Fusion gene information | Fusion gene name: ACIN1-ST3GAL5 |
Fusion gene ID: hg22985tg8869 | | Hgene | Tgene | Gene symbol | ACIN1 | ST3GAL5 | Gene ID | 22985 | 8869 | Gene name | apoptotic chromatin condensation inducer 1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
Synonyms | ACINUS|ACN|fSAP152 | SATI|SIAT9|SIATGM3S|SPDRS|ST3Gal V|ST3GalV |
Cytomap | ('ACIN1')('ST3GAL5') 14q11.2 | 2p11.2 |
Type of gene | protein-coding | protein-coding |
Description | apoptotic chromatin condensation inducer in the nucleusfunctional spliceosome-associated protein 152 | lactosylceramide alpha-2,3-sialyltransferaseCMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferaseST3 beta-galactoside alpha-23-sialyltransferase 5alpha 2,3-sialyltransferase Vganglioside GM3 synthasesialyltransferase 9 (CMP-NeuAc:lactosylceramide al |
Modification date | 20200313 | 20200320 |
UniProtAcc | Q9UKV3 | . |
Ensembl transtripts involved in fusion gene | ENST00000262710, ENST00000338631, ENST00000357481, ENST00000397341, ENST00000457657, ENST00000555053, ENST00000555352, ENST00000557515, ENST00000605057, | |
Fusion gene scores | * DoF score | 12 X 11 X 4=528 | 3 X 3 X 2=18 |
# samples | 13 | 3 |
** MAII score | log2(13/528*10)=-2.02202630633 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: ACIN1 [Title/Abstract] AND ST3GAL5 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ACIN1(23544533)-ST3GAL5(86113661), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
ACIN1
Q9UKV3 | . |
FUNCTION: Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}. | 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}. |