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Fusion gene ID: 18043 |
FusionGeneSummary for JAZF1_CTNNA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JAZF1_CTNNA1 | Fusion gene ID: 18043 | Hgene | Tgene | Gene symbol | JAZF1 | CTNNA1 | Gene ID | 221895 | 1495 |
| Gene name | JAZF zinc finger 1 | catenin alpha 1 | |
| Synonyms | TIP27|ZNF802 | CAP102|MDPT2 | |
| Cytomap | 7p15.2-p15.1 | 5q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | juxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802 | catenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q86VZ6 | P35221 | |
| Ensembl transtripts involved in fusion gene | ENST00000283928, ENST00000466516, | ENST00000355078, ENST00000302763, ENST00000518825, ENST00000520400, ENST00000540387, | |
| Fusion gene scores | * DoF score | 13 X 7 X 7=637 | 11 X 13 X 6=858 |
| # samples | 13 | 13 | |
| ** MAII score | log2(13/637*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/858*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: JAZF1 [Title/Abstract] AND CTNNA1 [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 | JAZF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15302918 |
| Tgene | CTNNA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| 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 | DC422616 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| * 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 | ENST00000283928 | ENST00000355078 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-3CDS | ENST00000283928 | ENST00000302763 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000283928 | ENST00000518825 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000283928 | ENST00000520400 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000283928 | ENST00000540387 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-3CDS | ENST00000466516 | ENST00000355078 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-3CDS | ENST00000466516 | ENST00000302763 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000466516 | ENST00000518825 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000466516 | ENST00000520400 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
| intron-intron | ENST00000466516 | ENST00000540387 | JAZF1 | chr7 | 28220328 | - | CTNNA1 | chr5 | 138089112 | + |
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FusionProtFeatures for JAZF1_CTNNA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JAZF1 | CTNNA1 |
| Acts as a transcriptional corepressor of orphan nuclearreceptor NR2C2 (PubMed:15302918). Inhibits expression of thegluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity(By similarity). Also involved in transcriptional activation ofNAMPT by promoting expression of PPARA and PPARD (By similarity).Plays a role in lipid metabolism by suppressing lipogenesis,increasing lipolysis and decreasing lipid accumulation in adiposetissue (By similarity). Plays a role in glucose homeostasis byimproving glucose metabolism and insulin sensitivity (Bysimilarity). {ECO:0000250|UniProtKB:Q80ZQ5,ECO:0000269|PubMed:15302918}. | Associates with the cytoplasmic domain of a variety ofcadherins. The association of catenins to cadherins produces acomplex which is linked to the actin filament network, and whichseems to be of primary importance for cadherins cell-adhesionproperties. Can associate with both E- and N-cadherins. Originallybelieved to be a stable component of E-cadherin/catenin adhesioncomplexes and to mediate the linkage of cadherins to the actincytoskeleton at adherens junctions. In contrast, cortical actinwas found to be much more dynamic than E-cadherin/catenincomplexes and CTNNA1 was shown not to bind to F-actin whenassembled in the complex suggesting a different linkage betweenactin and adherens junctions components. The homodimeric form mayregulate actin filament assembly and inhibit actin branching bycompeting with the Arp2/3 complex for binding to actin filaments.May play a crucial role in cell differentiation.{ECO:0000269|PubMed:25653389}. |
| 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 JAZF1_CTNNA1 |
| 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 JAZF1_CTNNA1 |
| 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 JAZF1_CTNNA1 |
| 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 JAZF1_CTNNA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JAZF1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | JAZF1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | JAZF1 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Hgene | JAZF1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | CTNNA1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Tgene | CTNNA1 | C1837029 | Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | 1 | UNIPROT |
| Tgene | CTNNA1 | C1868569 | Patterned dystrophy of retinal pigment epithelium | 1 | CTD_human |
| Tgene | CTNNA1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
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