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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:COL5A1-IGLC2 (FusionGDB2 ID:HG1289TG3538) |
Fusion Gene Summary for COL5A1-IGLC2 |
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Fusion gene information | Fusion gene name: COL5A1-IGLC2 | Fusion gene ID: hg1289tg3538 | Hgene | Tgene | Gene symbol | COL5A1 | IGLC2 | Gene ID | 1289 | 3538 |
Gene name | collagen type V alpha 1 chain | ||
Synonyms | EDSC|EDSCL1 | ||
Cytomap | ('COL5A1')('IGLC2') 9q34.3 | ||
Type of gene | protein-coding | ||
Description | collagen alpha-1(V) chaincollagen, type V, alpha 1 | ||
Modification date | 20200313 | ||
UniProtAcc | P20908 | P0DOY2 | |
Ensembl transtripts involved in fusion gene | ENST00000371817, ENST00000464187, | ||
Fusion gene scores | * DoF score | 11 X 10 X 8=880 | 40 X 15 X 15=9000 |
# samples | 12 | 39 | |
** MAII score | log2(12/880*10)=-2.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/9000*10)=-4.52837897235479 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL5A1 [Title/Abstract] AND IGLC2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COL5A1(137734937)-IGLC2(23241800), # 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 | COL5A1 | GO:1903225 | negative regulation of endodermal cell differentiation | 23154389 |
![]() * 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 |
ChimerDB4 | HNSC | TCGA-CN-4733 | COL5A1 | chr9 | 137734937 | + | IGLC2 | chr22 | 23241800 | + |
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Fusion Gene ORF analysis for COL5A1-IGLC2 |
![]() * 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 |
3UTR-intron | ENST00000371817 | ENST00000390323 | COL5A1 | chr9 | 137734937 | + | IGLC2 | chr22 | 23241800 | + |
intron-intron | ENST00000464187 | ENST00000390323 | COL5A1 | chr9 | 137734937 | + | IGLC2 | chr22 | 23241800 | + |
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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 COL5A1-IGLC2 |
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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 COL5A1-IGLC2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:137734937/:23241800) - 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 |
COL5A1 | IGLC2 |
FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. | FUNCTION: Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. |
![]() * 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 COL5A1-IGLC2 |
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Fusion Gene PPI Analysis for COL5A1-IGLC2 |
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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 COL5A1-IGLC2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for COL5A1-IGLC2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL5A1 | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 7 | GENOMICS_ENGLAND;UNIPROT |
Hgene | COL5A1 | C0268335 | Ehlers-Danlos syndrome type 1 | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL5A1 | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 2 | ORPHANET |
Hgene | COL5A1 | C0268336 | Ehlers-Danlos syndrome type 2 | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL5A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL5A1 | C0000822 | Abortion, Tubal | 1 | CTD_human |
Hgene | COL5A1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | COL5A1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | COL5A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL5A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL5A1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | COL5A1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | COL5A1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | COL5A1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | COL5A1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | COL5A1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | COL5A1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | COL5A1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | COL5A1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | COL5A1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | COL5A1 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
Hgene | COL5A1 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Hgene | COL5A1 | C4225429 | Ehlers-Danlos syndrome classic type | 1 | GENOMICS_ENGLAND |
Hgene | COL5A1 | C4552766 | Miscarriage | 1 | CTD_human |