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Fusion gene ID: 5243 |
FusionGeneSummary for CACNG8_BIN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNG8_BIN1 | Fusion gene ID: 5243 | Hgene | Tgene | Gene symbol | CACNG8 | BIN1 | Gene ID | 59283 | 274 |
| Gene name | calcium voltage-gated channel auxiliary subunit gamma 8 | bridging integrator 1 | |
| Synonyms | - | AMPH2|AMPHL|CNM2|SH3P9 | |
| Cytomap | 19q13.42 | 2q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | voltage-dependent calcium channel gamma-8 subunitTARP gamma-8calcium channel, voltage-dependent, gamma subunit 8neuronal voltage-gated calcium channel gamma-8 subunittransmembrane AMPAR regulatory protein gamma-8 | myc box-dependent-interacting protein 1amphiphysin IIamphiphysin-like proteinbox dependant MYC interacting protein 1box-dependent myc-interacting protein 1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8WXS5 | O00499 | |
| Ensembl transtripts involved in fusion gene | ENST00000270458, | ENST00000376113, ENST00000346226, ENST00000352848, ENST00000393041, ENST00000348750, ENST00000357970, ENST00000259238, ENST00000393040, ENST00000351659, ENST00000316724, ENST00000409400, ENST00000466111, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 5 X 5 X 3=75 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/4*10)=2.90689059560852 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CACNG8 [Title/Abstract] AND BIN1 [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 | CACNG8 | GO:2000311 | regulation of AMPA receptor activity | 20805473|21172611 |
| Tgene | BIN1 | GO:0043065 | positive regulation of apoptotic process | 16530520 |
| Tgene | BIN1 | GO:0071156 | regulation of cell cycle arrest | 10412034 |
| 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 |
| ChiTaRS3.1 | BI034622 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + | ||
| ChiTaRS3.1 | BF963566 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| * 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-intron | ENST00000270458 | ENST00000376113 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000346226 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000352848 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000393041 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000348750 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000357970 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000259238 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000393040 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000351659 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000316724 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000409400 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
| intron-intron | ENST00000270458 | ENST00000466111 | CACNG8 | chr19 | 54484133 | + | BIN1 | chr2 | 127815247 | + |
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FusionProtFeatures for CACNG8_BIN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CACNG8 | BIN1 |
| Regulates the activity of L-type calcium channels thatcontain CACNA1C as pore-forming subunit (By similarity). Regulatesthe trafficking and gating properties of AMPA-selective glutamatereceptors (AMPARs). Promotes their targeting to the cell membraneand synapses and modulates their gating properties by slowingtheir rates of activation, deactivation and desensitization and bymediating their resensitization. Does not show subunit-specificAMPA receptor regulation and regulates all AMPAR subunits.{ECO:0000250|UniProtKB:Q8VHW2, ECO:0000269|PubMed:20805473,ECO:0000269|PubMed:21172611}. |
| 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 CACNG8_BIN1 |
| 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 CACNG8_BIN1 |
| 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 |
| - 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 CACNG8_BIN1 |
| 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 |
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RelatedDiseases for CACNG8_BIN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CACNG8 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | BIN1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Tgene | BIN1 | C0410204 | Myopathy, Centronuclear, Autosomal Recessive | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | BIN1 | C0752282 | Congenital Structural Myopathy | 1 | CTD_human |
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