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Fusion gene ID: 4002 |
FusionGeneSummary for BCKDHB_ME1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCKDHB_ME1 | Fusion gene ID: 4002 | Hgene | Tgene | Gene symbol | BCKDHB | ME1 | Gene ID | 594 | 4199 |
| Gene name | branched chain keto acid dehydrogenase E1 subunit beta | malic enzyme 1 | |
| Synonyms | BCKDE1B|BCKDH E1-beta|E1B | HUMNDME|MES | |
| Cytomap | 6q14.1 | 6q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | NADP-dependent malic enzymeMalic enzyme, cytoplasmicNADP-MEmalate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))malic enzyme 1, NADP(+)-dependent, cytosolicmalic enzyme 1, solublepyruvic-malic carboxylase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P21953 | P48163 | |
| Ensembl transtripts involved in fusion gene | ENST00000369760, ENST00000356489, ENST00000320393, ENST00000545529, ENST00000486968, | ENST00000369705, ENST00000541327, ENST00000543031, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BCKDHB [Title/Abstract] AND ME1 [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 |
| Tgene | ME1 | GO:0006108 | malate metabolic process | 7622060|8187880 |
| 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 | PRAD | TCGA-EJ-7789-01A | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| * 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 |
| intron-3CDS | ENST00000369760 | ENST00000369705 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| intron-intron | ENST00000369760 | ENST00000541327 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| intron-intron | ENST00000369760 | ENST00000543031 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| In-frame | ENST00000356489 | ENST00000369705 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 5CDS-intron | ENST00000356489 | ENST00000541327 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 5CDS-intron | ENST00000356489 | ENST00000543031 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| In-frame | ENST00000320393 | ENST00000369705 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 5CDS-intron | ENST00000320393 | ENST00000541327 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 5CDS-intron | ENST00000320393 | ENST00000543031 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 3UTR-3CDS | ENST00000545529 | ENST00000369705 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 3UTR-intron | ENST00000545529 | ENST00000541327 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| 3UTR-intron | ENST00000545529 | ENST00000543031 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| intron-3CDS | ENST00000486968 | ENST00000369705 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| intron-intron | ENST00000486968 | ENST00000541327 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
