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Fusion gene ID: 16924 |
FusionGeneSummary for HSPG2_MYBPHL |
Fusion gene summary |
Fusion gene information | Fusion gene name: HSPG2_MYBPHL | Fusion gene ID: 16924 | Hgene | Tgene | Gene symbol | HSPG2 | MYBPHL | Gene ID | 3339 | 343263 |
Gene name | heparan sulfate proteoglycan 2 | myosin binding protein H like | |
Synonyms | HSPG|PLC|PRCAN|SJA|SJS|SJS1 | - | |
Cytomap | 1p36.12 | 1p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | basement membrane-specific heparan sulfate proteoglycan core proteinendorepellin (domain V region)perlecan proteoglycan | myosin-binding protein H-like | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P98160 | A2RUH7 | |
Ensembl transtripts involved in fusion gene | ENST00000486901, ENST00000374695, ENST00000430507, | ENST00000357155, ENST00000477962, | |
Fusion gene scores | * DoF score | 9 X 9 X 7=567 | 3 X 2 X 3=18 |
# samples | 10 | 3 | |
** MAII score | log2(10/567*10)=-2.5033487351675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: HSPG2 [Title/Abstract] AND MYBPHL [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 |
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 | STAD | TCGA-HU-A4HD-01A | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
* 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-3CDS | ENST00000486901 | ENST00000357155 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
intron-5UTR | ENST00000486901 | ENST00000477962 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
In-frame | ENST00000374695 | ENST00000357155 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
5CDS-5UTR | ENST00000374695 | ENST00000477962 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
intron-3CDS | ENST00000430507 | ENST00000357155 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
intron-5UTR | ENST00000430507 | ENST00000477962 | HSPG2 | chr1 | 22222415 | - | MYBPHL | chr1 | 109836871 | - |
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FusionProtFeatures for HSPG2_MYBPHL |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HSPG2 | MYBPHL |
Integral component of basement membranes. Component ofthe glomerular basement membrane (GBM), responsible for the fixednegative electrostatic membrane charge, and which provides abarrier which is both size- and charge-selective. It serves as anattachment substrate for cells. Plays essential roles invascularization. Critical for normal heart development and forregulating the vascular response to injury. Also required foravascular cartilage development. Endorepellin in an anti-angiogenic and anti-tumorpeptide that inhibits endothelial cell migration, collagen-inducedendothelial tube morphogenesis and blood vessel growth in thechorioallantoic membrane. Blocks endothelial cell adhesion tofibronectin and type I collagen. Anti-tumor agent inneovascularization. Interaction with its ligand, integrinalpha2/beta1, is required for the anti-angiogenic properties.Evokes a reduction in phosphorylation of receptor tyrosine kinasesvia alpha2/beta1 integrin-mediated activation of the tyrosinephosphatase, PTPN6. The LG3 peptide has anti-angiogenic properties thatrequire binding of calcium ions for full activity. |
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 HSPG2_MYBPHL |
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. |
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_85aa |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_255nt ATGGGGTGGCGGGCGGCGGGCGCGCTGCTGCTGGCGCTGCTGCTGCACGGGCGGCTGCTGGCGGTGACCCATGGGCTGAGGGCATACGAT GGCTTGTCTCTGCCTGAGGACATAGAGACCGTCACAGCAAGCCAAATGCGCTGGACACATTCGTACCTTTCTGATGATGAGGACATGCTG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_592nt GGCCGGCGAGCGGGCGGCTGCGGGCGGCGCGGAGCGGGCGGCGCGGAGCGAGCGAGCGAGAGAGCGGCGCGGGCCGGGCCATGGGGTGGC GGGCGGCGGGCGCGCTGCTGCTGGCGCTGCTGCTGCACGGGCGGCTGCTGGCGGTGACCCATGGGCTGAGGGCATACGATGGCTTGTCTC TGCCTGAGGACATAGAGACCGTCACAGCAAGCCAAATGCGCTGGACACATTCGTACCTTTCTGATGATGAGGACATGCTGGCTGACAGCA TCTCAGGAGACGACCTGGGCAGTGGGGACCTGGGCAGCGGGGACTTCCAGATGGTTCCTAATTGAGGACACCTAAGAAGGCATGGTACTC TGACAAAGCCAGTGCCCAGCAATGAAGTGAATTCATGGCACAGGAGCCAGGGACCGTGACAACGGTGCCCTCAGCAGCCTGGTGTCCTCT GGCCATTTGCTGTCATGGCTACAAAGTGCTCCCTCTTTTCAGTGCCTCCAGGAAGCCCGCCAGTGGTGAGACTGTGTCCTCAAGGAGCTT |
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FusionGenePPI for HSPG2_MYBPHL |
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 |
HSPG2 | FGF7, TTR, PRELP, FGFBP1, NID2, FN1, FBLN2, LAMA1, PDGFA, PDGFB, CACNA1A, ATN1, GFI1B, GRB2, FBXO6, TINAGL1, PSAT1, ADD1, TMPO, PTTG1, CCDC22, GAR1, KIF7, SKI, MCM2, ZNF408, UBC, TRIM25 | MYBPHL | FHL3, ZDHHC17, GFPT2, TTC19, CASK, PLEKHA6, TENC1 |
- 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 HSPG2_MYBPHL |
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 | HSPG2 | P98160 | DB00039 | Palifermin | Basement membrane-specific heparan sulfate proteoglycan core protein | biotech | approved |
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RelatedDiseases for HSPG2_MYBPHL |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HSPG2 | C0029422 | Osteochondrodysplasias | 2 | CTD_human;HPO |
Hgene | HSPG2 | C0036391 | Schwartz-Jampel Syndrome | 1 | ORPHANET;UNIPROT |
Hgene | HSPG2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | HSPG2 | C1857100 | Dyssegmental dysplasia | 1 | CTD_human;ORPHANET |