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Fusion gene ID: 4242 |
FusionGeneSummary for BMP7_PLD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BMP7_PLD6 | Fusion gene ID: 4242 | Hgene | Tgene | Gene symbol | BMP7 | PLD6 | Gene ID | 655 | 201164 |
| Gene name | bone morphogenetic protein 7 | phospholipase D family member 6 | |
| Synonyms | OP-1 | ZUC | |
| Cytomap | 20q13.31 | 17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bone morphogenetic protein 7osteogenic protein 1 | mitochondrial cardiolipin hydrolasePLD 6choline phosphatase 6mitoPLDmitochondrial phospholipasephosphatidylcholine-hydrolyzing phospholipase D6phospholipase D6protein zucchini homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P18075 | Q8N2A8 | |
| Ensembl transtripts involved in fusion gene | ENST00000395863, ENST00000395864, ENST00000450594, ENST00000460817, | ENST00000321560, | |
| Fusion gene scores | * DoF score | 7 X 5 X 5=175 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BMP7 [Title/Abstract] AND PLD6 [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 | BMP7 | GO:0010628 | positive regulation of gene expression | 28124060 |
| Hgene | BMP7 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 19736306 |
| Hgene | BMP7 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9311995|16049014|17244894|19736306 |
| Hgene | BMP7 | GO:0030501 | positive regulation of bone mineralization | 18436533 |
| Hgene | BMP7 | GO:0030509 | BMP signaling pathway | 16049014|18436533 |
| Hgene | BMP7 | GO:0034116 | positive regulation of heterotypic cell-cell adhesion | 15100360 |
| Hgene | BMP7 | GO:0034504 | protein localization to nucleus | 17244894 |
| Hgene | BMP7 | GO:0042326 | negative regulation of phosphorylation | 17244894 |
| Hgene | BMP7 | GO:0043407 | negative regulation of MAP kinase activity | 17244894 |
| Hgene | BMP7 | GO:0045665 | negative regulation of neuron differentiation | 16325379 |
| Hgene | BMP7 | GO:0045669 | positive regulation of osteoblast differentiation | 18436533 |
| Hgene | BMP7 | GO:0045786 | negative regulation of cell cycle | 11502704 |
| Hgene | BMP7 | GO:0045839 | negative regulation of mitotic nuclear division | 17244894 |
| Hgene | BMP7 | GO:0045892 | negative regulation of transcription, DNA-templated | 15100360|17244894 |
| Hgene | BMP7 | GO:0045893 | positive regulation of transcription, DNA-templated | 14517293|15100360|16049014 |
| Hgene | BMP7 | GO:0048762 | mesenchymal cell differentiation | 9693150 |
| Hgene | BMP7 | GO:0048812 | neuron projection morphogenesis | 16325379 |
| Hgene | BMP7 | GO:0060393 | regulation of pathway-restricted SMAD protein phosphorylation | 16049014 |
| Hgene | BMP7 | GO:0060395 | SMAD protein signal transduction | 17244894 |
| Hgene | BMP7 | GO:0060548 | negative regulation of cell death | 12631064 |
| Hgene | BMP7 | GO:0070487 | monocyte aggregation | 15100360 |
| Hgene | BMP7 | GO:0072125 | negative regulation of glomerular mesangial cell proliferation | 17244894 |
| Hgene | BMP7 | GO:1900006 | positive regulation of dendrite development | 11580864 |
| Hgene | BMP7 | GO:1900106 | positive regulation of hyaluranon cable assembly | 15100360 |
| Tgene | PLD6 | GO:0010636 | positive regulation of mitochondrial fusion | 24599962 |
| 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 | BI053091 | BMP7 | chr20 | 55745997 | - | PLD6 | chr17 | 17134833 | - |
| * 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-intron | ENST00000395863 | ENST00000321560 | BMP7 | chr20 | 55745997 | - | PLD6 | chr17 | 17134833 | - |
| intron-intron | ENST00000395864 | ENST00000321560 | BMP7 | chr20 | 55745997 | - | PLD6 | chr17 | 17134833 | - |
| intron-intron | ENST00000450594 | ENST00000321560 | BMP7 | chr20 | 55745997 | - | PLD6 | chr17 | 17134833 | - |
| intron-intron | ENST00000460817 | ENST00000321560 | BMP7 | chr20 | 55745997 | - | PLD6 | chr17 | 17134833 | - |
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FusionProtFeatures for BMP7_PLD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMP7 | PLD6 |
| Induces cartilage and bone formation. May be theosteoinductive factor responsible for the phenomenon of epithelialosteogenesis. Plays a role in calcium regulation and bonehomeostasis. | Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAsprovide essential protection against the activity of mobilegenetic elements (By similarity). piRNA-mediated transposonsilencing is thus critical for maintaining genome stability, inparticular in germline cells when transposons are mobilized as aconsequence of wide-spread genomic demethylation (By similarity).Has been proposed to act as a cardiolipin hydrolase to generatephosphatidic acid at mitochondrial surface (By similarity).Although it cannot be excluded that it can act as a phospholipasein some circumstances, it should be noted that cardiolipinhydrolase activity is either undetectable in vitro, or very low(PubMed:21397848). In addition, cardiolipin is almost exclusivelyfound on the inner mitochondrial membrane, while PLD6 localizes tothe outer mitochondrial membrane, facing the cytosol(PubMed:21397848). Has been shown to be a backbone-non-specific,single strand-specific nuclease, cleaving either RNA or DNAsubstrates with similar affinity. Produces 5' phosphate and 3'hydroxyl termini, suggesting it could directly participate in theprocessing of primary piRNA transcripts (By similarity). Also actsas a regulator of mitochondrial shape through facilitatingmitochondrial fusion (PubMed:17028579, PubMed:26711011).{ECO:0000250|UniProtKB:Q5SWZ9, ECO:0000269|PubMed:17028579,ECO:0000269|PubMed:21397848, ECO:0000269|PubMed:26711011}. |
| 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 BMP7_PLD6 |
| 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 BMP7_PLD6 |
| 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 BMP7_PLD6 |
| 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 BMP7_PLD6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BMP7 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | BMP7 | C0005974 | Bone Resorption | 1 | CTD_human |
| Hgene | BMP7 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | BMP7 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | BMP7 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | BMP7 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | BMP7 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | BMP7 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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