Fusion gene information | Fusion gene name: SLC3A2-SLC3A2 |
Fusion gene ID: hg6520tg6520 | | Hgene | Tgene | Gene symbol | SLC3A2 | SLC3A2 | Gene ID | 6520 | 6520 | Gene name | solute carrier family 3 member 2 | solute carrier family 3 member 2 |
Synonyms | 4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE | 4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE |
Cytomap | ('SLC3A2')('SLC3A2') 11q12.3 | 11q12.3 |
Type of gene | protein-coding | protein-coding |
Description | 4F2 cell-surface antigen heavy chainCD98 heavy chainantigen defined by monoclonal antibody 4F2, heavy chainantigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43lymphocyte activation antigen 4F2 large subunitmonoclonal antibody 44D7 | 4F2 cell-surface antigen heavy chainCD98 heavy chainantigen defined by monoclonal antibody 4F2, heavy chainantigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43lymphocyte activation antigen 4F2 large subunitmonoclonal antibody 44D7 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000338663, ENST00000377889, ENST00000377890, ENST00000377891, ENST00000377892, ENST00000535296, ENST00000536981, ENST00000538682,
| ENST00000536981, ENST00000538682, ENST00000338663, ENST00000377889, ENST00000377890, ENST00000377891, ENST00000377892, ENST00000535296,
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Fusion gene scores | * DoF score | 15 X 12 X 9=1620 | 10 X 11 X 7=770 |
# samples | 19 | 13 |
** MAII score | log2(19/1620*10)=-3.09192248944104 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/770*10)=-2.56634682255381 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: SLC3A2 [Title/Abstract] AND SLC3A2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | SLC3A2(62648455)-SLC3A2(62652959), # samples:2
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Anticipated loss of major functional domain due to fusion event. | SLC3A2-SLC3A2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. SLC3A2-SLC3A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
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Hgene | Tgene |
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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 | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000338663 | + | 1 | 9 | 102_184 | 0 | 530.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000338663 | + | 1 | 9 | 206_630 | 0 | 530.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377889 | + | 1 | 10 | 102_184 | 0 | 569.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377889 | + | 1 | 10 | 206_630 | 0 | 569.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377890 | + | 1 | 12 | 102_184 | 0 | 631.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377890 | + | 1 | 12 | 206_630 | 0 | 631.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377892 | + | 1 | 13 | 102_184 | 0 | 662.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377892 | + | 1 | 13 | 206_630 | 0 | 662.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | + | 1 | 9 | 102_184 | 0 | 530.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | + | 1 | 9 | 206_630 | 0 | 530.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | + | 1 | 10 | 102_184 | 0 | 569.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | + | 1 | 10 | 206_630 | 0 | 569.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | + | 1 | 12 | 102_184 | 0 | 631.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | + | 1 | 12 | 206_630 | 0 | 631.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | + | 1 | 13 | 102_184 | 0 | 662.0 | Topological domain | Cytoplasmic |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | + | 1 | 13 | 206_630 | 0 | 662.0 | Topological domain | Extracellular |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000338663 | + | 1 | 9 | 185_205 | 0 | 530.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377889 | + | 1 | 10 | 185_205 | 0 | 569.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377890 | + | 1 | 12 | 185_205 | 0 | 631.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62655929 | chr11:62652670 | ENST00000377892 | + | 1 | 13 | 185_205 | 0 | 662.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | + | 1 | 9 | 185_205 | 0 | 530.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | + | 1 | 10 | 185_205 | 0 | 569.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | + | 1 | 12 | 185_205 | 0 | 631.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Hgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | + | 1 | 13 | 185_205 | 0 | 662.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | | 6 | 9 | 102_184 | 381 | 530.0 | Topological domain | Cytoplasmic |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | | 6 | 9 | 206_630 | 381 | 530.0 | Topological domain | Extracellular |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | | 7 | 10 | 102_184 | 420 | 569.0 | Topological domain | Cytoplasmic |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | | 7 | 10 | 206_630 | 420 | 569.0 | Topological domain | Extracellular |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | | 9 | 12 | 102_184 | 482 | 631.0 | Topological domain | Cytoplasmic |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | | 9 | 12 | 206_630 | 482 | 631.0 | Topological domain | Extracellular |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | | 10 | 13 | 102_184 | 513 | 662.0 | Topological domain | Cytoplasmic |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | | 10 | 13 | 206_630 | 513 | 662.0 | Topological domain | Extracellular |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000338663 | | 6 | 9 | 185_205 | 381 | 530.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377889 | | 7 | 10 | 185_205 | 420 | 569.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377890 | | 9 | 12 | 185_205 | 482 | 631.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Tgene | SLC3A2 | chr11:62656079 | chr11:62655606 | ENST00000377892 | | 10 | 13 | 185_205 | 513 | 662.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |