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Fusion gene ID: 3327 |
FusionGeneSummary for ATP2A2_C12orf49 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP2A2_C12orf49 | Fusion gene ID: 3327 | Hgene | Tgene | Gene symbol | ATP2A2 | C12orf49 | Gene ID | 488 | 79794 |
| Gene name | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | chromosome 12 open reading frame 49 | |
| Synonyms | ATP2B|DAR|DD|SERCA2 | - | |
| Cytomap | 12q24.11 | 12q24.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slow | UPF0454 protein C12orf49 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P16615 | Q9H741 | |
| Ensembl transtripts involved in fusion gene | ENST00000308664, ENST00000395494, ENST00000539276, ENST00000550248, ENST00000552636, | ENST00000261318, ENST00000548356, ENST00000536380, | |
| Fusion gene scores | * DoF score | 12 X 16 X 8=1536 | 1 X 1 X 1=1 |
| # samples | 18 | 1 | |
| ** MAII score | log2(18/1536*10)=-3.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ATP2A2 [Title/Abstract] AND C12orf49 [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 | ATP2A2 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 16402920 |
| Hgene | ATP2A2 | GO:0032470 | positive regulation of endoplasmic reticulum calcium ion concentration | 16402920 |
| Hgene | ATP2A2 | GO:0070588 | calcium ion transmembrane transport | 16402920 |
| Hgene | ATP2A2 | GO:1903515 | calcium ion transport from cytosol to endoplasmic reticulum | 16402920 |
| 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 | RV | LUAD | TCGA-44-6779-01A | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| * 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 | ENST00000308664 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000308664 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000308664 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| Frame-shift | ENST00000395494 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000395494 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000395494 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| Frame-shift | ENST00000539276 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000539276 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000539276 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-3CDS | ENST00000550248 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-intron | ENST00000550248 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-intron | ENST00000550248 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-3CDS | ENST00000552636 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-intron | ENST00000552636 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-intron | ENST00000552636 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
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FusionProtFeatures for ATP2A2_C12orf49 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP2A2 | C12orf49 |
| This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the translocation of calcium from the cytosolto the sarcoplasmic reticulum lumen. Isoform 2 is involved in theregulation of the contraction/relaxation cycle (PubMed:16402920).Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathwaysvia its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generationnecessary for proper osteoclast generation. Association betweenTMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking foractivation of NFATC1 and production of mitochondrial ROS, therebytriggering Ca (2+) signaling cascades that promote osteoclastdifferentiation and activation (By similarity).{ECO:0000250|UniProtKB:O55143, ECO:0000269|PubMed:16402920}. |
| 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 ATP2A2_C12orf49 |
| 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 ATP2A2_C12orf49 |
| 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 |
| ATP2A2 | PTP4A3, S100A1, PLN, SLN, HGS, HDAC5, AMFR, ELAVL1, SIRT7, SPP1, FBXO25, TRIM13, CUL3, ITPR3, SLC3A2, ECT2, MDC1, ATF2, NOS2, CFTR, CLN3, CLN5, ADRB2, EGFR, ASB1, ASB5, ASB14, ASB17, LGR4, ILK, PTPLAD1, SPRTN, ERLIN2, CUL7, CCDC8, EZH2, SUZ12, RNF2, RIC3, UNK, ATP1B1, LMAN1, MTCH2, UQCRQ, VAPA, NDUFS4, NOTCH2, NTRK1, MDM2, TCTN2, TCTN3, CDK1, PKN2, XRCC3, RAB7A, SLC33A1, KIF23, NCSTN, GOLT1B, TMEM63B, TUBA1C, MBOAT1, SKI, RNF126, ESRRB, C3orf17, DERL1, ZNF746, CTDNEP1, PPEF2, PTPMT1, PTPRK, PTPRT, TPTE, PDHA1, TRIM25 | C12orf49 | ELAVL1, KRT31, TRIM54, TP53, PLSCR1, ASPHD2, HTRA1, KNTC1, ZWILCH, KIAA1715, SCCPDH, ACP2, ARV1, CANX, SLC30A7, ATP2B2, METTL9, PEX19 |
| - 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 ATP2A2_C12orf49 |
| 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 ATP2A2_C12orf49 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP2A2 | C0022595 | Keratosis Follicularis | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ATP2A2 | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | ATP2A2 | C0011581 | Depressive disorder | 2 | PSYGENET |
| Hgene | ATP2A2 | C0525045 | Mood Disorders | 2 | PSYGENET |
| Hgene | ATP2A2 | C0005586 | Bipolar Disorder | 1 | HPO;PSYGENET |
| Hgene | ATP2A2 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | ATP2A2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | ATP2A2 | C0018799 | Heart Diseases | 1 | CTD_human |
| Hgene | ATP2A2 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | ATP2A2 | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | ATP2A2 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Hgene | ATP2A2 | C0036341 | Schizophrenia | 1 | HPO;PSYGENET |
| Hgene | ATP2A2 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | ATP2A2 | C0206146 | Myocardial Stunning | 1 | CTD_human |
| Hgene | ATP2A2 | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
| Hgene | ATP2A2 | C0265971 | Acrokeratosis Verruciformis of Hopf | 1 | ORPHANET;UNIPROT |
| Hgene | ATP2A2 | C0853897 | Diabetic Cardiomyopathies | 1 | CTD_human |
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