Fusion gene information | Fusion gene name: BUB1B-BUB1B |
Fusion gene ID: hg701tg701 | | Hgene | Tgene | Gene symbol | BUB1B | BUB1B | Gene ID | 701 | 701 | Gene name | BUB1 mitotic checkpoint serine/threonine kinase B | BUB1 mitotic checkpoint serine/threonine kinase B |
Synonyms | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 |
Cytomap | ('BUB1B')('BUB1B') 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 | 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 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000560120, ENST00000287598, ENST00000412359, | ENST00000560120, ENST00000287598, ENST00000412359,
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Fusion gene scores | * DoF score | 5 X 6 X 5=150 | 8 X 10 X 5=400 |
# samples | 12 | 9 |
** MAII score | log2(12/150*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/400*10)=-2.15200309344505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: BUB1B [Title/Abstract] AND BUB1B [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | BUB1B(40453435)-BUB1B(40453321), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BUB1B | C1850343 | Mosaic variegated aneuploidy syndrome 1 | 6 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | BUB1B | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | BUB1B | C0025958 | Microcephaly | 1 | CTD_human |
Hgene | BUB1B | C0027654 | Embryonal Neoplasm | 1 | CTD_human |
Hgene | BUB1B | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
Hgene | BUB1B | C0205851 | Germ cell tumor | 1 | CTD_human |
Hgene | BUB1B | C0205852 | Neoplasms, Embryonal and Mixed | 1 | CTD_human |
Hgene | BUB1B | C0206656 | Embryonal Rhabdomyosarcoma | 1 | CTD_human |
Hgene | BUB1B | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | BUB1B | C0740345 | Germ Cell Cancer | 1 | CTD_human |
Hgene | BUB1B | C0751364 | Cancer, Embryonal | 1 | CTD_human |
Hgene | BUB1B | C0751365 | Cancer, Embryonal and Mixed | 1 | CTD_human |
Hgene | BUB1B | C1864389 | PREMATURE CHROMATID SEPARATION TRAIT | 1 | CTD_human;UNIPROT |
Hgene | BUB1B | C1956147 | Microlissencephaly | 1 | CTD_human |
Hgene | BUB1B | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | BUB1B | C2931286 | Warburton Anyane Yeboa syndrome | 1 | ORPHANET |
Hgene | BUB1B | C2931383 | Chromosomal mosaicism due to mitotic instability | 1 | CTD_human |
Hgene | BUB1B | C3853041 | Severe Congenital Microcephaly | 1 | CTD_human |
Tgene | | C1850343 | Mosaic variegated aneuploidy syndrome 1 | 6 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0018273 | Growth Disorders | 1 | CTD_human |
Tgene | | C0025958 | Microcephaly | 1 | CTD_human |
Tgene | | C0027654 | Embryonal Neoplasm | 1 | CTD_human |
Tgene | | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
Tgene | | C0205851 | Germ cell tumor | 1 | CTD_human |
Tgene | | C0205852 | Neoplasms, Embryonal and Mixed | 1 | CTD_human |
Tgene | | C0206656 | Embryonal Rhabdomyosarcoma | 1 | CTD_human |
Tgene | | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | | C0740345 | Germ Cell Cancer | 1 | CTD_human |
Tgene | | C0751364 | Cancer, Embryonal | 1 | CTD_human |
Tgene | | C0751365 | Cancer, Embryonal and Mixed | 1 | CTD_human |
Tgene | | C1864389 | PREMATURE CHROMATID SEPARATION TRAIT | 1 | CTD_human;UNIPROT |
Tgene | | C1956147 | Microlissencephaly | 1 | CTD_human |
Tgene | | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | | C2931286 | Warburton Anyane Yeboa syndrome | 1 | ORPHANET |
Tgene | | C2931383 | Chromosomal mosaicism due to mitotic instability | 1 | CTD_human |
Tgene | | C3853041 | Severe Congenital Microcephaly | 1 | CTD_human |