![]() |
||||||
|
![]() | 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:TGFBR2-ADAM10 (FusionGDB2 ID:HG7048TG102) |
Fusion Gene Summary for TGFBR2-ADAM10 |
![]() |
Fusion gene information | Fusion gene name: TGFBR2-ADAM10 | Fusion gene ID: hg7048tg102 | Hgene | Tgene | Gene symbol | TGFBR2 | ADAM10 | Gene ID | 7048 | 102 |
Gene name | transforming growth factor beta receptor 2 | ADAM metallopeptidase domain 10 | |
Synonyms | AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII | AD10|AD18|CD156c|CDw156|HsT18717|MADM|RAK|kuz | |
Cytomap | ('TGFBR2')('ADAM10') 3p24.1 | 15q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | TGF-beta receptor type-2TGF-beta receptor type IIBTGF-beta type II receptortbetaR-IItransforming growth factor beta receptor IItransforming growth factor beta receptor type IICtransforming growth factor, beta receptor II (70/80kDa)transforming grow | disintegrin and metalloproteinase domain-containing protein 10a disintegrin and metalloprotease domain 10kuzbanian protein homologmammalian disintegrin-metalloprotease | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000295754, ENST00000359013, | ||
Fusion gene scores | * DoF score | 9 X 6 X 7=378 | 12 X 10 X 8=960 |
# samples | 9 | 13 | |
** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/960*10)=-2.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TGFBR2 [Title/Abstract] AND ADAM10 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | TGFBR2(30648469)-ADAM10(58891923), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | TGFBR2-ADAM10 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. TGFBR2-ADAM10 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. TGFBR2-ADAM10 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. TGFBR2-ADAM10 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. TGFBR2-ADAM10 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TGFBR2 | GO:0006468 | protein phosphorylation | 12015308 |
Hgene | TGFBR2 | GO:0006915 | apoptotic process | 17471240 |
Hgene | TGFBR2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 18453574 |
Hgene | TGFBR2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 26459119 |
Hgene | TGFBR2 | GO:0018105 | peptidyl-serine phosphorylation | 12015308 |
Hgene | TGFBR2 | GO:0018107 | peptidyl-threonine phosphorylation | 12015308 |
Hgene | TGFBR2 | GO:0042493 | response to drug | 17878231 |
Hgene | TGFBR2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 18453574 |
Hgene | TGFBR2 | GO:0070723 | response to cholesterol | 17878231 |
Hgene | TGFBR2 | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | 17164348 |
Tgene | ADAM10 | GO:0006509 | membrane protein ectodomain proteolysis | 12714508|17557115|18355449|18419754|18676862|19114711 |
Tgene | ADAM10 | GO:0007162 | negative regulation of cell adhesion | 12714508 |
Tgene | ADAM10 | GO:0034612 | response to tumor necrosis factor | 11831872 |
Tgene | ADAM10 | GO:0051089 | constitutive protein ectodomain proteolysis | 12714508 |
![]() * 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 | BRCA | TCGA-A8-A08P-01A | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
Top |
Fusion Gene ORF analysis for TGFBR2-ADAM10 |
![]() * 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 |
5CDS-intron | ENST00000295754 | ENST00000396140 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000295754 | ENST00000402627 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000295754 | ENST00000558733 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000295754 | ENST00000561288 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000359013 | ENST00000396140 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000359013 | ENST00000402627 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000359013 | ENST00000558733 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
5CDS-intron | ENST00000359013 | ENST00000561288 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
Frame-shift | ENST00000295754 | ENST00000260408 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
Frame-shift | ENST00000359013 | ENST00000260408 | TGFBR2 | chr3 | 30648469 | + | ADAM10 | chr15 | 58891923 | - |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for TGFBR2-ADAM10 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for TGFBR2-ADAM10 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:30648469/:58891923) - 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. |
![]() |
![]() |
Hgene | Tgene |
. | . |
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: 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 |
Top |
Fusion Gene Sequence for TGFBR2-ADAM10 |
![]() |
Top |
Fusion Gene PPI Analysis for TGFBR2-ADAM10 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for TGFBR2-ADAM10 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for TGFBR2-ADAM10 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TGFBR2 | C2674574 | Aortic aneurysm, familial thoracic 3 | 15 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | TGFBR2 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 14 | CLINGEN;GENOMICS_ENGLAND |
