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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10412

FusionGeneSummary for DOCK7_ANGPTL3

check button Fusion gene summary
Fusion gene informationFusion gene name: DOCK7_ANGPTL3
Fusion gene ID: 10412
HgeneTgene
Gene symbol

DOCK7

ANGPTL3

Gene ID

85440

27329

Gene namededicator of cytokinesis 7angiopoietin like 3
SynonymsEIEE23|ZIR2ANG-5|ANGPT5|ANL3|FHBL2
Cytomap

1p31.3

1p31.3

Type of geneprotein-codingprotein-coding
Descriptiondedicator of cytokinesis protein 7angiopoietin-related protein 3angiopoietin 5
Modification date2018052320180519
UniProtAcc

Q96N67

Q9Y5C1

Ensembl transtripts involved in fusion geneENST00000251157, ENST00000340370, 
ENST00000489185, ENST00000404627, 
ENST00000371129, ENST00000493994, 
Fusion gene scores* DoF score7 X 4 X 5=1401 X 1 X 1=1
# samples 61
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDOCK7

GO:0090630

activation of GTPase activity

16982419

TgeneANGPTL3

GO:0006071

glycerol metabolic process

12565906

TgeneANGPTL3

GO:0006631

fatty acid metabolic process

12565906

TgeneANGPTL3

GO:0006644

phospholipid metabolic process

17110602

TgeneANGPTL3

GO:0007165

signal transduction

11877390

TgeneANGPTL3

GO:0008203

cholesterol metabolic process

17110602

TgeneANGPTL3

GO:0009395

phospholipid catabolic process

17110602

TgeneANGPTL3

GO:0010519

negative regulation of phospholipase activity

17110602

TgeneANGPTL3

GO:0019915

lipid storage

12565906

TgeneANGPTL3

GO:0030335

positive regulation of cell migration

11877390

TgeneANGPTL3

GO:0042632

cholesterol homeostasis

17110602

TgeneANGPTL3

GO:0045766

positive regulation of angiogenesis

11877390

TgeneANGPTL3

GO:0050996

positive regulation of lipid catabolic process

12565906

TgeneANGPTL3

GO:0051005

negative regulation of lipoprotein lipase activity

17110602|19542565

TgeneANGPTL3

GO:0055088

lipid homeostasis

17110602

TgeneANGPTL3

GO:0055090

acylglycerol homeostasis

17110602

TgeneANGPTL3

GO:0055091

phospholipid homeostasis

17110602


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-25-1630-01ADOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000251157ENST00000371129DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
5CDS-intronENST00000251157ENST00000493994DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
Frame-shiftENST00000340370ENST00000371129DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
5CDS-intronENST00000340370ENST00000493994DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
intron-3CDSENST00000489185ENST00000371129DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
intron-intronENST00000489185ENST00000493994DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
Frame-shiftENST00000404627ENST00000371129DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+
5CDS-intronENST00000404627ENST00000493994DOCK7chr1

63153898

-ANGPTL3chr1

63063278

+

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FusionProtFeatures for DOCK7_ANGPTL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DOCK7

Q96N67

ANGPTL3

Q9Y5C1

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for DOCK7_ANGPTL3


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
DOCK7TSC1, 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, UBE2AANGPTL3UBC, CCDC91, GULP1, FBXO28, BIRC6


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for DOCK7_ANGPTL3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DOCK7_ANGPTL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOCK7C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneANGPTL3C0023893Liver Cirrhosis, Experimental1CTD_human