00000436790, | ENST00000369760, ENST00000356489, ENST00000320393, ENST00000545529, ENST00000486968, | |
| Fusion gene scores | * DoF score | 15 X 14 X 8=1680 | 6 X 5 X 5=150 |
| # samples | 18 | 8 | |
| ** MAII score | log2(18/1680*10)=-3.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/150*10)=-0.906890595608519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEC31A [Title/Abstract] AND BCKDHB [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 |
| Hgene | SEC31A | GO:0051592 | response to calcium ion | 17196169 |
| Hgene | SEC31A | GO:0090110 | cargo loading into COPII-coated vesicle | 17499046|18843296 |
| 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 |
| ChiTaRS3.1 | AF161393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - | ||
| ChiTaRS3.1 | CR933696 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - | ||
| ChiTaRS3.1 | AF161452 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| * 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 |
| 5CDS-intron | ENST00000348405 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000348405 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000348405 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000348405 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000348405 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000513858 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000513858 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000513858 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000513858 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000513858 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000395310 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000395310 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000395310 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000395310 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000395310 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000443462 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000443462 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000443462 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000443462 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000443462 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000509142 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000509142 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000509142 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000509142 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000509142 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000326950 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000326950 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000326950 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000326950 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000326950 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000432794 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000432794 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000432794 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000432794 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000432794 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000311785 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000311785 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000311785 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000311785 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000311785 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000448323 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000448323 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000448323 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000448323 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| 5CDS-intron | ENST00000448323 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505472 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505472 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505472 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505472 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505472 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000500777 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000500777 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000500777 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000500777 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000500777 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508502 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508502 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508502 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508502 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508502 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000355196 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000355196 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000355196 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000355196 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000355196 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000264405 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000264405 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000264405 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000264405 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000264405 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505984 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505984 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505984 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505984 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000505984 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508479 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508479 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508479 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508479 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000508479 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000436790 | ENST00000369760 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000436790 | ENST00000356489 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000436790 | ENST00000320393 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000436790 | ENST00000545529 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
| intron-intron | ENST00000436790 | ENST00000486968 | SEC31A | chr4 | 83739814 | - | BCKDHB | chr6 | 80865576 | - |
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FusionProtFeatures for SEC31A_BCKDHB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEC31A | BCKDHB |
| The branched-chain alpha-keto dehydrogenase complexcatalyzes the overall conversion of alpha-keto acids to acyl-CoAand CO(2). It contains multiple copies of three enzymaticcomponents: branched-chain alpha-keto acid decarboxylase (E1),lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). |
| 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 SEC31A_BCKDHB |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SEC31A_BCKDHB |
| 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 |
| - 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 SEC31A_BCKDHB |
| 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 SEC31A_BCKDHB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SEC31A | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | BCKDHB | C0024776 | Maple Syrup Urine Disease | 3 | CTD_human;ORPHANET;UNIPROT |
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