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Fusion gene ID: 35552 |
FusionGeneSummary for SPARC_COL2A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPARC_COL2A1 | Fusion gene ID: 35552 | Hgene | Tgene | Gene symbol | SPARC | COL2A1 | Gene ID | 6678 | 1280 |
| Gene name | secreted protein acidic and cysteine rich | collagen type II alpha 1 chain | |
| Synonyms | BM-40|OI17|ON | ANFH|AOM|COL11A3|SEDC|STL1 | |
| Cytomap | 5q33.1 | 12q13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SPARCbasement-membrane protein 40secreted protein, acidic, cysteine-rich (osteonectin) | collagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P09486 | P02458 | |
| Ensembl transtripts involved in fusion gene | ENST00000231061, ENST00000537849, | ENST00000380518, ENST00000493991, ENST00000337299, | |
| Fusion gene scores | * DoF score | 12 X 16 X 5=960 | 5 X 6 X 4=120 |
| # samples | 18 | 6 | |
| ** MAII score | log2(18/960*10)=-2.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPARC [Title/Abstract] AND COL2A1 [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 | SPARC | GO:0001937 | negative regulation of endothelial cell proliferation | 12867428 |
| Hgene | SPARC | GO:0010595 | positive regulation of endothelial cell migration | 12867428 |
| Hgene | SPARC | GO:0016525 | negative regulation of angiogenesis | 12867428 |
| Hgene | SPARC | GO:0022604 | regulation of cell morphogenesis | 15389586 |
| 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 | DV462786 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| * 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-3UTR | ENST00000231061 | ENST00000380518 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| intron-5UTR | ENST00000231061 | ENST00000493991 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| intron-intron | ENST00000231061 | ENST00000337299 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| intron-3UTR | ENST00000537849 | ENST00000380518 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| intron-5UTR | ENST00000537849 | ENST00000493991 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
| intron-intron | ENST00000537849 | ENST00000337299 | SPARC | chr5 | 151042263 | - | COL2A1 | chr12 | 48367008 | - |
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FusionProtFeatures for SPARC_COL2A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPARC | COL2A1 |
| Appears to regulate cell growth through interactionswith the extracellular matrix and cytokines. Binds calcium andcopper, several types of collagen, albumin, thrombospondin, PDGFand cell membranes. There are two calcium binding sites; an acidicdomain that binds 5 to 8 Ca(2+) with a low affinity and an EF-handloop that binds a Ca(2+) ion with a high affinity. |
| 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 SPARC_COL2A1 |
| 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 SPARC_COL2A1 |
| 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 SPARC_COL2A1 |
| 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 | SPARC | P09486 | DB11093 | Calcium Citrate | SPARC | small molecule | approved |
| Hgene | SPARC | P09486 | DB11348 | Calcium Phosphate | SPARC | small molecule | approved |
| Tgene | COL2A1 | P02458 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(II) chain {ECO:0000305} | biotech | approved|investigational |
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RelatedDiseases for SPARC_COL2A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SPARC | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Hgene | SPARC | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | SPARC | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | SPARC | C0019158 | Hepatitis | 1 | CTD_human |
| Hgene | SPARC | C0020429 | Hyperalgesia | 1 | CTD_human |
| Hgene | SPARC | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | SPARC | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Hgene | SPARC | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | SPARC | C0024031 | Low Back Pain | 1 | CTD_human |
| Hgene | SPARC | C0026764 | Multiple Myeloma | 1 | CTD_human |
| Hgene | SPARC | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | SPARC | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | SPARC | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
| Hgene | SPARC | C0041948 | Uremia | 1 | CTD_human |
| Hgene | SPARC | C0043094 | Weight Gain | 1 | CTD_human |
| Hgene | SPARC | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | SPARC | C0158266 | Intervertebral Disc Degeneration | 1 | CTD_human |
| Hgene | SPARC | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Hgene | SPARC | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | SPARC | C4225301 | OSTEOGENESIS IMPERFECTA, TYPE XVII | 1 | UNIPROT |
| Tgene | COL2A1 | C0220685 | Achondrogenesis type 2 | 9 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C0993582 | Arthritis, Experimental | 7 | CTD_human |
| Tgene | COL2A1 | C2745959 | Spondyloepiphyseal dysplasia, congenita | 7 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C1858079 | Osteoarthritis with Mild Chondrodysplasia | 5 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C1836080 | Stickler Syndrome, Type I, Nonsyndromic Ocular | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C1836683 | Czech dysplasia, metatarsal type | 4 | ORPHANET;UNIPROT |
| Tgene | COL2A1 | C0410480 | Avascular Necrosis of Femur Head | 3 | ORPHANET;UNIPROT |
| Tgene | COL2A1 | C1835437 | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C0003864 | Arthritis | 2 | CTD_human |
| Tgene | COL2A1 | C0029408 | Degenerative polyarthritis | 2 | CTD_human;HPO |
| Tgene | COL2A1 | C0265279 | Kniest dysplasia | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | COL2A1 | C0700635 | Strudwick syndrome | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C1851536 | Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C2020284 | Stickler syndrome, type 1 | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL2A1 | C0008479 | Chondrosarcoma | 1 | CTD_human |
| Tgene | COL2A1 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0013604 | Edema | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0020507 | Hyperplasia | 1 | CTD_human |
| Tgene | COL2A1 | C0021368 | Inflammation | 1 | CTD_human |
| Tgene | COL2A1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | COL2A1 | C0027092 | Myopia | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0029422 | Osteochondrodysplasias | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0035305 | Retinal Detachment | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C0039103 | Synovitis | 1 | CTD_human |
| Tgene | COL2A1 | C0041834 | Erythema | 1 | CTD_human |
| Tgene | COL2A1 | C0086543 | Cataract | 1 | CTD_human;HPO |
| Tgene | COL2A1 | C1262477 | Weight decreased | 1 | CTD_human |
| Tgene | COL2A1 | C1840452 | Hyaloideoretinal degeneration of Wagner | 1 | CTD_human |
| Tgene | COL2A1 | C1855310 | Megaepiphyseal dwarfism | 1 | CTD_human |
| Tgene | COL2A1 | C4225273 | SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE | 1 | ORPHANET;UNIPROT |
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