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Fusion gene ID: 15882 |
FusionGeneSummary for HBP1_JAZF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HBP1_JAZF1 | Fusion gene ID: 15882 | Hgene | Tgene | Gene symbol | HBP1 | JAZF1 | Gene ID | 26959 | 221895 |
| Gene name | HMG-box transcription factor 1 | JAZF zinc finger 1 | |
| Synonyms | - | TIP27|ZNF802 | |
| Cytomap | 7q22.3 | 7p15.2-p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | HMG box-containing protein 1high mobility group box transcription factor 1 | juxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O60381 | Q86VZ6 | |
| Ensembl transtripts involved in fusion gene | ENST00000468410, ENST00000222574, ENST00000485846, ENST00000461963, | ENST00000283928, ENST00000466516, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 6 X 4 X 5=120 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HBP1 [Title/Abstract] AND JAZF1 [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 | JAZF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15302918 |
| 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 | AI365660 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| * 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-intron | ENST00000468410 | ENST00000283928 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| 3UTR-intron | ENST00000468410 | ENST00000466516 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| 3UTR-intron | ENST00000222574 | ENST00000283928 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| 3UTR-intron | ENST00000222574 | ENST00000466516 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| intron-intron | ENST00000485846 | ENST00000283928 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| intron-intron | ENST00000485846 | ENST00000466516 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| intron-intron | ENST00000461963 | ENST00000283928 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
| intron-intron | ENST00000461963 | ENST00000466516 | HBP1 | chr7 | 106842272 | + | JAZF1 | chr7 | 28187691 | + |
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FusionProtFeatures for HBP1_JAZF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HBP1 | JAZF1 |
| Transcriptional repressor that binds to the promoterregion of target genes. Plays a role in the regulation of the cellcycle and of the Wnt pathway. Binds preferentially to the sequence5'-TTCATTCATTCA-3'. Binding to the H1F0 promoter is enhanced byinteraction with RB1. Disrupts the interaction between DNA andTCF4. {ECO:0000269|PubMed:10562551, ECO:0000269|PubMed:10958660,ECO:0000269|PubMed:11500377}. | 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}. |
| 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 HBP1_JAZF1 |
| 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 HBP1_JAZF1 |
| 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 HBP1_JAZF1 |
| 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 HBP1_JAZF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | JAZF1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | JAZF1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Tgene | JAZF1 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Tgene | JAZF1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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