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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:DOCK7-ANGPTL3 (FusionGDB2 ID:23827) |
Fusion Gene Summary for DOCK7-ANGPTL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DOCK7-ANGPTL3 | Fusion gene ID: 23827 | Hgene | Tgene | Gene symbol | DOCK7 | ANGPTL3 | Gene ID | 85440 | 27329 |
| Gene name | dedicator of cytokinesis 7 | angiopoietin like 3 | |
| Synonyms | EIEE23|ZIR2 | ANG-5|ANGPT5|ANL3|FHBL2 | |
| Cytomap | 1p31.3 | 1p31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dedicator of cytokinesis protein 7 | angiopoietin-related protein 3angiopoietin 5 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | Q96N67 | Q9Y5C1 | |
| Ensembl transtripts involved in fusion gene | ENST00000251157, ENST00000340370, ENST00000404627, ENST00000489185, | ENST00000493994, ENST00000371129, | |
| Fusion gene scores | * DoF score | 13 X 12 X 7=1092 | 2 X 2 X 2=8 |
| # samples | 14 | 2 | |
| ** MAII score | log2(14/1092*10)=-2.96347412397489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: DOCK7 [Title/Abstract] AND ANGPTL3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DOCK7(63153898)-ANGPTL3(63063278), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DOCK7-ANGPTL3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 | DOCK7 | GO:0090630 | activation of GTPase activity | 16982419 |
| Tgene | ANGPTL3 | GO:0006071 | glycerol metabolic process | 12565906 |
| Tgene | ANGPTL3 | GO:0006631 | fatty acid metabolic process | 12565906 |
| Tgene | ANGPTL3 | GO:0006644 | phospholipid metabolic process | 17110602 |
| Tgene | ANGPTL3 | GO:0007165 | signal transduction | 11877390 |
| Tgene | ANGPTL3 | GO:0008203 | cholesterol metabolic process | 17110602 |
| Tgene | ANGPTL3 | GO:0009395 | phospholipid catabolic process | 17110602 |
| Tgene | ANGPTL3 | GO:0010519 | negative regulation of phospholipase activity | 17110602 |
| Tgene | ANGPTL3 | GO:0019915 | lipid storage | 12565906 |
| Tgene | ANGPTL3 | GO:0030335 | positive regulation of cell migration | 11877390 |
| Tgene | ANGPTL3 | GO:0042632 | cholesterol homeostasis | 17110602 |
| Tgene | ANGPTL3 | GO:0045766 | positive regulation of angiogenesis | 11877390 |
| Tgene | ANGPTL3 | GO:0050996 | positive regulation of lipid catabolic process | 12565906 |
| Tgene | ANGPTL3 | GO:0051005 | negative regulation of lipoprotein lipase activity | 17110602|19542565 |
| Tgene | ANGPTL3 | GO:0055088 | lipid homeostasis | 17110602 |
| Tgene | ANGPTL3 | GO:0055090 | acylglycerol homeostasis | 17110602 |
| Tgene | ANGPTL3 | GO:0055091 | phospholipid homeostasis | 17110602 |
| Fusion gene breakpoints across DOCK7 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ANGPTL3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | OV | TCGA-25-1630-01A | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
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Fusion Gene ORF analysis for DOCK7-ANGPTL3 |
| 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 |
| 5CDS-intron | ENST00000251157 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| 5CDS-intron | ENST00000340370 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| 5CDS-intron | ENST00000404627 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| Frame-shift | ENST00000251157 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| Frame-shift | ENST00000340370 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| Frame-shift | ENST00000404627 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| intron-3CDS | ENST00000489185 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| intron-intron | ENST00000489185 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DOCK7-ANGPTL3 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for DOCK7-ANGPTL3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:63153898/:63063278) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DOCK7 | ANGPTL3 |
| FUNCTION: Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity). {ECO:0000250|UniProtKB:Q8R1A4, ECO:0000269|PubMed:16982419, ECO:0000269|PubMed:29467281}. | FUNCTION: Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity). {ECO:0000250|UniProtKB:Q9R182, ECO:0000269|PubMed:11788823, ECO:0000269|PubMed:12097324, ECO:0000269|PubMed:12565906, ECO:0000269|PubMed:12909640, ECO:0000269|PubMed:17110602, ECO:0000269|PubMed:19028676, ECO:0000269|PubMed:19318355, ECO:0000269|PubMed:20581395, ECO:0000269|PubMed:23661675, ECO:0000269|PubMed:25495645, ECO:0000305|PubMed:20581395}.; FUNCTION: [ANGPTL3(17-221)]: In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL. {ECO:0000269|PubMed:19542565}.; FUNCTION: Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity). {ECO:0000250|UniProtKB:Q9R182, ECO:0000269|PubMed:11877390, ECO:0000269|PubMed:18535744}. |
| 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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Fusion Gene Sequence for DOCK7-ANGPTL3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for DOCK7-ANGPTL3 |
| 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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Related Drugs for DOCK7-ANGPTL3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for DOCK7-ANGPTL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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