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Fusion gene ID: 30655 |
FusionGeneSummary for RBFOX2_CACNG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBFOX2_CACNG2 | Fusion gene ID: 30655 | Hgene | Tgene | Gene symbol | RBFOX2 | CACNG2 | Gene ID | 23543 | 10369 |
| Gene name | RNA binding fox-1 homolog 2 | calcium voltage-gated channel auxiliary subunit gamma 2 | |
| Synonyms | FOX2|Fox-2|HNRBP2|HRNBP2|RBM9|RTA|dJ106I20.3|fxh | MRD10 | |
| Cytomap | 22q12.3 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RNA binding protein fox-1 homolog 2RNA binding protein, fox-1 homolog 2RNA-binding motif protein 9fox-1 homolog Bfox-1 homologuehexaribonucleotide-binding protein 2repressor of tamoxifen transcriptional activity | voltage-dependent calcium channel gamma-2 subunitTARP gamma-2neuronal voltage-gated calcium channel gamma-2 subunitstargazintransmembrane AMPAR regulatory protein gamma-2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43251 | Q9Y698 | |
| Ensembl transtripts involved in fusion gene | ENST00000405409, ENST00000414461, ENST00000449924, ENST00000262829, ENST00000397303, ENST00000359369, ENST00000416721, ENST00000438146, | ENST00000300105, ENST00000480002, | |
| Fusion gene scores | * DoF score | 13 X 8 X 8=832 | 2 X 2 X 3=12 |
| # samples | 14 | 5 | |
| ** MAII score | log2(14/832*10)=-2.57115670119613 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/12*10)=2.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RBFOX2 [Title/Abstract] AND CACNG2 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | RBFOX2 | GO:0030520 | intracellular estrogen receptor signaling pathway | 11875103 |
| Hgene | RBFOX2 | GO:0045892 | negative regulation of transcription, DNA-templated | 11875103 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | OV | TCGA-23-1030-01A | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000405409 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000405409 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-3CDS | ENST00000414461 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000414461 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-3CDS | ENST00000449924 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000449924 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-3CDS | ENST00000262829 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000262829 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-3CDS | ENST00000397303 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000397303 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| 5UTR-3CDS | ENST00000359369 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| 5UTR-intron | ENST00000359369 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-3CDS | ENST00000416721 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| intron-intron | ENST00000416721 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| Frame-shift | ENST00000438146 | ENST00000300105 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
| 5CDS-intron | ENST00000438146 | ENST00000480002 | RBFOX2 | chr22 | 36334895 | - | CACNG2 | chr22 | 36983595 | - |
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FusionProtFeatures for RBFOX2_CACNG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBFOX2 | CACNG2 |
| Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targetingto the cell membrane and synapses and modulates their gatingproperties by slowing their rates of activation, deactivation anddesensitization. Does not show subunit-specific AMPA receptorregulation and regulates all AMPAR subunits. Thought to stabilizethe calcium channel in an inactivated (closed) state.{ECO:0000269|PubMed:20805473}. |
| Retention 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 . * 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 |
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FusionGeneSequence for RBFOX2_CACNG2 |
| 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 RBFOX2_CACNG2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| RBFOX2 | RHOXF2, DAZAP2, DMRTB1, RBPMS, ESR1, ESR2, TOLLIP, POLR3D, ELAVL2, HNRNPAB, ZNF137P, MED7, NR2E3, CHAF1A, GTF2A1L, RBFOX2, BRD7, DEDD2, GLIS2, ELAVL1, CUL3, ATXN1, QKI, RBFOX1, ATN1, ATXN1L, RERE, VCP, SNRPC, SF3A1, U2AF2, RBM23, RBM22, DDX5, HNRNPK, SMN1, HNRNPF, HNRNPH2, RBM42, PTBP1, KHDRBS1, PSMF1, APH1A, RPA1, RPA2, RPA3, CAMK2B, DAB1, PSMA3, RNF8, MAGED1, VAC14, BOLL, C1orf94, NAF1, MAPK1IP1L, BMI1, TRMT61A, PRMT5, EIF4G3, MBNL1, RBPMS2, LARP4B, PUM1, PUM2, RBM38, HELZ, DPH2, GPATCH8, FNDC3B, FAM136A, PRRC2A, ATXN2, COPRS, JMJD4, CLNS1A, ANKRD40, RBMS1, RIOK1, MSI2, OTUD4, HOXA5, UBAP2, PLEKHB1, C19orf52, PJA1, FBXO7, BCS1L, PARL, UNK, NTRK1, CEP164, APC, MATR3, PHF12, GATAD1, RBMS2, NR3C1, TRIM25 | CACNG2 | GRIA4, GRIA1, GRIA2, DLG4, DLG1, GRIN1, APP, SRPK2, ITPR2, HBS1L, GOPC, MTCH2, CSNK1E, CSNK1D, CCNT1, STAT3, ATF1, EPHA7, MSTO1, PPIAL4G |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RBFOX2_CACNG2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | CACNG2 | Q9Y698 | DB00898 | Ethanol | Voltage-dependent calcium channel gamma-2 subunit | small molecule | approved |
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RelatedDiseases for RBFOX2_CACNG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RBFOX2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | RBFOX2 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | CACNG2 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | CACNG2 | C3280284 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 | 1 | UNIPROT |
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