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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: 4577

FusionGeneSummary for BUB1B_EIF2AK4

check button Fusion gene summary
Fusion gene informationFusion gene name: BUB1B_EIF2AK4
Fusion gene ID: 4577
HgeneTgene
Gene symbol

BUB1B

EIF2AK4

Gene ID

701

440275

Gene nameBUB1 mitotic checkpoint serine/threonine kinase Beukaryotic translation initiation factor 2 alpha kinase 4
SynonymsBUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1GCN2|PVOD2
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionmitotic checkpoint serine/threonine-protein kinase BUB1 betaBUB1B, mitotic checkpoint serine/threonine kinaseMAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3LeIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2
Modification date2018052320180523
UniProtAcc

O60566

Q9P2K8

Ensembl transtripts involved in fusion geneENST00000287598, ENST00000412359, 
ENST00000560120, 
ENST00000559624, 
ENST00000382727, ENST00000263791, 
ENST00000560648, ENST00000559311, 
Fusion gene scores* DoF score2 X 3 X 3=184 X 6 X 4=96
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/96*10)=-0.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BUB1B [Title/Abstract] AND EIF2AK4 [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

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
TCGARVBRCATCGA-AO-A128-01ABUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
TCGARVUCSTCGA-N8-A56S-01ABUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
* 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-intronENST00000287598ENST00000559624BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000559624BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000382727BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000263791BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000560648BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000559311BUB1Bchr15

40468874

+EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000559624BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000382727BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000263791BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000560648BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000559311BUB1Bchr15

40510763

+EIF2AK4chr15

40278006

+

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FusionProtFeatures for BUB1B_EIF2AK4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BUB1B

O60566

EIF2AK4

Q9P2K8


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 BUB1B_EIF2AK4


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 BUB1B_EIF2AK4


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
BUB1BHDAC1, BRCA2, SNCG, CDC20, BUB3, MAD2L1, CENPE, AP2B1, APC, CDC27, CDC16, ANAPC7, UBE2C, PARP1, KAT2B, ANAPC4, BUB1, MIS12, ZWINT, BUB1B, NSL1, DNMBP, MXI1, MDM2, MAD2L1BP, PLK1, TUBB, CASC5, TP73, AJUBA, AURKB, PLK3, PTTG1, SGOL1, DAXX, FZR1, TRIM33, COMMD4, GANAB, PRKCSH, PNMA2, UGP2, TRIP13, SUMO1, ANAPC1, ANAPC2, BAG2, DSN1, ZFC3H1, CCT2, EEF2, HSPB1, HSPH1, NDC80, NUF2, PMF1, PSMA3, PSMA4, PSMA6, PSMB5, PSMD6, RPL39, SKIV2L2, RAE1, UBR5, CCNA2, FBXW7, BTRC, MED4, XPO1, CD14, CDC23, SMEK1, CERK, ANAPC10, NEK2, SNW1, CDC5L, PPP2R5A, TYW3, HDAC2, HDAC3EIF2AK4USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1


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 BUB1B_EIF2AK4


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 BUB1B_EIF2AK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBUB1BC0018273Growth Disorders1CTD_human
HgeneBUB1BC0025958Microcephaly1CTD_human
HgeneBUB1BC0206656Rhabdomyosarcoma, Embryonal1CTD_human
HgeneBUB1BC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneBUB1BC1850343MOSAIC VARIEGATED ANEUPLOIDY SYNDROME1CTD_human;ORPHANET;UNIPROT
HgeneBUB1BC1864389PREMATURE CHROMATID SEPARATION TRAIT1CTD_human;UNIPROT
TgeneEIF2AK4C0002514Amino Acid Metabolism, Inborn Errors1CTD_human
TgeneEIF2AK4C0018500Hair Diseases1CTD_human
TgeneEIF2AK4C0020542Pulmonary Hypertension1CTD_human
TgeneEIF2AK4C0021053Immune System Diseases1CTD_human
TgeneEIF2AK4C0026848Myopathy1CTD_human
TgeneEIF2AK4C0034091Pulmonary Veno-Occlusive Disease (disorder)1CTD_human;ORPHANET
TgeneEIF2AK4C0340848PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE1UNIPROT