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Fusion gene ID: 9827 |
FusionGeneSummary for DGKD_SAG |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DGKD_SAG | Fusion gene ID: 9827 | Hgene | Tgene | Gene symbol | DGKD | SAG | Gene ID | 8527 | 9616 |
| Gene name | diacylglycerol kinase delta | ring finger protein 7 | |
| Synonyms | DGKdelta|dgkd-2 | CKBBP1|ROC2|SAG | |
| Cytomap | 2q37.1 | 3q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | diacylglycerol kinase deltaDAG kinase deltaDGK-deltadiacylglycerol kinase, delta 130kDadiglyceride kinase delta | RING-box protein 2CKII beta-binding protein 1rbx2regulator of cullins 2sensitive to apoptosis gene proteinsensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2zinc RING finger protein SAG | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q16760 | P10523 | |
| Ensembl transtripts involved in fusion gene | ENST00000264057, ENST00000409813, ENST00000489613, | ENST00000409110, ENST00000461532, ENST00000449594, | |
| Fusion gene scores | * DoF score | 7 X 3 X 9=189 | 2 X 4 X 4=32 |
| # samples | 10 | 4 | |
| ** MAII score | log2(10/189*10)=-0.918386234446348 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DGKD [Title/Abstract] AND SAG [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 | DGKD | GO:0010033 | response to organic substance | 12200442 |
| Hgene | DGKD | GO:0051260 | protein homooligomerization | 12200442 |
| Tgene | SAG | GO:0045116 | protein neddylation | 19250909 |
| 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 | ACC | TCGA-OR-A5JY-01A | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| TCGA | RV | ESCA | TCGA-L5-A8NI-01A | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| TCGA | RV | LUAD | TCGA-91-8499-01A | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| * 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 | ENST00000264057 | ENST00000409110 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| 5CDS-intron | ENST00000264057 | ENST00000461532 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| 5CDS-intron | ENST00000264057 | ENST00000449594 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-3CDS | ENST00000409813 | ENST00000409110 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-intron | ENST00000409813 | ENST00000461532 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-intron | ENST00000409813 | ENST00000449594 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-3CDS | ENST00000489613 | ENST00000409110 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-intron | ENST00000489613 | ENST00000461532 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| intron-intron | ENST00000489613 | ENST00000449594 | DGKD | chr2 | 234263320 | + | SAG | chr2 | 234255453 | + |
| Frame-shift | ENST00000264057 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| 5CDS-intron | ENST00000264057 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| 5CDS-intron | ENST00000264057 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| Frame-shift | ENST00000409813 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| 5CDS-intron | ENST00000409813 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| 5CDS-intron | ENST00000409813 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| intron-3CDS | ENST00000489613 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| intron-intron | ENST00000489613 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| intron-intron | ENST00000489613 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234243608 | + |
| 5CDS-5UTR | ENST00000264057 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| 5CDS-intron | ENST00000264057 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| 5CDS-intron | ENST00000264057 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| 5CDS-5UTR | ENST00000409813 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| 5CDS-intron | ENST00000409813 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| 5CDS-intron | ENST00000409813 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| intron-5UTR | ENST00000489613 | ENST00000409110 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| intron-intron | ENST00000489613 | ENST00000461532 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
| intron-intron | ENST00000489613 | ENST00000449594 | DGKD | chr2 | 234299129 | + | SAG | chr2 | 234217808 | + |
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FusionProtFeatures for DGKD_SAG |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DGKD | SAG |
| May function as signaling molecule.{ECO:0000269|PubMed:17880279}. Isoform 2 may be involved in cell growth andtumorigenesis. Involved in clathrin-dependent endocytosis.{ECO:0000269|PubMed:17880279}. | Binds to photoactivated, phosphorylated RHO andterminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). Mayplay a role in preventing light-dependent degeneration of retinalphotoreceptor cells (PubMed:9565049).{ECO:0000250|UniProtKB:P08168, ECO:0000305|PubMed:9565049}. |
| 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 DGKD_SAG |
| 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 DGKD_SAG |
| 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 |
| DGKD | DGKH, HAX1, IGSF21, DGKD, TNFRSF14, SREK1, FEZ1, TRIM25 | SAG | RHO, ARRB1, ARRB2, SAG |
| - 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 DGKD_SAG |
| 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 DGKD_SAG |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SAG | C1306122 | Oguchi disease | 2 | CTD_human;HPO;ORPHANET |
| Tgene | SAG | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;HPO;ORPHANET |
| Tgene | SAG | C0042164 | Uveitis | 1 | CTD_human |
| Tgene | SAG | C0339535 | Night blindness, congenital stationary | 1 | CTD_human;HPO;ORPHANET |
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