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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:C1S-SPARC (FusionGDB2 ID:HG716TG6678) |
Fusion Gene Summary for C1S-SPARC |
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Fusion gene information | Fusion gene name: C1S-SPARC | Fusion gene ID: hg716tg6678 | Hgene | Tgene | Gene symbol | C1S | SPARC | Gene ID | 716 | 6678 |
Gene name | complement C1s | secreted protein acidic and cysteine rich | |
Synonyms | EDSPD2 | BM-40|OI17|ON|ONT | |
Cytomap | ('C1S')('SPARC') 12p13.31 | 5q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent | SPARCbasement-membrane protein 40secreted protein, acidic, cysteine-rich (osteonectin) | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | P09871 | . | |
Ensembl transtripts involved in fusion gene | ENST00000328916, ENST00000360817, ENST00000402681, ENST00000406697, ENST00000495061, | ||
Fusion gene scores | * DoF score | 11 X 10 X 6=660 | 34 X 31 X 7=7378 |
# samples | 11 | 38 | |
** MAII score | log2(11/660*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(38/7378*10)=-4.27915846536387 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C1S [Title/Abstract] AND SPARC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | C1S(7177841)-SPARC(151043681), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | C1S-SPARC seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. C1S-SPARC seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SPARC | GO:0001937 | negative regulation of endothelial cell proliferation | 12867428 |
Tgene | SPARC | GO:0010595 | positive regulation of endothelial cell migration | 12867428 |
Tgene | SPARC | GO:0016525 | negative regulation of angiogenesis | 12867428 |
Tgene | SPARC | GO:0022604 | regulation of cell morphogenesis | 15389586 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for C1S-SPARC |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for C1S-SPARC |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for C1S-SPARC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7177841/:151043681) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
C1S | . |
FUNCTION: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for C1S-SPARC |
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Fusion Gene PPI Analysis for C1S-SPARC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for C1S-SPARC |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | C1S | P09871 | DB06404 | Human C1-esterase inhibitor | Inhibitor | Biotech | Approved |
Hgene | C1S | P09871 | DB14548 | Zinc sulfate, unspecified form | Modulator | Small molecule | Approved|Experimental |
Hgene | C1S | P09871 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
Hgene | C1S | P09871 | DB09130 | Copper | Small molecule | Approved|Investigational | |
Hgene | C1S | P09871 | DB09228 | Conestat alfa | Inhibitor | Biotech | Approved|Investigational |
Hgene | C1S | P09871 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
Hgene | C1S | P09871 | DB14533 | Zinc chloride | Modulator | Small molecule | Approved|Investigational |
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Related Diseases for C1S-SPARC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C1S | C4310681 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | C1S | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | C1S | C0024141 | Lupus Erythematosus, Systemic | 1 | GENOMICS_ENGLAND |
Hgene | C1S | C0241910 | Autoimmune Chronic Hepatitis | 1 | CTD_human |
Hgene | C1S | C0268347 | Ehlers-Danlos Syndrome, Type VIII | 1 | ORPHANET |
Hgene | C1S | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
Hgene | C1S | C0677607 | Hashimoto Disease | 1 | CTD_human |
Hgene | C1S | C1862892 | Hereditary Angioedema Type II | 1 | CTD_human |
Hgene | C1S | C2717905 | Hereditary Angioedema Types I and II | 1 | CTD_human |
Hgene | C1S | C2717906 | Hereditary Angioedema Type I | 1 | CTD_human |
Hgene | C1S | C3151078 | Complement Component C1s Deficiency | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human | |
Tgene | C0029434 | Osteogenesis Imperfecta | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0007102 | Malignant tumor of colon | 1 | CTD_human | |
Tgene | C0009375 | Colonic Neoplasms | 1 | CTD_human | |
Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human | |
Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C0019158 | Hepatitis | 1 | CTD_human | |
Tgene | C0020429 | Hyperalgesia | 1 | CTD_human | |
Tgene | C0022658 | Kidney Diseases | 1 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
Tgene | C0023890 | Liver Cirrhosis | 1 | CTD_human | |
Tgene | C0023931 | Lobstein Disease | 1 | CTD_human | |
Tgene | C0024031 | Low Back Pain | 1 | CTD_human | |
Tgene | C0026764 | Multiple Myeloma | 1 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
Tgene | C0027540 | Necrosis | 1 | CTD_human | |
Tgene | C0027659 | Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0040034 | Thrombocytopenia | 1 | CTD_human | |
Tgene | C0041948 | Uremia | 1 | CTD_human | |
Tgene | C0043094 | Weight Gain | 1 | CTD_human | |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C0158266 | Intervertebral Disc Degeneration | 1 | CTD_human | |
Tgene | C0206686 | Adrenocortical carcinoma | 1 | CTD_human | |
Tgene | C0239946 | Fibrosis, Liver | 1 | CTD_human | |
Tgene | C0268363 | Osteogenesis imperfecta type IV (disorder) | 1 | ORPHANET | |
Tgene | C0423682 | Low Back Pain, Mechanical | 1 | CTD_human | |
Tgene | C0423689 | Low Back Pain, Posterior Compartment | 1 | CTD_human | |
Tgene | C0458247 | Allodynia | 1 | CTD_human | |
Tgene | C0577660 | Low Back Pain, Postural | 1 | CTD_human | |
Tgene | C0751211 | Hyperalgesia, Primary | 1 | CTD_human | |
Tgene | C0751212 | Hyperalgesia, Secondary | 1 | CTD_human | |
Tgene | C0751213 | Tactile Allodynia | 1 | CTD_human | |
Tgene | C0751214 | Hyperalgesia, Thermal | 1 | CTD_human | |
Tgene | C0751648 | Recurrent Low Back Pain | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human | |
Tgene | C2717759 | Degenerative Intervertebral Discs | 1 | CTD_human | |
Tgene | C2936719 | Mechanical Allodynia | 1 | CTD_human | |
Tgene | C4225301 | OSTEOGENESIS IMPERFECTA, TYPE XVII | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |