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Fusion gene ID: 23750 |
FusionGeneSummary for NCS1_TOR1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NCS1_TOR1B | Fusion gene ID: 23750 | Hgene | Tgene | Gene symbol | NCS1 | TOR1B | Gene ID | 23413 | 27348 |
| Gene name | neuronal calcium sensor 1 | torsin family 1 member B | |
| Synonyms | FLUP|FREQ | DQ1 | |
| Cytomap | 9q34.11 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neuronal calcium sensor 1frequenin homologfrequenin-like proteinfrequenin-like ubiquitous protein | torsin-1Btorsin ATPase-1Btorsin B | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | P62166 | O14657 | |
| Ensembl transtripts involved in fusion gene | ENST00000372398, ENST00000493042, ENST00000458469, | ENST00000259339, ENST00000486372, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NCS1 [Title/Abstract] AND TOR1B [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 |
| Tgene | TOR1B | GO:0007029 | endoplasmic reticulum organization | 24275647 |
| Tgene | TOR1B | GO:0051260 | protein homooligomerization | 20015956 |
| 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 | HNSC | TCGA-T3-A92M-01A | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| * 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 |
| Frame-shift | ENST00000372398 | ENST00000259339 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| 5CDS-3UTR | ENST00000372398 | ENST00000486372 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| intron-3CDS | ENST00000493042 | ENST00000259339 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| intron-3UTR | ENST00000493042 | ENST00000486372 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| Frame-shift | ENST00000458469 | ENST00000259339 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
| 5CDS-3UTR | ENST00000458469 | ENST00000486372 | NCS1 | chr9 | 132985438 | + | TOR1B | chr9 | 132566352 | + |
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FusionProtFeatures for NCS1_TOR1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NCS1 | TOR1B |
| Neuronal calcium sensor, regulator of G protein-coupledreceptor phosphorylation in a calcium dependent manner. Directlyregulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute forcalmodulin (By similarity). Stimulates PI4KB kinase activity (Bysimilarity). Involved in long-term synaptic plasticity through itsinteraction with PICK1 (By similarity). May also play a role inneuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity). {ECO:0000250}. | May serve as a molecular chaperone assisting in theproper folding of secreted and/or membrane proteins. Plays a rolein non-neural cells nuclear envelope and endoplasmic reticulumintegrity. May have a redundant function with TOR1A in non-neuraltissues. {ECO:0000269|PubMed:23569223,ECO:0000269|PubMed:24275647}. |
| 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 NCS1_TOR1B |
| 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 NCS1_TOR1B |
| 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 |
| NCS1 | IL1RAPL1, DTX2, PI4KB, DRD2, DRD3, KCND2, ELAVL1, KDM3B, KIF21A, NAF1, SNRPB, SRP68, NBL1, SLC25A41, NUFIP1, FSD1, TMEM185A, HSD17B3, CEP89, XPO1, BSPRY, ABHD6, NMT2, USP24, TK1, NMT1, ICAM1, CNOT3, FCGR3A | TOR1B | TOR1A, H2AFX, FBXO6, TOR1AIP2, HLA-DPA1, CD1B, GIMAP2, GHITM, LMAN2L, ADPGK, TNFSF8, MGAT4C, KLRG2 |
| - 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 NCS1_TOR1B |
| 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 |
| Hgene | NCS1 | P62166 | DB11093 | Calcium Citrate | Neuronal calcium sensor 1 | small molecule | approved |
| Hgene | NCS1 | P62166 | DB11348 | Calcium Phosphate | Neuronal calcium sensor 1 | small molecule | approved |
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RelatedDiseases for NCS1_TOR1B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NCS1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | NCS1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | NCS1 | C0600427 | Cocaine Dependence | 1 | PSYGENET |
| Tgene | TOR1B | C0021400 | Influenza | 1 | CTD_human |
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