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Fusion gene ID: 20117 |
FusionGeneSummary for LRP1B_ATP1A3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LRP1B_ATP1A3 | Fusion gene ID: 20117 | Hgene | Tgene | Gene symbol | LRP1B | ATP1A3 | Gene ID | 53353 | 478 |
| Gene name | LDL receptor related protein 1B | ATPase Na+/K+ transporting subunit alpha 3 | |
| Synonyms | LRP-1B|LRP-DIT|LRPDIT | AHC2|ATP1A1|CAPOS|DYT12|RDP | |
| Cytomap | 2q22.1-q22.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | low-density lipoprotein receptor-related protein 1BLRP-deleted in tumorslow density lipoprotein receptor related protein-deleted in tumorlow density lipoprotein receptor-related protein 1Blow density lipoprotein-related protein 1B (deleted in tumors) | sodium/potassium-transporting ATPase subunit alpha-3ATPase, Na+/K+ transporting, alpha 3 polypeptideNa(+)/K(+) ATPase alpha(III) subunitNa(+)/K(+) ATPase alpha-3 subunitNa+, K+ activated adenosine triphosphatase alpha subunitNa+/K+ ATPase 3sodium pu | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NZR2 | P13637 | |
| Ensembl transtripts involved in fusion gene | ENST00000389484, ENST00000486364, | ENST00000302102, ENST00000545399, ENST00000543770, ENST00000602133, ENST00000468774, | |
| Fusion gene scores | * DoF score | 7 X 7 X 3=147 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: LRP1B [Title/Abstract] AND ATP1A3 [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 | ATP1A3 | GO:0006883 | cellular sodium ion homeostasis | 10636900 |
| Tgene | ATP1A3 | GO:0010107 | potassium ion import | 10636900 |
| Tgene | ATP1A3 | GO:0030007 | cellular potassium ion homeostasis | 10636900 |
| Tgene | ATP1A3 | GO:0036376 | sodium ion export across plasma membrane | 10636900 |
| 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 | BF961292 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| * 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 |
| intron-3CDS | ENST00000389484 | ENST00000302102 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000389484 | ENST00000545399 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000389484 | ENST00000543770 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000389484 | ENST00000602133 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-intron | ENST00000389484 | ENST00000468774 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000486364 | ENST00000302102 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000486364 | ENST00000545399 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000486364 | ENST00000543770 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-3CDS | ENST00000486364 | ENST00000602133 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
| intron-intron | ENST00000486364 | ENST00000468774 | LRP1B | chr2 | 142370702 | - | ATP1A3 | chr19 | 42471857 | + |
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FusionProtFeatures for LRP1B_ATP1A3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LRP1B | ATP1A3 |
| Potential cell surface proteins that bind andinternalize ligands in the process of receptor-mediatedendocytosis. | This is the catalytic component of the active enzyme,which catalyzes the hydrolysis of ATP coupled with the exchange ofsodium and potassium ions across the plasma membrane. This actioncreates the electrochemical gradient of sodium and potassium ions,providing the energy for active transport of various nutrients. |
| 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 LRP1B_ATP1A3 |
| 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 LRP1B_ATP1A3 |
| 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 LRP1B_ATP1A3 |
| 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 | ATP1A3 | P13637 | DB01092 | Ouabain | Sodium/potassium-transporting ATPase subunit alpha-3 | small molecule | approved |
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RelatedDiseases for LRP1B_ATP1A3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LRP1B | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | LRP1B | C0025202 | melanoma | 1 | CTD_human |
| Tgene | ATP1A3 | C1868681 | DYSTONIA 12 | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ATP1A3 | C3553788 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | 3 | UNIPROT |
| Tgene | ATP1A3 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Tgene | ATP1A3 | C0338488 | Alternating hemiplegia of childhood | 2 | CTD_human;ORPHANET |
| Tgene | ATP1A3 | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | ATP1A3 | C0011581 | Depressive disorder | 1 | HPO;PSYGENET |
| Tgene | ATP1A3 | C0013421 | Dystonia | 1 | CTD_human;HPO |
| Tgene | ATP1A3 | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | ATP1A3 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | ATP1A3 | C0178417 | Anhedonia | 1 | PSYGENET |
| Tgene | ATP1A3 | C0242422 | Parkinsonian Disorders | 1 | CTD_human;HPO |
| Tgene | ATP1A3 | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
| Tgene | ATP1A3 | C1832466 | CAPOS syndrome | 1 | ORPHANET;UNIPROT |
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