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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33063

FusionGeneSummary for SEC31A_BCKDHB

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC31A_BCKDHB
Fusion gene ID: 33063
HgeneTgene
Gene symbol

SEC31A

BCKDHB

Gene ID

22872

594

Gene nameSEC31 homolog A, COPII coat complex componentbranched chain keto acid dehydrogenase E1 subunit beta
SynonymsABP125|ABP130|HSPC275|HSPC334|SEC31L1BCKDE1B|BCKDH E1-beta|E1B
Cytomap

4q21.22

6q14.1

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec31ASEC31 homolog A, COPII coating complex componentSEC31-like protein 1SEC31-related protein Aweb1-like proteinyeast Sec31p homolog2-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 date2018052320180523
UniProtAcc

O94979

P21953

Ensembl transtripts involved in fusion geneENST00000348405, 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 score15 X 14 X 8=16806 X 5 X 5=150
# samples 188
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSEC31A

GO:0051592

response to calcium ion

17196169

HgeneSEC31A

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AF161393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
ChiTaRS3.1CR933696SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
ChiTaRS3.1AF161452SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000348405ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000348405ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000348405ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000348405ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000348405ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000513858ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000513858ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000513858ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000513858ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000513858ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000395310ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000395310ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000395310ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000395310ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000395310ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000443462ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000443462ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000443462ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000443462ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000443462ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000509142ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000509142ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000509142ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000509142ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000509142ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000326950ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000326950ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000326950ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000326950ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000326950ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000432794ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000432794ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000432794ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000432794ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000432794ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000311785ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000311785ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000311785ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000311785ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000311785ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000448323ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000448323ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000448323ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000448323ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
5CDS-intronENST00000448323ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505472ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505472ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505472ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505472ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505472ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000500777ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000500777ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000500777ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000500777ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000500777ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508502ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508502ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508502ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508502ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508502ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000355196ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000355196ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000355196ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000355196ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000355196ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000264405ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000264405ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000264405ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000264405ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000264405ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505984ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505984ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505984ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505984ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000505984ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508479ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508479ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508479ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508479ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000508479ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000436790ENST00000369760SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000436790ENST00000356489SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000436790ENST00000320393SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000436790ENST00000545529SEC31Achr4

83739814

-BCKDHBchr6

80865576

-
intron-intronENST00000436790ENST00000486968SEC31Achr4

83739814

-BCKDHBchr6

80865576

-

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FusionProtFeatures for SEC31A_BCKDHB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEC31A

O94979

BCKDHB

P21953

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).

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


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FusionGeneSequence for SEC31A_BCKDHB


check button 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


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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RelatedDrugs for SEC31A_BCKDHB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SEC31A_BCKDHB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEC31AC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneBCKDHBC0024776Maple Syrup Urine Disease3CTD_human;ORPHANET;UNIPROT