Hgene | TGFBR2 | C2697932 | Loeys-Dietz Syndrome | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | TGFBR2 | C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome | 7 | CTD_human;ORPHANET |
Hgene | TGFBR2 | C4551955 | Loeys-Dietz Syndrome, Type 1a | 5 | CTD_human |
Hgene | TGFBR2 | C0002949 | Aneurysm, Dissecting | 2 | CTD_human |
Hgene | TGFBR2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | TGFBR2 | C0340643 | Dissection of aorta | 2 | CTD_human |
Hgene | TGFBR2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
Hgene | TGFBR2 | C0920269 | Microsatellite Instability | 2 | CTD_human |
Hgene | TGFBR2 | C1721098 | Replication Error Phenotype | 2 | CTD_human |
Hgene | TGFBR2 | C4277533 | Dissection, Blood Vessel | 2 | CTD_human |
Hgene | TGFBR2 | C0003486 | Aortic Aneurysm | 1 | CTD_human |
Hgene | TGFBR2 | C0005940 | Bone Diseases | 1 | CTD_human |
Hgene | TGFBR2 | C0005967 | Bone neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0006118 | Brain Neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | TGFBR2 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | TGFBR2 | C0007852 | Cervical Migraine Syndrome | 1 | CTD_human |
Hgene | TGFBR2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | TGFBR2 | C0014859 | Esophageal Neoplasms | 1 | CGI;CTD_human |
Hgene | TGFBR2 | C0015393 | Eye Abnormalities | 1 | CTD_human |
Hgene | TGFBR2 | C0015672 | Fatigue | 1 | CTD_human |
Hgene | TGFBR2 | C0017667 | Nodular glomerulosclerosis | 1 | CTD_human |
Hgene | TGFBR2 | C0018984 | Hemicrania migraine | 1 | CTD_human |
Hgene | TGFBR2 | C0019294 | Hernia, Inguinal | 1 | CTD_human |
Hgene | TGFBR2 | C0019295 | Inguinal Hernia, Direct | 1 | CTD_human |
Hgene | TGFBR2 | C0019296 | Inguinal Hernia, Indirect | 1 | CTD_human |
Hgene | TGFBR2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0024796 | Marfan Syndrome | 1 | CTD_human |
Hgene | TGFBR2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | TGFBR2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | TGFBR2 | C0034067 | Pulmonary Emphysema | 1 | GENOMICS_ENGLAND |
Hgene | TGFBR2 | C0149931 | Migraine Disorders | 1 | CTD_human |
Hgene | TGFBR2 | C0152018 | Esophageal carcinoma | 1 | CGI;UNIPROT |
Hgene | TGFBR2 | C0153633 | Malignant neoplasm of brain | 1 | CTD_human |
Hgene | TGFBR2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Hgene | TGFBR2 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | TGFBR2 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | TGFBR2 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | TGFBR2 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | TGFBR2 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Hgene | TGFBR2 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | TGFBR2 | C0270858 | Abdominal Migraine | 1 | CTD_human |
Hgene | TGFBR2 | C0279530 | Malignant Bone Neoplasm | 1 | CTD_human |
Hgene | TGFBR2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | ORPHANET |
Hgene | TGFBR2 | C0338489 | Status Migrainosus | 1 | CTD_human |
Hgene | TGFBR2 | C0340630 | Aortic Aneurysm, Thoracoabdominal | 1 | CTD_human |
Hgene | TGFBR2 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | TGFBR2 | C0496899 | Benign neoplasm of brain, unspecified | 1 | CTD_human |
Hgene | TGFBR2 | C0521664 | Acute Confusional Migraine | 1 | CTD_human |
Hgene | TGFBR2 | C0546837 | Malignant neoplasm of esophagus | 1 | CGI;CTD_human |
Hgene | TGFBR2 | C0700438 | Sick Headaches | 1 | CTD_human |
Hgene | TGFBR2 | C0750974 | Brain Tumor, Primary | 1 | CTD_human |
Hgene | TGFBR2 | C0750977 | Recurrent Brain Neoplasm | 1 | CTD_human |
Hgene | TGFBR2 | C0750979 | Primary malignant neoplasm of brain | 1 | CTD_human |
Hgene | TGFBR2 | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 1 | CTD_human;ORPHANET |
Hgene | TGFBR2 | C1527390 | Neoplasms, Intracranial | 1 | CTD_human |
Hgene | TGFBR2 | C1860896 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | 1 | CTD_human;UNIPROT |
Hgene | TGFBR2 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
Hgene | TGFBR2 | C4552100 | Lynch Syndrome | 1 | CTD_human |
Hgene | TGFBR2 | C4721845 | Marfan Syndrome, Type I | 1 | CTD_human |
Tgene | C3810041 | ALZHEIMER DISEASE 18 | 2 | CTD_human;UNIPROT | |
Tgene | C0002395 | Alzheimer's Disease | 1 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0011265 | Presenile dementia | 1 | CTD_human | |
Tgene | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human | |
Tgene | C0406811 | Reticulate acropigmentation of Kitamura | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human | |
Tgene | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human | |
Tgene | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |