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Fusion gene ID: 12615 |
FusionGeneSummary for FAM162A_CASR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM162A_CASR | Fusion gene ID: 12615 | Hgene | Tgene | Gene symbol | FAM162A | CASR | Gene ID | 26355 | 846 |
| Gene name | family with sequence similarity 162 member A | calcium sensing receptor | |
| Synonyms | C3orf28|E2IG5|HGTD-P | CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|HYPOC1|NSHPT|PCAR1|hCasR | |
| Cytomap | 3q21.1 | 3q13.33-q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM162AE2-induced gene 5 proteinHIF-1 alpha-responsive proapoptotic moleculegrowth and transformation-dependent protein | extracellular calcium-sensing receptorparathyroid Ca(2+)-sensing receptor 1parathyroid cell calcium-sensing receptor 1 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q96A26 | P41180 | |
| Ensembl transtripts involved in fusion gene | ENST00000232125, ENST00000477892, ENST00000469967, | ENST00000490131, ENST00000498619, ENST00000296154, | |
| Fusion gene scores | * DoF score | 3 X 2 X 5=30 | 5 X 3 X 6=90 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/90*10)=-0.169925001442312 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FAM162A [Title/Abstract] AND CASR [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 | FAM162A | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 15082785 |
| Hgene | FAM162A | GO:0043065 | positive regulation of apoptotic process | 15082785 |
| Hgene | FAM162A | GO:0071456 | cellular response to hypoxia | 15082785 |
| Hgene | FAM162A | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 15082785 |
| Tgene | CASR | GO:0005513 | detection of calcium ion | 27434672 |
| Tgene | CASR | GO:0006874 | cellular calcium ion homeostasis | 27434672 |
| Tgene | CASR | GO:0007186 | G-protein coupled receptor signaling pathway | 27434672 |
| Tgene | CASR | GO:0070509 | calcium ion import | 20846291 |
| 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 | BLCA | TCGA-K4-A3WV-01A | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| TCGA | RV | LUAD | TCGA-91-8499-01A | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| TCGA | LD | STAD | TCGA-VQ-A91K-01A | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| * 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 |
| 5UTR-5UTR | ENST00000232125 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5UTR-5UTR | ENST00000232125 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5UTR-intron | ENST00000232125 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-5UTR | ENST00000477892 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-5UTR | ENST00000477892 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-intron | ENST00000477892 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-5UTR | ENST00000469967 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-5UTR | ENST00000469967 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5CDS-intron | ENST00000469967 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121972795 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000477892 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000477892 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000477892 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000469967 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000469967 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| Frame-shift | ENST00000469967 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121980375 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| 5UTR-3CDS | ENST00000232125 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000477892 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000477892 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000477892 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000469967 | ENST00000490131 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000469967 | ENST00000498619 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
| Frame-shift | ENST00000469967 | ENST00000296154 | FAM162A | chr3 | 122103146 | + | CASR | chr3 | 121994659 | + |
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FusionProtFeatures for FAM162A_CASR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM162A | CASR |
| Proposed to be involved in regulation of apoptosis; theexact mechanism may differ between cell types/tissues. May beinvolved in hypoxia-induced cell death of transformed cellsimplicating cytochrome C release and caspase activation (such asCASP9) and inducing mitochondrial permeability transition. May beinvolved in hypoxia-induced cell death of neuronal cells probablyby promoting release of AIFM1 from mitochondria to cytoplasm andits translocation to the nucleus; however, the involvement ofcaspases has been reported conflictingly.{ECO:0000269|PubMed:15082785}. | G-protein-coupled receptor that senses changes in theextracellular concentration of calcium ions and plays a key rolein maintaining calcium homeostasis (PubMed:7759551,PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508,PubMed:19789209, PubMed:21566075, PubMed:22114145,PubMed:23966241, PubMed:25292184, PubMed:25104082,PubMed:26386835, PubMed:25766501, PubMed:22789683). Sensesfluctuations in the circulating calcium concentration andmodulates the production of parathyroid hormone (PTH) inparathyroid glands (By similarity). The activity of this receptoris mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism:aromatic amino acids, such as Trp or Phe, act concertedly withdivalent cations, such as calcium or magnesium, to achieve fullreceptor activation (PubMed:27434672, PubMed:27386547).{ECO:0000250|UniProtKB:Q9QY96, ECO:0000269|PubMed:17555508,ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:21566075,ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:22789683,ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25104082,ECO:0000269|PubMed:25292184, ECO:0000269|PubMed:25766501,ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:27386547,ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:7759551,ECO:0000269|PubMed:8636323, ECO:0000269|PubMed:8702647,ECO:0000269|PubMed:8878438}. |
| 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 FAM162A_CASR |
| 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 FAM162A_CASR |
| 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 |
| FAM162A | SRRT, SLC25A1, PTRF, VDAC2, MRPL22, RMDN3, TM9SF4, TIMM23B, SSR3, HACL1, IWS1, UBL4A, HSP90AA1, ADRB2, BSG, SIAE, CPVL, NDUFA4, ASPH, GHITM, CTNNA3, PCDHA12 | CASR | FLNA, CASR, CHD8, RNF19A, VCP, STAMBP, PRKCA, PRKCB, PRKCG, OS9 |
| - 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 FAM162A_CASR |
| 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 | CASR | P41180 | DB01012 | Cinacalcet | Extracellular calcium-sensing receptor {ECO:0000305} | small molecule | approved |
| Tgene | CASR | P41180 | DB11093 | Calcium Citrate | Extracellular calcium-sensing receptor {ECO:0000305} | small molecule | approved |
| Tgene | CASR | P41180 | DB11348 | Calcium Phosphate | Extracellular calcium-sensing receptor {ECO:0000305} | small molecule | approved |
| Tgene | CASR | P41180 | DB00994 | Neomycin | Extracellular calcium-sensing receptor {ECO:0000305} | small molecule | approved|vet_approved |
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RelatedDiseases for FAM162A_CASR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CASR | C3715128 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 | 15 | ORPHANET;UNIPROT |
| Tgene | CASR | C0342637 | Hypocalciuric hypercalcemia, familial, type 1 | 12 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CASR | C1832615 | HYPERPARATHYROIDISM, NEONATAL SEVERE | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CASR | C0020502 | Hyperparathyroidism | 2 | CTD_human;HPO |
| Tgene | CASR | C0020598 | Hypocalcemia | 2 | CTD_human;HPO |
| Tgene | CASR | C0020437 | Hypercalcemia | 1 | CTD_human;HPO |
| Tgene | CASR | C0020626 | Hypoparathyroidism | 1 | CTD_human |
| Tgene | CASR | C1832648 | Hypoparathyroidism familial isolated | 1 | CTD_human |
| Tgene | CASR | C2752062 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 | 1 | UNIPROT |
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