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Fusion gene ID: 8697 |
FusionGeneSummary for CSTA_CASR |
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Fusion gene information | Fusion gene name: CSTA_CASR | Fusion gene ID: 8697 | Hgene | Tgene | Gene symbol | CSTA | CASR | Gene ID | 1475 | 846 |
Gene name | cystatin A | calcium sensing receptor | |
Synonyms | AREI|PSS4|STF1|STFA | 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 | cystatin-Acystatin A (stefin A)cystatin AS | extracellular calcium-sensing receptorparathyroid Ca(2+)-sensing receptor 1parathyroid cell calcium-sensing receptor 1 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P01040 | P41180 | |
Ensembl transtripts involved in fusion gene | ENST00000264474, ENST00000479204, | ENST00000490131, ENST00000498619, ENST00000296154, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 3 X 6=90 |
# samples | 4 | 8 | |
** MAII score | log2(4/18*10)=1.15200309344505 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: CSTA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CSTA | GO:0010466 | negative regulation of peptidase activity | 6203523 |
Hgene | CSTA | GO:0018149 | peptide cross-linking | 10908733 |
Hgene | CSTA | GO:0030216 | keratinocyte differentiation | 10908733 |
Hgene | CSTA | GO:0045861 | negative regulation of proteolysis | 3488317 |
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 |
![]() (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 | RV | LUSC | TCGA-92-8065-01A | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
TCGA | LD | LUSC | TCGA-56-8082-01A | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
In-frame | ENST00000264474 | ENST00000490131 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
In-frame | ENST00000264474 | ENST00000498619 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
In-frame | ENST00000264474 | ENST00000296154 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
Frame-shift | ENST00000479204 | ENST00000490131 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
Frame-shift | ENST00000479204 | ENST00000498619 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
Frame-shift | ENST00000479204 | ENST00000296154 | CSTA | chr3 | 122056495 | + | CASR | chr3 | 121994659 | + |
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FusionProtFeatures for CSTA_CASR |
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Hgene | Tgene |
CSTA | CASR |
This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}. | 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}. |
![]() * 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 |
Hgene | CSTA | chr3:122056495 | chr3:121994659 | ENST00000264474 | + | 2 | 3 | 46_50 | 56 | 99 | Motif | Note=Secondary area of contact |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 542_612 | 459 | 1079 | Region | Cysteine-rich (CR) |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 542_612 | 459 | 1079 | Region | Cysteine-rich (CR) |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 636_649 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 671_681 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 701_724 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 746_769 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 793_805 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 829_836 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 863_1078 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 636_649 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 671_681 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 701_724 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 746_769 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 793_805 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 829_836 | 459 | 1079 | Topological domain | Extracellular |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 863_1078 | 459 | 1079 | Topological domain | Cytoplasmic |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 613_635 | 459 | 1079 | Transmembrane | Helical%3B Name%3D1 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 650_670 | 459 | 1079 | Transmembrane | Helical%3B Name%3D2 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 682_700 | 459 | 1079 | Transmembrane | Helical%3B Name%3D3 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 725_745 | 459 | 1079 | Transmembrane | Helical%3B Name%3D4 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 770_792 | 459 | 1079 | Transmembrane | Helical%3B Name%3D5 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 806_828 | 459 | 1079 | Transmembrane | Helical%3B Name%3D6 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 837_862 | 459 | 1079 | Transmembrane | Helical%3B Name%3D7 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 613_635 | 459 | 1079 | Transmembrane | Helical%3B Name%3D1 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 650_670 | 459 | 1079 | Transmembrane | Helical%3B Name%3D2 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 682_700 | 459 | 1079 | Transmembrane | Helical%3B Name%3D3 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 725_745 | 459 | 1079 | Transmembrane | Helical%3B Name%3D4 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 770_792 | 459 | 1079 | Transmembrane | Helical%3B Name%3D5 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 806_828 | 459 | 1079 | Transmembrane | Helical%3B Name%3D6 |
Tgene | >CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 837_862 | 459 | 1079 | Transmembrane | Helical%3B Name%3D7 |
- 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 |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 189_324 | 459 | 1079 | Region | Ligand-binding 2 (LB2) |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 22_188 | 459 | 1079 | Region | Ligand-binding 1 (LB1) |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 415_417 | 459 | 1079 | Region | Anion binding |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 66_70 | 459 | 1079 | Region | Anion binding |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 189_324 | 459 | 1079 | Region | Ligand-binding 2 (LB2) |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 22_188 | 459 | 1079 | Region | Ligand-binding 1 (LB1) |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 415_417 | 459 | 1079 | Region | Anion binding |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 66_70 | 459 | 1079 | Region | Anion binding |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 20_612 | 459 | 1079 | Topological domain | Extracellular |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 20_612 | 459 | 1079 | Topological domain | Extracellular |
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FusionGeneSequence for CSTA_CASR |
![]() (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 CSTA_CASR |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CSTA | CTSB, CTSL, CTSH, PI3, KRT1, LOR, DSP, IVL, CSTA, USP53, UCHL5, RAD21, TCF3, CUL4B, CUL2, CDK2, METTL23, CEP57, ZDHHC17, TCTN3, RASSF9, RASSF10, HERC2, FOXR1, MCM2, EGFR, ZIC1, CYLD | CASR | FLNA, CASR, CHD8, RNF19A, VCP, STAMBP, PRKCA, PRKCB, PRKCG, OS9 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000296154 | + | 2 | 6 | 880_900 | 459 | 1079 | RNF19A |
Tgene | CASR | chr3:122056495 | chr3:121994659 | ENST00000490131 | + | 3 | 7 | 880_900 | 459 | 1079 | RNF19A |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CSTA_CASR |
![]() (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 CSTA_CASR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CSTA | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | CSTA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | CSTA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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 |