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Fusion gene ID: 5302 |
FusionGeneSummary for CALM1_CANX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CALM1_CANX | Fusion gene ID: 5302 | Hgene | Tgene | Gene symbol | CALM1 | CANX | Gene ID | 801 | 821 |
| Gene name | calmodulin 1 | calnexin | |
| Synonyms | CALML2|CAMI|CPVT4|DD132|LQT14|PHKD|caM | CNX|IP90|P90 | |
| Cytomap | 14q32.11 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calmodulin-1calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1 | calnexinmajor histocompatibility complex class I antigen-binding protein p88 | |
| Modification date | 20180529 | 20180522 | |
| UniProtAcc | P27824 | ||
| Ensembl transtripts involved in fusion gene | ENST00000356978, ENST00000447653, ENST00000555132, ENST00000553542, ENST00000544280, | ENST00000504734, ENST00000415618, ENST00000452673, ENST00000247461, ENST00000512607, ENST00000503126, | |
| Fusion gene scores | * DoF score | 10 X 10 X 2=200 | 9 X 12 X 1=108 |
| # samples | 21 | 12 | |
| ** MAII score | log2(21/200*10)=0.070389327891398 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(12/108*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CALM1 [Title/Abstract] AND CANX [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 | CALM1 | GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 20226167 |
| Hgene | CALM1 | GO:0030801 | positive regulation of cyclic nucleotide metabolic process | 8631777 |
| Hgene | CALM1 | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 8631777 |
| Hgene | CALM1 | GO:0035307 | positive regulation of protein dephosphorylation | 8631777 |
| Hgene | CALM1 | GO:0051343 | positive regulation of cyclic-nucleotide phosphodiesterase activity | 8631777 |
| Hgene | CALM1 | GO:0051592 | response to calcium ion | 7607248 |
| Hgene | CALM1 | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 22067155 |
| Hgene | CALM1 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 26164367 |
| Hgene | CALM1 | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 20226167 |
| 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 | BF949860 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| * 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 |
| 3UTR-3CDS | ENST00000356978 | ENST00000504734 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| 3UTR-3CDS | ENST00000356978 | ENST00000415618 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| 3UTR-3CDS | ENST00000356978 | ENST00000452673 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| 3UTR-3CDS | ENST00000356978 | ENST00000247461 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| 3UTR-3CDS | ENST00000356978 | ENST00000512607 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| 3UTR-intron | ENST00000356978 | ENST00000503126 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000447653 | ENST00000504734 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000447653 | ENST00000415618 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000447653 | ENST00000452673 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000447653 | ENST00000247461 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000447653 | ENST00000512607 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-intron | ENST00000447653 | ENST00000503126 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000555132 | ENST00000504734 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000555132 | ENST00000415618 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000555132 | ENST00000452673 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000555132 | ENST00000247461 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000555132 | ENST00000512607 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-intron | ENST00000555132 | ENST00000503126 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000553542 | ENST00000504734 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000553542 | ENST00000415618 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000553542 | ENST00000452673 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000553542 | ENST00000247461 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000553542 | ENST00000512607 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-intron | ENST00000553542 | ENST00000503126 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000544280 | ENST00000504734 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000544280 | ENST00000415618 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000544280 | ENST00000452673 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000544280 | ENST00000247461 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-3CDS | ENST00000544280 | ENST00000512607 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
| intron-intron | ENST00000544280 | ENST00000503126 | CALM1 | chr14 | 90872966 | - | CANX | chr5 | 179146768 | - |
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FusionProtFeatures for CALM1_CANX |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CALM1 | CANX |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Calcium-binding protein that interacts with newlysynthesized glycoproteins in the endoplasmic reticulum. It may actin assisting protein assembly and/or in the retention within theER of unassembled protein subunits. It seems to play a major rolein the quality control apparatus of the ER by the retention ofincorrectly folded proteins. Associated with partial T-cellantigen receptor complexes that escape the ER of immaturethymocytes, it may function as a signaling complex regulatingthymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse. |
| 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 CALM1_CANX |
| 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 CALM1_CANX |
| 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 CALM1_CANX |
| 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 | CANX | P27824 | DB00031 | Tenecteplase | Calnexin | biotech | approved |
| Tgene | CANX | P27824 | DB11093 | Calcium Citrate | Calnexin | small molecule | approved |
| Tgene | CANX | P27824 | DB11348 | Calcium Phosphate | Calnexin | small molecule | approved |
| Tgene | CANX | P27824 | DB00025 | Antihemophilic factor, human recombinant | Calnexin | biotech | approved|investigational |
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RelatedDiseases for CALM1_CANX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CALM1 | C3554047 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | 2 | UNIPROT |
| Hgene | CALM1 | C4015671 | LONG QT SYNDROME 14 | 2 | UNIPROT |
| Hgene | CALM1 | C4015695 | LONG QT SYNDROME 15 | 2 | UNIPROT |
| Hgene | CALM1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | CALM1 | C0024809 | Marijuana Abuse | 1 | CTD_human |
| Hgene | CALM1 | C0031391 | Phencyclidine Abuse | 1 | CTD_human |
| Hgene | CALM1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | CALM1 | C0043094 | Weight Gain | 1 | CTD_human |
| Hgene | CALM1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Tgene | CANX | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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