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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:BCR-RET (FusionGDB2 ID:HG613TG5979) |
Fusion Gene Summary for BCR-RET |
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Fusion gene information | Fusion gene name: BCR-RET | Fusion gene ID: hg613tg5979 | Hgene | Tgene | Gene symbol | BCR | RET | Gene ID | 613 | 5979 |
Gene name | BCR activator of RhoGEF and GTPase | ret proto-oncogene | |
Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1 | |
Cytomap | ('BCR')('RET') 22q11.23 | 10q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | breakpoint cluster region proteinBCR, RhoGEF and GTPase activating proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | P11274 | P07949 | |
Ensembl transtripts involved in fusion gene | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ||
Fusion gene scores | * DoF score | 22 X 142 X 16=49984 | 32 X 31 X 11=10912 |
# samples | 163 | 48 | |
** MAII score | log2(163/49984*10)=-4.93852248902354 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(48/10912*10)=-4.50673733341565 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BCR [Title/Abstract] AND RET [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | |||
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 | BCR | GO:0090630 | activation of GTPase activity | 7479768 |
Tgene | RET | GO:0030155 | regulation of cell adhesion | 21357690 |
Tgene | RET | GO:0030335 | positive regulation of cell migration | 20702524 |
Tgene | RET | GO:0033619 | membrane protein proteolysis | 21357690 |
Tgene | RET | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 20702524 |
Tgene | RET | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway | 28953886 |
Tgene | RET | GO:0043410 | positive regulation of MAPK cascade | 28846099 |
![]() * 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 |
ChimerKB4 | . | . | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
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Fusion Gene ORF analysis for BCR-RET |
![]() * 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 |
intron-intron | ENST00000305877 | ENST00000340058 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000305877 | ENST00000355710 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000359540 | ENST00000340058 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000359540 | ENST00000355710 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000398512 | ENST00000340058 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000398512 | ENST00000355710 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000436990 | ENST00000340058 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
intron-intron | ENST00000436990 | ENST00000355710 | BCR | chr22 | 23603541 | + | RET | chr10 | 23603541 | + |
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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 BCR-RET |
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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 BCR-RET |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - 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 |
BCR | RET |
FUNCTION: Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119). {ECO:0000250|UniProtKB:Q6PAJ1, ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:17116687, ECO:0000269|PubMed:1903516, ECO:0000269|PubMed:23940119, ECO:0000269|PubMed:7479768}. | FUNCTION: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration. Mediates, through interaction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways (PubMed:28846097, PubMed:28953886, PubMed:28846099). Isoform 1 in complex with GFRAL induces higher activation of MAPK-signaling pathway than isoform 2 in complex with GFRAL (PubMed:28846099). {ECO:0000269|PubMed:20064382, ECO:0000269|PubMed:20616503, ECO:0000269|PubMed:20702524, ECO:0000269|PubMed:21357690, ECO:0000269|PubMed:21454698, ECO:0000269|PubMed:28846097, ECO:0000269|PubMed:28846099, ECO:0000269|PubMed:28953886}. |
![]() * 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 BCR-RET |
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Fusion Gene PPI Analysis for BCR-RET |
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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 BCR-RET |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB05294 | Vandetanib | Small molecule | Approved | |
Tgene | RET | P07949 | DB05294 | Vandetanib | Small molecule | Approved | |
Tgene | RET | P07949 | DB05294 | Vandetanib | Small molecule | Approved | |
Tgene | RET | P07949 | DB05294 | Vandetanib | Small molecule | Approved | |
Tgene | RET | P07949 | DB05294 | Vandetanib | Small molecule | Approved | |
Tgene | RET | P07949 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | RET | P07949 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | RET | P07949 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | RET | P07949 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | RET | P07949 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | RET | P07949 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08875 | Cabozantinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08875 | Cabozantinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08875 | Cabozantinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08875 | Cabozantinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08875 | Cabozantinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | RET | P07949 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for BCR-RET |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BCR | C0005586 | Bipolar Disorder | 4 | PSYGENET |
Hgene | BCR | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;ORPHANET |
Hgene | BCR | C0005699 | Blast Phase | 1 | CTD_human |
Hgene | BCR | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Hgene | BCR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | BCR | C0027022 | Myeloproliferative disease | 1 | CTD_human |
Hgene | BCR | C0027540 | Necrosis | 1 | CTD_human |
Hgene | BCR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | BCR | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | BCR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | BCR | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Tgene | C1833921 | Familial medullary thyroid carcinoma | 23 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 16 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0025268 | Multiple Endocrine Neoplasia Type 2a | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 12 | CLINGEN | |
Tgene | C0025269 | Multiple Endocrine Neoplasia Type 2b | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0238463 | Papillary thyroid carcinoma | 3 | CTD_human;ORPHANET | |
Tgene | C1275808 | Congenital central hypoventilation | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1859049 | CCHS WITH HIRSCHSPRUNG DISEASE | 3 | CTD_human;ORPHANET | |
Tgene | C0009402 | Colorectal Carcinoma | 2 | CTD_human;UNIPROT | |
Tgene | C0009404 | Colorectal Neoplasms | 2 | CTD_human | |
Tgene | C0019569 | Hirschsprung Disease | 2 | CTD_human | |
Tgene | C0027662 | Multiple Endocrine Neoplasia | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0085758 | Aganglionosis, Colonic | 2 | CTD_human | |
Tgene | C0266294 | Unilateral agenesis of kidney | 2 | ORPHANET | |
Tgene | C1257840 | Aganglionosis, Rectosigmoid Colon | 2 | CTD_human | |
Tgene | C3661523 | Congenital Intestinal Aganglionosis | 2 | CTD_human | |
Tgene | C0006413 | Burkitt Lymphoma | 1 | CTD_human | |
Tgene | C0031511 | Pheochromocytoma | 1 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0038220 | Status Epilepticus | 1 | CTD_human | |
Tgene | C0040136 | Thyroid Neoplasm | 1 | CGI;CTD_human | |
Tgene | C0151468 | Thyroid Gland Follicular Adenoma | 1 | CTD_human | |
Tgene | C0206693 | Medullary carcinoma | 1 | CTD_human | |
Tgene | C0238462 | Medullary carcinoma of thyroid | 1 | CGI;CTD_human | |
Tgene | C0270823 | Petit mal status | 1 | CTD_human | |
Tgene | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human | |
Tgene | C0343640 | African Burkitt's lymphoma | 1 | CTD_human | |
Tgene | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human | |
Tgene | C0549473 | Thyroid carcinoma | 1 | CGI;CTD_human;UNIPROT | |
Tgene | C0740340 | Amyloidosis, Familial | 1 | CTD_human | |
Tgene | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human | |
Tgene | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human | |
Tgene | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human | |
Tgene | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human | |
Tgene | C1609433 | Congenital absence of kidneys syndrome | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C3501843 | Nonmedullary Thyroid Carcinoma | 1 | CTD_human | |
Tgene | C3501844 | Familial Nonmedullary Thyroid Cancer | 1 | CTD_human | |
Tgene | C4721444 | Burkitt Leukemia | 1 | CTD_human |