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Fusion gene ID: 18024 |
FusionGeneSummary for JARID2_BMP6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JARID2_BMP6 | Fusion gene ID: 18024 | Hgene | Tgene | Gene symbol | JARID2 | BMP6 | Gene ID | 3720 | 654 |
| Gene name | jumonji and AT-rich interaction domain containing 2 | bone morphogenetic protein 6 | |
| Synonyms | JMJ | VGR|VGR1 | |
| Cytomap | 6p22.3 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein Jumonjijumonji homologjumonji, AT rich interactive domain 2jumonji-like proteinjumonji/ARID domain-containing protein 2 | bone morphogenetic protein 6VG-1-RVG-1-related proteinvegetal related growth factor (TGFB-related) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92833 | P22004 | |
| Ensembl transtripts involved in fusion gene | ENST00000341776, ENST00000397311, ENST00000541660, ENST00000474854, | ENST00000283147, | |
| Fusion gene scores | * DoF score | 16 X 6 X 10=960 | 3 X 3 X 2=18 |
| # samples | 15 | 3 | |
| ** MAII score | log2(15/960*10)=-2.67807190511264 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: JARID2 [Title/Abstract] AND BMP6 [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 | BMP6 | GO:0003323 | type B pancreatic cell development | 11865031 |
| Tgene | BMP6 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 17244894|19366699 |
| Tgene | BMP6 | GO:0030501 | positive regulation of bone mineralization | 18436533 |
| Tgene | BMP6 | GO:0030509 | BMP signaling pathway | 18436533 |
| Tgene | BMP6 | GO:0032349 | positive regulation of aldosterone biosynthetic process | 16527843 |
| Tgene | BMP6 | GO:0045669 | positive regulation of osteoblast differentiation | 18436533 |
| Tgene | BMP6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16527843 |
| Tgene | BMP6 | GO:0050679 | positive regulation of epithelial cell proliferation | 11865031 |
| Tgene | BMP6 | GO:0060395 | SMAD protein signal transduction | 17244894 |
| 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 | BRCA | TCGA-E2-A9RU-01A | JARID2 | chr6 | 15410596 | + | BMP6 | chr6 | 7879307 | + |
| * 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 | ENST00000341776 | ENST00000283147 | JARID2 | chr6 | 15410596 | + | BMP6 | chr6 | 7879307 | + |
| 5UTR-3CDS | ENST00000397311 | ENST00000283147 | JARID2 | chr6 | 15410596 | + | BMP6 | chr6 | 7879307 | + |
| Frame-shift | ENST00000541660 | ENST00000283147 | JARID2 | chr6 | 15410596 | + | BMP6 | chr6 | 7879307 | + |
| intron-3CDS | ENST00000474854 | ENST00000283147 | JARID2 | chr6 | 15410596 | + | BMP6 | chr6 | 7879307 | + |
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FusionProtFeatures for JARID2_BMP6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JARID2 | BMP6 |
| Regulator of histone methyltransferase complexes thatplays an essential role in embryonic development, including heartand liver development, neural tube fusion process andhematopoiesis. Acts by modulating histone methyltransferaseactivity and promoting the recruitment of histonemethyltransferase complexes to their target genes. Binds DNA andmediates the recruitment of the PRC2 complex to target genes inembryonic stem cells. Does not have histone demethylase activitybut regulates activity of various histone methyltransferasecomplexes. In embryonic stem cells, it associates with the PRC2complex and inhibits trimethylation of 'Lys-27' of histone H3(H3K27me3) by the PRC2 complex, thereby playing a key role indifferentiation of embryonic stem cells and normal development. Incardiac cells, it is required to repress expression of cyclin-D1(CCND1) by activating methylation of 'Lys-9' of histone H3(H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histonemethyltransferases. Also acts as a transcriptional repressor ofANF via its interaction with GATA4 and NKX2-5. Participates in thenegative regulation of cell proliferation signaling.{ECO:0000269|PubMed:20075857}. | Induces cartilage and bone formation. |
| 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 JARID2_BMP6 |
| 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 JARID2_BMP6 |
| 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 |
| JARID2 | EHMT2, EHMT1, EZH2, SUZ12, MTF2, GATA4, SETDB1, ELAVL1, NKX2-5, ALB, EZH1, EED, AEBP2, RBBP4, RBBP7, HDAC2, SLAIN2, NANOG, POU5F1, DDB2 | BMP6 | ACVR2A, ACVR2B, BMPR2, BMPR1A, TRIM25 |
| - 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 JARID2_BMP6 |
| 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 JARID2_BMP6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JARID2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | JARID2 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Tgene | BMP6 | C0018995 | Hemochromatosis | 2 | CTD_human |
| Tgene | BMP6 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | BMP6 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| Tgene | BMP6 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | BMP6 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
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