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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:ADAMTS1-C1S (FusionGDB2 ID:HG9510TG716) |
Fusion Gene Summary for ADAMTS1-C1S |
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Fusion gene information | Fusion gene name: ADAMTS1-C1S | Fusion gene ID: hg9510tg716 | Hgene | Tgene | Gene symbol | ADAMTS1 | C1S | Gene ID | 9510 | 716 |
Gene name | ADAM metallopeptidase with thrombospondin type 1 motif 1 | complement C1s | |
Synonyms | C3-C5|METH1 | EDSPD2 | |
Cytomap | ('ADAMTS1')('C1S') 21q21.3 | 12p13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | A disintegrin and metalloproteinase with thrombospondin motifs 1ADAM-TS 1ADAM-TS1ADAMTS-1METH-1a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1human metalloproteinase with thrombospondin type 1 motifs | complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | P09871 | |
Ensembl transtripts involved in fusion gene | ENST00000284984, | ||
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 10 X 11 X 3=330 |
# samples | 2 | 10 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(10/330*10)=-1.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ADAMTS1 [Title/Abstract] AND C1S [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ADAMTS1(28217251)-C1S(7168070), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
Hgene | ADAMTS1 | GO:0016525 | negative regulation of angiogenesis | 10438512 |
![]() * 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 ADAMTS1-C1S |
![]() * 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 ADAMTS1-C1S |
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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 ADAMTS1-C1S |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:28217251/:7168070) - 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: 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}. | 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. |
![]() * 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 ADAMTS1-C1S |
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Fusion Gene PPI Analysis for ADAMTS1-C1S |
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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 ADAMTS1-C1S |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | C1S | P09871 | DB06404 | Human C1-esterase inhibitor | Inhibitor | Biotech | Approved |
Tgene | C1S | P09871 | DB14548 | Zinc sulfate, unspecified form | Modulator | Small molecule | Approved|Experimental |
Tgene | C1S | P09871 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
Tgene | C1S | P09871 | DB09130 | Copper | Small molecule | Approved|Investigational | |
Tgene | C1S | P09871 | DB09228 | Conestat alfa | Inhibitor | Biotech | Approved|Investigational |
Tgene | C1S | P09871 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
Tgene | C1S | P09871 | DB14533 | Zinc chloride | Modulator | Small molecule | Approved|Investigational |
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Related Diseases for ADAMTS1-C1S |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ADAMTS1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | ADAMTS1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | ADAMTS1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | ADAMTS1 | C0011265 | Presenile dementia | 1 | CTD_human |
Hgene | ADAMTS1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | ADAMTS1 | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Hgene | ADAMTS1 | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Hgene | ADAMTS1 | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Hgene | ADAMTS1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | ADAMTS1 | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Hgene | ADAMTS1 | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Hgene | ADAMTS1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | ADAMTS1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ADAMTS1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | ADAMTS1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C4310681 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0004364 | Autoimmune Diseases | 1 | CTD_human | |
Tgene | C0024141 | Lupus Erythematosus, Systemic | 1 | GENOMICS_ENGLAND | |
Tgene | C0241910 | Autoimmune Chronic Hepatitis | 1 | CTD_human | |
Tgene | C0268347 | Ehlers-Danlos Syndrome, Type VIII | 1 | ORPHANET | |
Tgene | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND | |
Tgene | C0677607 | Hashimoto Disease | 1 | CTD_human | |
Tgene | C1862892 | Hereditary Angioedema Type II | 1 | CTD_human | |
Tgene | C2717905 | Hereditary Angioedema Types I and II | 1 | CTD_human | |
Tgene | C2717906 | Hereditary Angioedema Type I | 1 | CTD_human | |
Tgene | C3151078 | Complement Component C1s Deficiency | 1 | CTD_human;GENOMICS_ENGLAND |