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Fusion gene ID: 10412 |
FusionGeneSummary for DOCK7_ANGPTL3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DOCK7_ANGPTL3 | Fusion gene ID: 10412 | 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 | 20180523 | 20180519 | |
UniProtAcc | Q96N67 | Q9Y5C1 | |
Ensembl transtripts involved in fusion gene | ENST00000251157, ENST00000340370, ENST00000489185, ENST00000404627, | ENST00000371129, ENST00000493994, | |
Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(6/140*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: DOCK7 [Title/Abstract] AND ANGPTL3 [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 | 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 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 | LD | OV | TCGA-25-1630-01A | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
* 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 | ENST00000251157 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
5CDS-intron | ENST00000251157 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
Frame-shift | ENST00000340370 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
5CDS-intron | ENST00000340370 | ENST00000493994 | 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 | + |
Frame-shift | ENST00000404627 | ENST00000371129 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
5CDS-intron | ENST00000404627 | ENST00000493994 | DOCK7 | chr1 | 63153898 | - | ANGPTL3 | chr1 | 63063278 | + |
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FusionProtFeatures for DOCK7_ANGPTL3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DOCK7 | ANGPTL3 |
Acts in part as a hepatokine that is involved inregulation of lipid and glucose metabolism (PubMed:11788823,PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed toplay a role in the trafficking of energy substrates to eitherstorage or oxidative tissues in response to food intake (Bysimilarity). Has a stimulatory effect on plasma triglycerides(TG), which is achieved by suppressing plasma TG clearance viainhibition of LPL activity. The inhibition of LPL activity appearsto be an indirect mechanism involving recruitment of proproteinconvertases PCSK6 and FURIN to LPL leading to cleavage anddissociation of LPL from the cell surface; the function does notrequire ANGPTL3 proteolytic cleavage but seems to be mediated bythe N-terminal domain, and is not inhibited by GPIHBP1(PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibitendothelial lipase, causing increased plasma levels of highdensity lipoprotein (HDL) cholesterol and phospholipids(PubMed:17110602, PubMed:19028676). Can bind to adipocytes toactivate lipolysis, releasing free fatty acids and glycerol(PubMed:12565906). Suppresses LPL specifically in oxidativetissues which is required to route very low density lipoprotein(VLDL)-TG to white adipose tissue (WAT) for storage in response tofood; the function may involve cooperation with circulating,liver-derived ANGPTL8 and ANGPTL4 expression in WAT (Bysimilarity). Contributes to lower plasma levels of low densitylipoprotein (LDL)-cholesterol by a mechanism that is independentof the canonical pathway implicating APOE and LDLR. May stimulatehypothalamic 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}. ANGPTL3(17-221): In vitro inhibits LPL activity; noteffective on GPIHBP1-stabilized LPL.{ECO:0000269|PubMed:19542565}. Involved in angiogenesis. Binds to endothelial cells viaintegrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Aktsignaling pathways and induces cell adhesion and cell migration(PubMed:11877390). Secreted from podocytes, may modulateproperties of glomerular endothelial cells involving integrinalpha-V/beta-3 and Akt signaling (PubMed:18535744). May increasethe motility of podocytes. May induce actin filamentrearrangements in podocytes implicating integrin alpha-V/beta-3and Rac1 activation. Binds to hematopoietic stem cells (HSC) andis involved in the regulation of HSC activity probably implicatingdown-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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FusionGeneSequence for DOCK7_ANGPTL3 |
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 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 |
DOCK7 | TSC1, USP19, USP7, GTF2A1, MLH1, YWHAG, MARK4, YWHAH, YWHAZ, PPP2CB, GRB7, BCL2L1, SNCA, RPP14, TK1, CDKN1A, SMN1, ANXA7, SOX2, SIRT7, VCP, PAN2, CRLF3, DOCK6, LRCH1, LRCH2, LRCH3, DOCK8, LRCH4, MOB1A, MOB1B, WHSC1L1, WWOX, LGR4, STAU1, AURKB, CEP250, TP53, TUBGCP3, MOV10, NXF1, CCDC8, PIH1D1, ARPC3, PPP1R18, SKAP1, LPCAT1, PTGER3, RASSF10, FBXW11, NTRK1, IFI16, PLK4, MED23, XPO1, CAPZA2, CDK2, MYH9, MYO1C, MYO19, MYO6, DUSP13, DUSP26, MTMR7, AVIL, TMOD3, ZNF785, TGM5, PRPSAP2, IRF3, LGALS7, KLHDC9, CBY1, DCAF7, UBE2A | ANGPTL3 | UBC, CCDC91, GULP1, FBXO28, BIRC6 |
- 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 DOCK7_ANGPTL3 |
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 DOCK7_ANGPTL3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DOCK7 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | ANGPTL3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |