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in Kim Lab

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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:BCKDHB-ME1 (FusionGDB2 ID:HG594TG4199)

Fusion Gene Summary for BCKDHB-ME1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCKDHB-ME1
Fusion gene ID: hg594tg4199
HgeneTgene
Gene symbol

BCKDHB

ME1

Gene ID

594

4199

Gene namebranched chain keto acid dehydrogenase E1 subunit betamalic enzyme 1
SynonymsBCKDE1B|BCKDH E1-beta|E1BHUMNDME|MES
Cytomap('BCKDHB')('ME1')

6q14.1

6q14.2

Type of geneprotein-codingprotein-coding
Description2-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 aciNADP-dependent malic enzymeMalic enzyme, cytoplasmicNADP-MEmalate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))malic enzyme 1, NADP(+)-dependent, cytosolicmalic enzyme 1, solublepyruvic-malic carboxylase
Modification date2020031320200329
UniProtAcc

P21953

P48163

Ensembl transtripts involved in fusion geneENST00000545529, ENST00000320393, 
ENST00000356489, ENST00000369760, 
ENST00000486968, 
Fusion gene scores* DoF score8 X 5 X 4=1603 X 2 X 3=18
# samples 83
** MAII scorelog2(8/160*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCKDHB [Title/Abstract] AND ME1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCKDHB(80912929)-ME1(84117620), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneME1

GO:0006108

malate metabolic process

7622060|8187880


check buttonFusion gene breakpoints across BCKDHB (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 ME1 (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
ChimerDB4PRADTCGA-EJ-7789-01ABCKDHBchr6

80912929

-ME1chr6

84117620

-
ChimerDB4PRADTCGA-EJ-7789-01ABCKDHBchr6

80912929

+ME1chr6

84117620

-


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Fusion Gene ORF analysis for BCKDHB-ME1

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
3UTR-3CDSENST00000545529ENST00000369705BCKDHBchr6

80912929

+ME1chr6

84117620

-
3UTR-intronENST00000545529ENST00000541327BCKDHBchr6

80912929

+ME1chr6

84117620

-
3UTR-intronENST00000545529ENST00000543031BCKDHBchr6

80912929

+ME1chr6

84117620

-
5CDS-intronENST00000320393ENST00000541327BCKDHBchr6

80912929

+ME1chr6

84117620

-
5CDS-intronENST00000320393ENST00000543031BCKDHBchr6

80912929

+ME1chr6

84117620

-
5CDS-intronENST00000356489ENST00000541327BCKDHBchr6

80912929

+ME1chr6

84117620

-
5CDS-intronENST00000356489ENST00000543031BCKDHBchr6

80912929

+ME1chr6

84117620

-
In-frameENST00000320393ENST00000369705BCKDHBchr6

80912929

+ME1chr6

84117620

-
In-frameENST00000356489ENST00000369705BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-3CDSENST00000369760ENST00000369705BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-3CDSENST00000486968ENST00000369705BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-intronENST00000369760ENST00000541327BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-intronENST00000369760ENST00000543031BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-intronENST00000486968ENST00000541327BCKDHBchr6

80912929

+ME1chr6

84117620

-
intron-intronENST00000486968ENST00000543031BCKDHBchr6

80912929

+ME1chr6

84117620

-

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)
ENST00000356489BCKDHBchr680912929+ENST00000369705ME1chr684117620-4174998472638863
ENST00000320393BCKDHBchr680912929+ENST00000369705ME1chr684117620-4174998472638863

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
ENST00000356489ENST00000369705BCKDHBchr680912929+ME1chr684117620-0.0004579390.9995421
ENST00000320393ENST00000369705BCKDHBchr680912929+ME1chr684117620-0.0004579390.9995421

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Fusion Genomic Features for BCKDHB-ME1


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 BCKDHB-ME1


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/chr6:80912929/chr6:84117620)
- 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
BCKDHB

P21953

ME1

P48163

FUNCTION: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

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
TgeneME1chr6:80912929chr6:84117620ENST00000369705014301_31826573.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for BCKDHB-ME1


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.
>9311_9311_1_BCKDHB-ME1_BCKDHB_chr6_80912929_ENST00000320393_ME1_chr6_84117620_ENST00000369705_length(transcript)=4174nt_BP=998nt
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

>9311_9311_1_BCKDHB-ME1_BCKDHB_chr6_80912929_ENST00000320393_ME1_chr6_84117620_ENST00000369705_length(amino acids)=863AA_BP=317
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPT
AVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGS
DVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKDLAFTLEERQQLNIHGLLPPSFNSQEIQVLRVVKNFEHLNSDF
DRYLLLMDLQDRNEKLFYRVLTSDIEKFMPIVYTPTVGLACQQYSLVFRKPRGLFITIHDRGHIASVLNAWPEDVIKAIVVTDGERILGL
GDLGCNGMGIPVGKLALYTACGGMNPQECLPVILDVGTENEELLKDPLYIGLRQRRVRGSEYDDFLDEFMEAVSSKYGMNCLIQFEDFAN
VNAFRLLNKYRNQYCTFNDDIQGTASVAVAGLLAALRITKNKLSDQTILFQGAGEAALGIAHLIVMALEKEGLPKEKAIKKIWLVDSKGL
IVKGRASLTQEKEKFAHEHEEMKNLEAIVQEIKPTALIGVAAIGGAFSEQILKDMAAFNERPIIFALSNPTSKAECSAEQCYKITKGRAI
FASGSPFDPVTLPNGQTLYPGQGNNSYVFPGVALGVVACGLRQITDNIFLTTAEVIAQQVSDKHLEEGRLYPPLNTIRDVSLKIAEKIVK

--------------------------------------------------------------
>9311_9311_2_BCKDHB-ME1_BCKDHB_chr6_80912929_ENST00000356489_ME1_chr6_84117620_ENST00000369705_length(transcript)=4174nt_BP=998nt
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

>9311_9311_2_BCKDHB-ME1_BCKDHB_chr6_80912929_ENST00000356489_ME1_chr6_84117620_ENST00000369705_length(amino acids)=863AA_BP=317
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPT
AVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGS
DVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKDLAFTLEERQQLNIHGLLPPSFNSQEIQVLRVVKNFEHLNSDF
DRYLLLMDLQDRNEKLFYRVLTSDIEKFMPIVYTPTVGLACQQYSLVFRKPRGLFITIHDRGHIASVLNAWPEDVIKAIVVTDGERILGL
GDLGCNGMGIPVGKLALYTACGGMNPQECLPVILDVGTENEELLKDPLYIGLRQRRVRGSEYDDFLDEFMEAVSSKYGMNCLIQFEDFAN
VNAFRLLNKYRNQYCTFNDDIQGTASVAVAGLLAALRITKNKLSDQTILFQGAGEAALGIAHLIVMALEKEGLPKEKAIKKIWLVDSKGL
IVKGRASLTQEKEKFAHEHEEMKNLEAIVQEIKPTALIGVAAIGGAFSEQILKDMAAFNERPIIFALSNPTSKAECSAEQCYKITKGRAI
FASGSPFDPVTLPNGQTLYPGQGNNSYVFPGVALGVVACGLRQITDNIFLTTAEVIAQQVSDKHLEEGRLYPPLNTIRDVSLKIAEKIVK

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Fusion Gene PPI Analysis for BCKDHB-ME1


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 BCKDHB-ME1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneME1P48163DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for BCKDHB-ME1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCKDHBC0024776Maple Syrup Urine Disease5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBCKDHBC2930990Maple syrup urine disease, type 1B1GENOMICS_ENGLAND
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human