![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 4577 |
FusionGeneSummary for BUB1B_EIF2AK4 |
![]() |
Fusion gene information | Fusion gene name: BUB1B_EIF2AK4 | Fusion gene ID: 4577 | Hgene | Tgene | Gene symbol | BUB1B | EIF2AK4 | Gene ID | 701 | 440275 |
Gene name | BUB1 mitotic checkpoint serine/threonine kinase B | eukaryotic translation initiation factor 2 alpha kinase 4 | |
Synonyms | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 | GCN2|PVOD2 | |
Cytomap | 15q15.1 | 15q15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | mitotic checkpoint serine/threonine-protein kinase BUB1 betaBUB1B, mitotic checkpoint serine/threonine kinaseMAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3L | eIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O60566 | Q9P2K8 | |
Ensembl transtripts involved in fusion gene | ENST00000287598, ENST00000412359, ENST00000560120, | ENST00000559624, ENST00000382727, ENST00000263791, ENST00000560648, ENST00000559311, | |
Fusion gene scores | * DoF score | 2 X 3 X 3=18 | 4 X 6 X 4=96 |
# samples | 3 | 7 | |
** MAII score | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BRCA | TCGA-AO-A128-01A | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
TCGA | RV | UCS | TCGA-N8-A56S-01A | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000287598 | ENST00000559624 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000287598 | ENST00000382727 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000287598 | ENST00000263791 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000287598 | ENST00000560648 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000287598 | ENST00000559311 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000412359 | ENST00000559624 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000412359 | ENST00000382727 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000412359 | ENST00000263791 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000412359 | ENST00000560648 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000412359 | ENST00000559311 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
intron-intron | ENST00000560120 | ENST00000559624 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
intron-intron | ENST00000560120 | ENST00000382727 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
intron-intron | ENST00000560120 | ENST00000263791 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
intron-intron | ENST00000560120 | ENST00000560648 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
intron-intron | ENST00000560120 | ENST00000559311 | BUB1B | chr15 | 40468874 | + | EIF2AK4 | chr15 | 40301815 | + |
5CDS-intron | ENST00000287598 | ENST00000559624 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000287598 | ENST00000382727 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000287598 | ENST00000263791 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000287598 | ENST00000560648 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000287598 | ENST00000559311 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000412359 | ENST00000559624 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000412359 | ENST00000382727 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000412359 | ENST00000263791 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000412359 | ENST00000560648 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
5CDS-intron | ENST00000412359 | ENST00000559311 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
intron-intron | ENST00000560120 | ENST00000559624 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
intron-intron | ENST00000560120 | ENST00000382727 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
intron-intron | ENST00000560120 | ENST00000263791 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
intron-intron | ENST00000560120 | ENST00000560648 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
intron-intron | ENST00000560120 | ENST00000559311 | BUB1B | chr15 | 40510763 | + | EIF2AK4 | chr15 | 40278006 | + |
Top |
FusionProtFeatures for BUB1B_EIF2AK4 |
![]() |
Hgene | Tgene |
BUB1B | EIF2AK4 |
![]() * 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 |
Top |
FusionGeneSequence for BUB1B_EIF2AK4 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for BUB1B_EIF2AK4 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BUB1B | HDAC1, 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, HDAC3 | EIF2AK4 | USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for BUB1B_EIF2AK4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for BUB1B_EIF2AK4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BUB1B | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | BUB1B | C0025958 | Microcephaly | 1 | CTD_human |
Hgene | BUB1B | C0206656 | Rhabdomyosarcoma, Embryonal | 1 | CTD_human |
Hgene | BUB1B | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | BUB1B | C1850343 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | BUB1B | C1864389 | PREMATURE CHROMATID SEPARATION TRAIT | 1 | CTD_human;UNIPROT |
Tgene | EIF2AK4 | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
Tgene | EIF2AK4 | C0018500 | Hair Diseases | 1 | CTD_human |
Tgene | EIF2AK4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Tgene | EIF2AK4 | C0021053 | Immune System Diseases | 1 | CTD_human |
Tgene | EIF2AK4 | C0026848 | Myopathy | 1 | CTD_human |
Tgene | EIF2AK4 | C0034091 | Pulmonary Veno-Occlusive Disease (disorder) | 1 | CTD_human;ORPHANET |
Tgene | EIF2AK4 | C0340848 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | 1 | UNIPROT |