| intron-intron | ENST00000486968 | ENST00000543031 | BCKDHB | chr6 | 80912929 | + | ME1 | chr6 | 84117620 | - |
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FusionProtFeatures for BCKDHB_ME1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCKDHB | ME1 |
| 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 BCKDHB_ME1 |
| 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_BCKDHB_ENST00000356489_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_864aa MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPT AVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGS DVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKDLAFTLEERQQLNIHGLLPPSFNSQEIQVLRVVKNFEHLNSDF DRYLLLMDLQDRNEKLFYRVLTSDIEKFMPIVYTPTVGLACQQYSLVFRKPRGLFITIHDRGHIASVLNAWPEDVIKAIVVTDGERILGL GDLGCNGMGIPVGKLALYTACGGMNPQECLPVILDVGTENEELLKDPLYIGLRQRRVRGSEYDDFLDEFMEAVSSKYGMNCLIQFEDFAN VNAFRLLNKYRNQYCTFNDDIQGTASVAVAGLLAALRITKNKLSDQTILFQGAGEAALGIAHLIVMALEKEGLPKEKAIKKIWLVDSKGL IVKGRASLTQEKEKFAHEHEEMKNLEAIVQEIKPTALIGVAAIGGAFSEQILKDMAAFNERPIIFALSNPTSKAECSAEQCYKITKGRAI FASGSPFDPVTLPNGQTLYPGQGNNSYVFPGVALGVVACGLRQITDNIFLTTAEVIAQQVSDKHLEEGRLYPPLNTIRDVSLKIAEKIVK >In-frame_BCKDHB_ENST00000320393_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_864aa MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPT AVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGS DVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKDLAFTLEERQQLNIHGLLPPSFNSQEIQVLRVVKNFEHLNSDF DRYLLLMDLQDRNEKLFYRVLTSDIEKFMPIVYTPTVGLACQQYSLVFRKPRGLFITIHDRGHIASVLNAWPEDVIKAIVVTDGERILGL GDLGCNGMGIPVGKLALYTACGGMNPQECLPVILDVGTENEELLKDPLYIGLRQRRVRGSEYDDFLDEFMEAVSSKYGMNCLIQFEDFAN VNAFRLLNKYRNQYCTFNDDIQGTASVAVAGLLAALRITKNKLSDQTILFQGAGEAALGIAHLIVMALEKEGLPKEKAIKKIWLVDSKGL IVKGRASLTQEKEKFAHEHEEMKNLEAIVQEIKPTALIGVAAIGGAFSEQILKDMAAFNERPIIFALSNPTSKAECSAEQCYKITKGRAI FASGSPFDPVTLPNGQTLYPGQGNNSYVFPGVALGVVACGLRQITDNIFLTTAEVIAQQVSDKHLEEGRLYPPLNTIRDVSLKIAEKIVK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_BCKDHB_ENST00000356489_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_2592nt ATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGG CTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCG GAGCCCCGGGAGTACGGGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACT GCAGTAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAGAGTTTTT AATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCA GATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTC ACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATC AAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCT AAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAACCATACAACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGT GATGTTACTCTAGTTGCCTGGGGCACTCAGGTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAA GTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAGGACTTGGCCTTTACCCTGGAAGAGAGACAGCAATTGAAC ATTCATGGATTGTTGCCACCTTCCTTCAACAGTCAGGAGATCCAGGTTCTTAGAGTAGTAAAAAATTTCGAGCATCTGAACTCTGACTTT GACAGGTATCTTCTCTTAATGGATCTCCAAGATAGAAATGAAAAACTCTTTTATAGAGTGCTGACATCTGACATTGAGAAATTCATGCCT ATTGTTTATACTCCCACTGTGGGTCTGGCTTGCCAACAATATAGTTTGGTGTTTCGGAAGCCAAGAGGTCTCTTTATTACTATCCACGAT CGAGGGCATATTGCTTCAGTTCTCAATGCATGGCCAGAAGATGTCATCAAGGCCATTGTGGTGACTGATGGAGAGCGTATTCTTGGCTTG GGAGACCTTGGCTGTAATGGAATGGGCATCCCTGTGGGTAAATTGGCTCTATATACAGCTTGCGGAGGGATGAATCCTCAAGAATGTCTG CCTGTCATTCTGGATGTGGGAACCGAAAATGAGGAGTTACTTAAAGATCCACTCTACATTGGACTACGGCAGAGAAGAGTAAGAGGTTCT GAATATGATGATTTTTTGGACGAATTCATGGAGGCAGTTTCTTCCAAGTATGGCATGAATTGCCTTATTCAGTTTGAAGATTTTGCCAAT GTGAATGCATTTCGTCTCCTGAACAAGTATCGAAACCAGTATTGCACATTCAATGATGATATTCAAGGAACAGCATCTGTTGCAGTTGCA GGTCTCCTTGCAGCTCTTCGAATAACCAAGAACAAACTGTCTGATCAAACAATACTATTCCAAGGAGCTGGAGAGGCTGCCCTAGGGATT GCACACCTGATTGTGATGGCCTTGGAAAAAGAAGGTTTACCAAAAGAGAAAGCCATCAAAAAGATATGGCTGGTTGATTCAAAAGGATTA ATAGTTAAGGGACGTGCTTCCTTAACACAAGAGAAAGAGAAGTTTGCCCATGAACATGAAGAAATGAAGAACCTAGAAGCCATTGTTCAA GAAATAAAACCAACTGCCCTCATAGGAGTTGCTGCAATTGGTGGTGCATTCTCAGAACAAATTCTCAAAGATATGGCTGCCTTCAATGAA CGGCCTATTATTTTTGCTTTGAGTAATCCAACTAGCAAAGCAGAATGTTCTGCAGAGCAGTGCTACAAAATAACCAAGGGACGTGCAATT TTTGCCAGTGGCAGTCCTTTTGATCCAGTCACTCTTCCAAATGGACAGACCCTATATCCTGGCCAAGGCAACAATTCCTATGTGTTCCCT GGAGTTGCTCTTGGTGTTGTGGCGTGTGGATTGAGGCAGATCACAGATAATATTTTCCTCACTACTGCTGAGGTTATAGCTCAGCAAGTG TCAGATAAACACTTGGAAGAGGGTCGGCTTTATCCTCCTTTGAATACCATTAGAGATGTTTCTCTGAAAATTGCAGAAAAGATTGTGAAA GATGCATACCAAGAAAAGACAGCCACAGTTTATCCTGAACCGCAAAACAAAGAAGCATTTGTCCGCTCCCAGATGTATAGTACTGATTAT >In-frame_BCKDHB_ENST00000320393_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_2592nt ATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGG CTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCG GAGCCCCGGGAGTACGGGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACT GCAGTAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAGAGTTTTT AATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCA GATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTC ACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATC AAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCT AAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAACCATACAACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGT GATGTTACTCTAGTTGCCTGGGGCACTCAGGTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAA GTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAGGACTTGGCCTTTACCCTGGAAGAGAGACAGCAATTGAAC ATTCATGGATTGTTGCCACCTTCCTTCAACAGTCAGGAGATCCAGGTTCTTAGAGTAGTAAAAAATTTCGAGCATCTGAACTCTGACTTT GACAGGTATCTTCTCTTAATGGATCTCCAAGATAGAAATGAAAAACTCTTTTATAGAGTGCTGACATCTGACATTGAGAAATTCATGCCT ATTGTTTATACTCCCACTGTGGGTCTGGCTTGCCAACAATATAGTTTGGTGTTTCGGAAGCCAAGAGGTCTCTTTATTACTATCCACGAT CGAGGGCATATTGCTTCAGTTCTCAATGCATGGCCAGAAGATGTCATCAAGGCCATTGTGGTGACTGATGGAGAGCGTATTCTTGGCTTG GGAGACCTTGGCTGTAATGGAATGGGCATCCCTGTGGGTAAATTGGCTCTATATACAGCTTGCGGAGGGATGAATCCTCAAGAATGTCTG CCTGTCATTCTGGATGTGGGAACCGAAAATGAGGAGTTACTTAAAGATCCACTCTACATTGGACTACGGCAGAGAAGAGTAAGAGGTTCT GAATATGATGATTTTTTGGACGAATTCATGGAGGCAGTTTCTTCCAAGTATGGCATGAATTGCCTTATTCAGTTTGAAGATTTTGCCAAT GTGAATGCATTTCGTCTCCTGAACAAGTATCGAAACCAGTATTGCACATTCAATGATGATATTCAAGGAACAGCATCTGTTGCAGTTGCA GGTCTCCTTGCAGCTCTTCGAATAACCAAGAACAAACTGTCTGATCAAACAATACTATTCCAAGGAGCTGGAGAGGCTGCCCTAGGGATT GCACACCTGATTGTGATGGCCTTGGAAAAAGAAGGTTTACCAAAAGAGAAAGCCATCAAAAAGATATGGCTGGTTGATTCAAAAGGATTA ATAGTTAAGGGACGTGCTTCCTTAACACAAGAGAAAGAGAAGTTTGCCCATGAACATGAAGAAATGAAGAACCTAGAAGCCATTGTTCAA GAAATAAAACCAACTGCCCTCATAGGAGTTGCTGCAATTGGTGGTGCATTCTCAGAACAAATTCTCAAAGATATGGCTGCCTTCAATGAA CGGCCTATTATTTTTGCTTTGAGTAATCCAACTAGCAAAGCAGAATGTTCTGCAGAGCAGTGCTACAAAATAACCAAGGGACGTGCAATT TTTGCCAGTGGCAGTCCTTTTGATCCAGTCACTCTTCCAAATGGACAGACCCTATATCCTGGCCAAGGCAACAATTCCTATGTGTTCCCT GGAGTTGCTCTTGGTGTTGTGGCGTGTGGATTGAGGCAGATCACAGATAATATTTTCCTCACTACTGCTGAGGTTATAGCTCAGCAAGTG TCAGATAAACACTTGGAAGAGGGTCGGCTTTATCCTCCTTTGAATACCATTAGAGATGTTTCTCTGAAAATTGCAGAAAAGATTGTGAAA GATGCATACCAAGAAAAGACAGCCACAGTTTATCCTGAACCGCAAAACAAAGAAGCATTTGTCCGCTCCCAGATGTATAGTACTGATTAT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_BCKDHB_ENST00000356489_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_4174nt AGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCA GGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATG CGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACGGGCAAACTCAGAAAATGAATCTTTTCC AGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTA GATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCG GAATTGCGGTCACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAGCTG CCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCT ATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTC TTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCTAAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAAC CATACAACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAGGTTCATGTGATCC GAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAAGTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAA TTTGTAAGGACTTGGCCTTTACCCTGGAAGAGAGACAGCAATTGAACATTCATGGATTGTTGCCACCTTCCTTCAACAGTCAGGAGATCC AGGTTCTTAGAGTAGTAAAAAATTTCGAGCATCTGAACTCTGACTTTGACAGGTATCTTCTCTTAATGGATCTCCAAGATAGAAATGAAA