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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:COL1A1-TNXB (FusionGDB2 ID:HG1277TG7148) |
Fusion Gene Summary for COL1A1-TNXB |
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Fusion gene information | Fusion gene name: COL1A1-TNXB | Fusion gene ID: hg1277tg7148 | Hgene | Tgene | Gene symbol | COL1A1 | TNXB | Gene ID | 1277 | 7148 |
Gene name | collagen type I alpha 1 chain | tenascin XB | |
Synonyms | CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | EDS3|EDSCLL|EDSCLL1|HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|VUR8|XB|XBS | |
Cytomap | ('COL1A1')('TNXB') 17q21.33 | 6p21.33-p21.32 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | tenascin-Xgrowth-inhibiting protein 45hexabrachion-like proteintenascin XB1tenascin XB2 | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | P02452 | . | |
Ensembl transtripts involved in fusion gene | ENST00000225964, | ||
Fusion gene scores | * DoF score | 56 X 95 X 16=85120 | 6 X 6 X 5=180 |
# samples | 86 | 7 | |
** MAII score | log2(86/85120*10)=-6.62901768079909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL1A1 [Title/Abstract] AND TNXB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COL1A1(48261534)-TNXB(32021323), # 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 | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
![]() * 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 COL1A1-TNXB |
![]() * 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 COL1A1-TNXB |
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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 COL1A1-TNXB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48261534/:32021323) - 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 |
COL1A1 | . |
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen). | 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 COL1A1-TNXB |
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Fusion Gene PPI Analysis for COL1A1-TNXB |
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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 COL1A1-TNXB |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB12872 | Vonicog Alfa | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Binder | Biotech | Approved|Investigational |
Hgene | COL1A1 | P02452 | DB11338 | Clove oil | Biotech | Approved|Nutraceutical | |
Hgene | COL1A1 | P02452 | DB04866 | Halofuginone | Small molecule | Investigational|Vet_approved |
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Related Diseases for COL1A1-TNXB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 38 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023931 | Lobstein Disease | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 12 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
Hgene | COL1A1 | C0239946 | Fibrosis, Liver | 4 | CTD_human |
Hgene | COL1A1 | C4551623 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | 4 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL1A1 | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 4 | GENOMICS_ENGLAND;UNIPROT |
Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Hgene | COL1A1 | C0268345 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | 2 | ORPHANET |
Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL1A1 | C0000822 | Abortion, Tubal | 1 | CTD_human |
Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | COL1A1 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | COL1A1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
Hgene | COL1A1 | C0013720 | Ehlers-Danlos Syndrome | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL1A1 | C0027719 | Nephrosclerosis | 1 | CTD_human |
Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL1A1 | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 1 | ORPHANET |
Hgene | COL1A1 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0340643 | Dissection of aorta | 1 | CTD_human |
Hgene | COL1A1 | C0521174 | Microcalcification | 1 | CTD_human |
Hgene | COL1A1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
Hgene | COL1A1 | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | COL1A1 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
Hgene | COL1A1 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Hgene | COL1A1 | C4277533 | Dissection, Blood Vessel | 1 | CTD_human |
Hgene | COL1A1 | C4552766 | Miscarriage | 1 | CTD_human |
Tgene | C1848029 | Ehlers-Danlos syndrome caused by tenascin-X deficiency | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0036341 | Schizophrenia | 3 | PSYGENET | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C4014831 | VESICOURETERAL REFLUX 8 | 1 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4706552 | Familial vesicoureteral reflux | 1 | ORPHANET |