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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:BBS10-FGFR3 (FusionGDB2 ID:HG79738TG2261) |
Fusion Gene Summary for BBS10-FGFR3 |
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Fusion gene information | Fusion gene name: BBS10-FGFR3 | Fusion gene ID: hg79738tg2261 | Hgene | Tgene | Gene symbol | BBS10 | FGFR3 | Gene ID | 79738 | 2261 |
Gene name | Bardet-Biedl syndrome 10 | fibroblast growth factor receptor 3 | |
Synonyms | C12orf58 | ACH|CD333|CEK2|HSFGFR3EX|JTK4 | |
Cytomap | ('BBS10')('FGFR3') 12q21.2 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | Bardet-Biedl syndrome 10 protein | fibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | P22607 | |
Ensembl transtripts involved in fusion gene | ENST00000393262, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 11 X 9=594 |
# samples | 1 | 9 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/594*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BBS10 [Title/Abstract] AND FGFR3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BBS10(76740240)-FGFR3(1810437), # 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 |
Tgene | FGFR3 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044 |
Tgene | FGFR3 | GO:0018108 | peptidyl-tyrosine phosphorylation | 11294897 |
Tgene | FGFR3 | GO:0046777 | protein autophosphorylation | 11294897 |
![]() * 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 BBS10-FGFR3 |
![]() * 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 BBS10-FGFR3 |
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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 BBS10-FGFR3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:76740240/:1810437) - 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 |
. | FGFR3 |
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: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538, ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467, ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672, ECO:0000269|PubMed:8663044}. |
![]() * 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 BBS10-FGFR3 |
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Fusion Gene PPI Analysis for BBS10-FGFR3 |
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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 BBS10-FGFR3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | FGFR3 | P22607 | DB06589 | Pazopanib | Inhibitor | Small molecule | Approved |
Tgene | FGFR3 | P22607 | DB06589 | Pazopanib | Inhibitor | Small molecule | Approved |
Tgene | FGFR3 | P22607 | DB09079 | Nintedanib | Inhibitor | Small molecule | Approved |
Tgene | FGFR3 | P22607 | DB09079 | Nintedanib | Inhibitor | Small molecule | Approved |
Tgene | FGFR3 | P22607 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB09078 | Lenvatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB12147 | Erdafitinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB12147 | Erdafitinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB15102 | Pemigatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB15102 | Pemigatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | FGFR3 | P22607 | DB15685 | Selpercatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for BBS10-FGFR3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BBS10 | C1859568 | BARDET-BIEDL SYNDROME 10 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BBS10 | C0752166 | Bardet-Biedl Syndrome | 2 | ORPHANET |
Tgene | C0001080 | Achondroplasia | 13 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0410529 | Hypochondroplasia (disorder) | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1864436 | Muenke Syndrome | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | 9 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C2677099 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 6 | CGI;CTD_human;UNIPROT | |
Tgene | C0005695 | Bladder Neoplasm | 4 | CGI;CTD_human | |
Tgene | C1300257 | Thanatophoric dysplasia, type 2 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1864852 | CATSHL syndrome | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C2674173 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0265269 | Lacrimoauriculodentodigital syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human | |
Tgene | C0008924 | Cleft upper lip | 1 | CTD_human | |
Tgene | C0008925 | Cleft Palate | 1 | CTD_human | |
Tgene | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND | |
Tgene | C0014547 | Epilepsies, Partial | 1 | GENOMICS_ENGLAND | |
Tgene | C0022603 | Seborrheic keratosis | 1 | UNIPROT | |
Tgene | C0026764 | Multiple Myeloma | 1 | CGI;CTD_human | |
Tgene | C0036631 | Seminoma | 1 | CTD_human | |
Tgene | C0039743 | Thanatophoric Dysplasia | 1 | CTD_human | |
Tgene | C0152423 | Congenital small ears | 1 | GENOMICS_ENGLAND | |
Tgene | C0206726 | gliosarcoma | 1 | ORPHANET | |
Tgene | C0221356 | Brachycephaly | 1 | ORPHANET | |
Tgene | C0265529 | Plagiocephaly | 1 | ORPHANET | |
Tgene | C0334082 | NEVUS, EPIDERMAL (disorder) | 1 | CTD_human;UNIPROT | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | ORPHANET | |
Tgene | C0406803 | Syringocystadenoma Papilliferum | 1 | GENOMICS_ENGLAND | |
Tgene | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human;UNIPROT | |
Tgene | C1837218 | Cleft palate, isolated | 1 | CTD_human | |
Tgene | C4048328 | cervical cancer | 1 | CTD_human;UNIPROT |