AACTCTTTTATAGAGTGCTGACATCTGACATTGAGAAATTCATGCCTATTGTTTATACTCCCACTGTGGGTCTGGCTTGCCAACAATATA GTTTGGTGTTTCGGAAGCCAAGAGGTCTCTTTATTACTATCCACGATCGAGGGCATATTGCTTCAGTTCTCAATGCATGGCCAGAAGATG TCATCAAGGCCATTGTGGTGACTGATGGAGAGCGTATTCTTGGCTTGGGAGACCTTGGCTGTAATGGAATGGGCATCCCTGTGGGTAAAT TGGCTCTATATACAGCTTGCGGAGGGATGAATCCTCAAGAATGTCTGCCTGTCATTCTGGATGTGGGAACCGAAAATGAGGAGTTACTTA AAGATCCACTCTACATTGGACTACGGCAGAGAAGAGTAAGAGGTTCTGAATATGATGATTTTTTGGACGAATTCATGGAGGCAGTTTCTT CCAAGTATGGCATGAATTGCCTTATTCAGTTTGAAGATTTTGCCAATGTGAATGCATTTCGTCTCCTGAACAAGTATCGAAACCAGTATT GCACATTCAATGATGATATTCAAGGAACAGCATCTGTTGCAGTTGCAGGTCTCCTTGCAGCTCTTCGAATAACCAAGAACAAACTGTCTG ATCAAACAATACTATTCCAAGGAGCTGGAGAGGCTGCCCTAGGGATTGCACACCTGATTGTGATGGCCTTGGAAAAAGAAGGTTTACCAA AAGAGAAAGCCATCAAAAAGATATGGCTGGTTGATTCAAAAGGATTAATAGTTAAGGGACGTGCTTCCTTAACACAAGAGAAAGAGAAGT TTGCCCATGAACATGAAGAAATGAAGAACCTAGAAGCCATTGTTCAAGAAATAAAACCAACTGCCCTCATAGGAGTTGCTGCAATTGGTG GTGCATTCTCAGAACAAATTCTCAAAGATATGGCTGCCTTCAATGAACGGCCTATTATTTTTGCTTTGAGTAATCCAACTAGCAAAGCAG AATGTTCTGCAGAGCAGTGCTACAAAATAACCAAGGGACGTGCAATTTTTGCCAGTGGCAGTCCTTTTGATCCAGTCACTCTTCCAAATG GACAGACCCTATATCCTGGCCAAGGCAACAATTCCTATGTGTTCCCTGGAGTTGCTCTTGGTGTTGTGGCGTGTGGATTGAGGCAGATCA CAGATAATATTTTCCTCACTACTGCTGAGGTTATAGCTCAGCAAGTGTCAGATAAACACTTGGAAGAGGGTCGGCTTTATCCTCCTTTGA ATACCATTAGAGATGTTTCTCTGAAAATTGCAGAAAAGATTGTGAAAGATGCATACCAAGAAAAGACAGCCACAGTTTATCCTGAACCGC AAAACAAAGAAGCATTTGTCCGCTCCCAGATGTATAGTACTGATTATGACCAGATTCTACCTGATTGTTATTCTTGGCCTGAAGAGGTGC AGAAAATACAGACCAAAGTTGACCAGTAGGATAATAGCAAACATTTCTAACTCTATTAATGAGGTCTTTAAACCTTTCATAATTTTTAAA GGTTGGAATCTTTTATAATGATTCATAAGACACTTAGATTAAGATTTTACTTTAACAGTCTAAAAATTGATAGAAGAATATCGATATAAA TTGGGATAAACATCACATGAGACAATTTTGCTTCACTTTGCCTTCTGGTTATTTATGGTTTCTGTCTGAATTATTCTGCCTACGTTCTCT TTAAAAGCTGTTGTACGTACTACGGAGAAACTCATCATTTTTATACAGGACACTAATGGGAAGACCAAAATTACTAATAAATTGACATAA CCAACATTAAAACTCATAATTATTTTGTTGACCATTTTGTTAAAATCTACTTTTCAAAAAAAAAAAGCTAGAAATGAATCTAGGCGTAGG TGAACTTTTGCTAAGCAGAAATAACACTACTTTGTTGCCTAGAGAAAGATAACTTCTCAAGTATTTTTATTCCAGTCCTAGATCATATAT GTTCTTTTGTGCAACGGAATTCTAACAGTTCTAAGAGAAAGATCACTGCTGTTTACAGCGCCTTGTGCAGCCTTAGATTTTAATATTCTT TTGTCATTGTTACATCTCATAGAGTAAAGCTCTTATTACCTTGATCCTGAGTCAGAAATCCCACCTGAAATCACCTTTTTTCCCCCTTGA TCAAACATCCCATCCTTCAGCTACCATACTGTTGCTACAGGGATTTTGTGGACTGTGGCCCCTGTCCTGAGGTTGGCACCTTCAGTTCAG CACAGCCTGAGCAGTGAGAAGGTCTGAAAGGAGAGTATATAGTTAAGATCCTTGAGAAAGGGCTGCCTGAGGAACTGACCTCTTAAAGAT CTCAGGATCTTTAAGACAACAAGTTAGGTTCCTACTGGAGTTACCTGCCAGAATGGCCTCTTAATTAACTCAGGTAATGAAGAGCTAACT GTGTTATAATCATCTTGCTTTTGCCTGAATTTGGAGAAAGTATTATAATTAAGTTCCCAGTATCAGAAATGTCCTTACATAAGATTAAAA TATCTTGATGACTAATACCATTCTATGAGAAAGAGTAGTTATATGCCCAGACTGTATTAATTTACTTTAGAAACTAATGTTTGAAGTAAT