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Fusion gene ID: 3886 |
FusionGeneSummary for BBS10_FGFR3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBS10_FGFR3 | Fusion gene ID: 3886 | 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 | 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 4hydroxyaryl-protein kinasetyrosine kinase JTK4 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8TAM1 | P22607 | |
| Ensembl transtripts involved in fusion gene | ENST00000393262, | ENST00000481110, ENST00000440486, ENST00000412135, ENST00000340107, ENST00000260795, ENST00000352904, ENST00000474521, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 6 X 6=108 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/108*10)=-0.84799690655495 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] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF842660 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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-3UTR | ENST00000393262 | ENST00000481110 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000440486 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000412135 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000340107 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000260795 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000352904 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-intron | ENST00000393262 | ENST00000474521 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
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FusionProtFeatures for BBS10_FGFR3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BBS10 | FGFR3 |
| Probable molecular chaperone. Assists the folding ofproteins upon ATP hydrolysis. As part of the BBS/CCT complex mayplay a role in the assembly of BBSome, a complex involved inciliogenesis regulating transports vesicles to the cilia. Involvedin adipogenic differentiation. {ECO:0000269|PubMed:19190184,ECO:0000269|PubMed:20080638}. | Tyrosine-protein kinase that acts as cell-surfacereceptor for fibroblast growth factors and plays an essential rolein the regulation of cell proliferation, differentiation andapoptosis. Plays an essential role in the regulation ofchondrocyte differentiation, proliferation and apoptosis, and isrequired for normal skeleton development. Regulates bothosteogenesis and postnatal bone mineralization by osteoblasts.Promotes apoptosis in chondrocytes, but can also promote cancercell proliferation. Required for normal development of the innerear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads tothe activation of several signaling cascades. Activation of PLCG1leads to the production of the cellular signaling moleculesdiacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylationof FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, andmediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAPkinase signaling pathway, as well as of the AKT1 signalingpathway. Plays a role in the regulation of vitamin D metabolism.Mutations that lead to constitutive kinase activation or impairnormal FGFR3 maturation, internalization and degradation lead toaberrant signaling. Over-expressed or constitutively activatedFGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A andSTAT5B. Secreted isoform 3 retains its capacity to bind FGF1 andFGF2 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}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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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FusionGeneSequence for BBS10_FGFR3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BBS10_FGFR3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BBS10_FGFR3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | FGFR3 | P22607 | DB00039 | Palifermin | Fibroblast growth factor receptor 3 | biotech | approved |
| Tgene | FGFR3 | P22607 | DB06589 | Pazopanib | Fibroblast growth factor receptor 3 | small molecule | approved |
| Tgene | FGFR3 | P22607 | DB09079 | Nintedanib | Fibroblast growth factor receptor 3 | small molecule | approved |
| Tgene | FGFR3 | P22607 | DB08901 | Ponatinib | Fibroblast growth factor receptor 3 | small molecule | approved|investigational |
| Tgene | FGFR3 | P22607 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 3 | small molecule | approved|investigational |
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RelatedDiseases for BBS10_FGFR3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BBS10 | C1859568 | BARDET-BIEDL SYNDROME 10 | 4 | UNIPROT |
| Tgene | FGFR3 | C0022603 | Seborrheic keratosis | 21 | UNIPROT |
| Tgene | FGFR3 | C0001080 | Achondroplasia | 8 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGFR3 | C0410529 | Hypochondroplasia (disorder) | 8 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGFR3 | C0334082 | NEVUS, EPIDERMAL (disorder) | 7 | CTD_human;UNIPROT |
| Tgene | FGFR3 | C0005695 | Bladder Neoplasm | 4 | CTD_human |
| Tgene | FGFR3 | C1864436 | Muenke Syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGFR3 | C0005684 | Malignant neoplasm of urinary bladder | 3 | UNIPROT |
| Tgene | FGFR3 | C2677099 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGFR3 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Tgene | FGFR3 | C0008924 | Cleft Lip | 1 | CTD_human |
| Tgene | FGFR3 | C0008925 | Cleft Palate | 1 | CTD_human |
| Tgene | FGFR3 | C0026764 | Multiple Myeloma | 1 | CTD_human |
| Tgene | FGFR3 | C0036631 | Seminoma | 1 | CTD_human |
| Tgene | FGFR3 | C0039743 | Thanatophoric Dysplasia | 1 | CTD_human |
| Tgene | FGFR3 | C0265269 | Lacrimoauriculodentodigital syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGFR3 | C1864852 | CATSHL syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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