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Fusion gene ID: 15904 |
FusionGeneSummary for HCK_ENG |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HCK_ENG | Fusion gene ID: 15904 | Hgene | Tgene | Gene symbol | HCK | ENG | Gene ID | 3055 | 2022 |
| Gene name | HCK proto-oncogene, Src family tyrosine kinase | endoglin | |
| Synonyms | JTK9|p59Hck|p61Hck | END|HHT1|ORW1 | |
| Cytomap | 20q11.21 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase HCKhematopoietic cell kinasehemopoietic cell kinasep59-HCK/p60-HCK | endoglinCD105 antigen | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P08631 | P17813 | |
| Ensembl transtripts involved in fusion gene | ENST00000534862, ENST00000538448, ENST00000375862, ENST00000520553, ENST00000518730, ENST00000375852, | ENST00000373203, ENST00000344849, ENST00000480266, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 6 X 3=108 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HCK [Title/Abstract] AND ENG [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 | HCK | GO:0071801 | regulation of podosome assembly | 15998323 |
| Hgene | HCK | GO:2000251 | positive regulation of actin cytoskeleton reorganization | 15998323 |
| Tgene | ENG | GO:0001934 | positive regulation of protein phosphorylation | 12015308 |
| Tgene | ENG | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 12015308 |
| Tgene | ENG | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 15702480 |
| Tgene | ENG | GO:0030336 | negative regulation of cell migration | 19736306 |
| Tgene | ENG | GO:0030513 | positive regulation of BMP signaling pathway | 17068149 |
| Tgene | ENG | GO:0031953 | negative regulation of protein autophosphorylation | 12015308 |
| 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 | BI026800 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + | ||
| ChiTaRS3.1 | BI026773 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| * 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 | ENST00000534862 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000534862 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000534862 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000538448 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000538448 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000538448 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375862 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375862 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375862 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000520553 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000520553 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000520553 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000518730 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000518730 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000518730 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375852 | ENST00000373203 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375852 | ENST00000344849 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
| intron-intron | ENST00000375852 | ENST00000480266 | HCK | chr20 | 30669564 | - | ENG | chr9 | 130588650 | + |
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FusionProtFeatures for HCK_ENG |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HCK | ENG |
| Vascular endothelium glycoprotein that plays animportant role in the regulation of angiogenesis (PubMed:21737454,PubMed:23300529). Required for normal structure and integrity ofadult vasculature (PubMed:7894484). Regulates the migration ofvascular endothelial cells (PubMed:17540773). Required for normalextraembryonic angiogenesis and for embryonic heart development(By similarity). May regulate endothelial cell shape changes inresponse to blood flow, which drive vascular remodeling andestablishment of normal vascular morphology during angiogenesis(By similarity). May play a critical role in the binding ofendothelial cells to integrins and/or other RGD receptors(PubMed:1692830). Acts as TGF-beta coreceptor and is involved inthe TGF-beta/BMP signaling cascade that ultimately leads to theactivation of SMAD transcription factors (PubMed:8370410,PubMed:21737454, PubMed:22347366, PubMed:23300529). Required forGDF2/BMP9 signaling through SMAD1 in endothelial cells andmodulates TGFB1 signaling through SMAD3 (PubMed:21737454,PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961,ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454,ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484,ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}. |
| 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 HCK_ENG |
| 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 HCK_ENG |
| 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 HCK_ENG |
| 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 |
| Hgene | HCK | P08631 | DB06616 | Bosutinib | Tyrosine-protein kinase HCK | small molecule | approved |
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RelatedDiseases for HCK_ENG |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HCK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | HCK | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Tgene | ENG | C0039445 | Hereditary hemorrhagic telangiectasia | 12 | CTD_human;ORPHANET;UNIPROT |
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