GGAAAAAATTTTAAATTATAAAGCTAAGGTGCAATAACATTTGCTACTTATTTATAGAATTATTTGAAGAATTTTGTTTTTGAAGTAATG CTTTAAGGAGTATAAGATATTCAAGATAAATTATACTATAAAATGATTTTATTGAAAGTTGAAGGTTACACAAATTGTTTTAGGTATGAG CAGAAGAGGTTAAGGTATTTCTAAAGGTAACATATAGTCAAGAGTTTCCTCAAAATAGTTATTTGGAGAAGAATCAGAATGTCTGTGTAT TTCTTGTCTGTTTCTATGTTGTCTTATAGCTCTGACTAAATGTGTTTACCTATGCAAAAGATTTATTAAAGCATAGAAAAGGTGAATGAA >In-frame_BCKDHB_ENST00000320393_chr6_80912929_+_ME1_ENST00000369705_chr6_84117620_-_4174nt AGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCA GGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATG CGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACGGGCAAACTCAGAAAATGAATCTTTTCC AGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTA GATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCG GAATTGCGGTCACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAGCTG CCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCT ATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTC TTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCTAAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAAC CATACAACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAGGTTCATGTGATCC GAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAAGTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAA TTTGTAAGGACTTGGCCTTTACCCTGGAAGAGAGACAGCAATTGAACATTCATGGATTGTTGCCACCTTCCTTCAACAGTCAGGAGATCC AGGTTCTTAGAGTAGTAAAAAATTTCGAGCATCTGAACTCTGACTTTGACAGGTATCTTCTCTTAATGGATCTCCAAGATAGAAATGAAA AACTCTTTTATAGAGTGCTGACATCTGACATTGAGAAATTCATGCCTATTGTTTATACTCCCACTGTGGGTCTGGCTTGCCAACAATATA GTTTGGTGTTTCGGAAGCCAAGAGGTCTCTTTATTACTATCCACGATCGAGGGCATATTGCTTCAGTTCTCAATGCATGGCCAGAAGATG TCATCAAGGCCATTGTGGTGACTGATGGAGAGCGTATTCTTGGCTTGGGAGACCTTGGCTGTAATGGAATGGGCATCCCTGTGGGTAAAT TGGCTCTATATACAGCTTGCGGAGGGATGAATCCTCAAGAATGTCTGCCTGTCATTCTGGATGTGGGAACCGAAAATGAGGAGTTACTTA AAGATCCACTCTACATTGGACTACGGCAGAGAAGAGTAAGAGGTTCTGAATATGATGATTTTTTGGACGAATTCATGGAGGCAGTTTCTT CCAAGTATGGCATGAATTGCCTTATTCAGTTTGAAGATTTTGCCAATGTGAATGCATTTCGTCTCCTGAACAAGTATCGAAACCAGTATT GCACATTCAATGATGATATTCAAGGAACAGCATCTGTTGCAGTTGCAGGTCTCCTTGCAGCTCTTCGAATAACCAAGAACAAACTGTCTG ATCAAACAATACTATTCCAAGGAGCTGGAGAGGCTGCCCTAGGGATTGCACACCTGATTGTGATGGCCTTGGAAAAAGAAGGTTTACCAA AAGAGAAAGCCATCAAAAAGATATGGCTGGTTGATTCAAAAGGATTAATAGTTAAGGGACGTGCTTCCTTAACACAAGAGAAAGAGAAGT TTGCCCATGAACATGAAGAAATGAAGAACCTAGAAGCCATTGTTCAAGAAATAAAACCAACTGCCCTCATAGGAGTTGCTGCAATTGGTG GTGCATTCTCAGAACAAATTCTCAAAGATATGGCTGCCTTCAATGAACGGCCTATTATTTTTGCTTTGAGTAATCCAACTAGCAAAGCAG AATGTTCTGCAGAGCAGTGCTACAAAATAACCAAGGGACGTGCAATTTTTGCCAGTGGCAGTCCTTTTGATCCAGTCACTCTTCCAAATG GACAGACCCTATATCCTGGCCAAGGCAACAATTCCTATGTGTTCCCTGGAGTTGCTCTTGGTGTTGTGGCGTGTGGATTGAGGCAGATCA CAGATAATATTTTCCTCACTACTGCTGAGGTTATAGCTCAGCAAGTGTCAGATAAACACTTGGAAGAGGGTCGGCTTTATCCTCCTTTGA ATACCATTAGAGATGTTTCTCTGAAAATTGCAGAAAAGATTGTGAAAGATGCATACCAAGAAAAGACAGCCACAGTTTATCCTGAACCGC AAAACAAAGAAGCATTTGTCCGCTCCCAGATGTATAGTACTGATTATGACCAGATTCTACCTGATTGTTATTCTTGGCCTGAAGAGGTGC AGAAAATACAGACCAAAGTTGACCAGTAGGATAATAGCAAACATTTCTAACTCTATTAATGAGGTCTTTAAACCTTTCATAATTTTTAAA GGTTGGAATCTTTTATAATGATTCATAAGACACTTAGATTAAGATTTTACTTTAACAGTCTAAAAATTGATAGAAGAATATCGATATAAA TTGGGATAAACATCACATGAGACAATTTTGCTTCACTTTGCCTTCTGGTTATTTATGGTTTCTGTCTGAATTATTCTGCCTACGTTCTCT TTAAAAGCTGTTGTACGTACTACGGAGAAACTCATCATTTTTATACAGGACACTAATGGGAAGACCAAAATTACTAATAAATTGACATAA CCAACATTAAAACTCATAATTATTTTGTTGACCATTTTGTTAAAATCTACTTTTCAAAAAAAAAAAGCTAGAAATGAATCTAGGCGTAGG TGAACTTTTGCTAAGCAGAAATAACACTACTTTGTTGCCTAGAGAAAGATAACTTCTCAAGTATTTTTATTCCAGTCCTAGATCATATAT GTTCTTTTGTGCAACGGAATTCTAACAGTTCTAAGAGAAAGATCACTGCTGTTTACAGCGCCTTGTGCAGCCTTAGATTTTAATATTCTT TTGTCATTGTTACATCTCATAGAGTAAAGCTCTTATTACCTTGATCCTGAGTCAGAAATCCCACCTGAAATCACCTTTTTTCCCCCTTGA TCAAACATCCCATCCTTCAGCTACCATACTGTTGCTACAGGGATTTTGTGGACTGTGGCCCCTGTCCTGAGGTTGGCACCTTCAGTTCAG CACAGCCTGAGCAGTGAGAAGGTCTGAAAGGAGAGTATATAGTTAAGATCCTTGAGAAAGGGCTGCCTGAGGAACTGACCTCTTAAAGAT CTCAGGATCTTTAAGACAACAAGTTAGGTTCCTACTGGAGTTACCTGCCAGAATGGCCTCTTAATTAACTCAGGTAATGAAGAGCTAACT GTGTTATAATCATCTTGCTTTTGCCTGAATTTGGAGAAAGTATTATAATTAAGTTCCCAGTATCAGAAATGTCCTTACATAAGATTAAAA TATCTTGATGACTAATACCATTCTATGAGAAAGAGTAGTTATATGCCCAGACTGTATTAATTTACTTTAGAAACTAATGTTTGAAGTAAT GGAAAAAATTTTAAATTATAAAGCTAAGGTGCAATAACATTTGCTACTTATTTATAGAATTATTTGAAGAATTTTGTTTTTGAAGTAATG CTTTAAGGAGTATAAGATATTCAAGATAAATTATACTATAAAATGATTTTATTGAAAGTTGAAGGTTACACAAATTGTTTTAGGTATGAG CAGAAGAGGTTAAGGTATTTCTAAAGGTAACATATAGTCAAGAGTTTCCTCAAAATAGTTATTTGGAGAAGAATCAGAATGTCTGTGTAT TTCTTGTCTGTTTCTATGTTGTCTTATAGCTCTGACTAAATGTGTTTACCTATGCAAAAGATTTATTAAAGCATAGAAAAGGTGAATGAA |
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FusionGenePPI for BCKDHB_ME1 |
| 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 |
| BCKDHB | CUL3, PPM1K, POLB, HDAC6, FAF2, DBT, ZNF785, LRP1, TCF25, BCKDHA, LARS2, POLL | ME1 | CTTN, BOP1, CUL3, GARS, GORASP2, GTF2A1, RPUSD2, TOM1, UGDH, VTA1, NMI, TBCD, EFNB2, NFYA, GSTK1, GPX4, PKM, STIP1, MSN, PREP, PTPN7, FCF1, VAC14, ZSCAN12, CDK15, FTH1, OAZ3, NPPA, LYPD4, FCRL5 |
| - 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 BCKDHB_ME1 |
| 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 BCKDHB_ME1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCKDHB | C0024776 | Maple Syrup Urine Disease | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ME1 | C0028754 | Obesity | 1 | CTD_human |
| Tgene | ME1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | ME1 | C2239176 | Liver carcinoma | 1 | CTD_human |
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