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Fusion gene ID: 30829 |
FusionGeneSummary for RBPJ_GLB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBPJ_GLB1 | Fusion gene ID: 30829 | Hgene | Tgene | Gene symbol | RBPJ | GLB1 | Gene ID | 3516 | 2720 |
| Gene name | recombination signal binding protein for immunoglobulin kappa J region | galactosidase beta 1 | |
| Synonyms | AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl | EBP|ELNR1|MPS4B | |
| Cytomap | 4p15.2 | 3p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | recombining binding protein suppressor of hairlessCBF-1H-2K binding factor-2RBP-J kappaRBP-JKimmunoglobulin kappa J region recombination signal binding protein 1renal carcinoma antigen NY-REN-30suppressor of hairless homolog | beta-galactosidaseacid beta-galactosidaseelastin receptor 1, 67kDalactase | |
| Modification date | 20180525 | 20180523 | |
| UniProtAcc | Q06330 | P16278 | |
| Ensembl transtripts involved in fusion gene | ENST00000345843, ENST00000342295, ENST00000361572, ENST00000348160, ENST00000355476, ENST00000511401, ENST00000507561, ENST00000504907, ENST00000342320, | ENST00000307363, ENST00000399402, ENST00000445488, ENST00000307377, ENST00000497796, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 6 X 6 X 4=144 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBPJ [Title/Abstract] AND GLB1 [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 |
| Hgene | RBPJ | GO:0007221 | positive regulation of transcription of Notch receptor target | 21102556 |
| Hgene | RBPJ | GO:0045892 | negative regulation of transcription, DNA-templated | 10713164 |
| Hgene | RBPJ | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 23303788 |
| Tgene | GLB1 | GO:0044262 | cellular carbohydrate metabolic process | 11927518 |
| 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 | AU125113 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| * 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-5UTR | ENST00000345843 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000345843 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000345843 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000345843 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000345843 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000342295 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000342295 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000342295 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000342295 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000342295 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000361572 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000361572 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000361572 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000361572 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000361572 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000348160 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000348160 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000348160 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000348160 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000348160 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000355476 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000355476 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000355476 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000355476 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000355476 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000511401 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000511401 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000511401 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000511401 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000511401 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000507561 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000507561 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000507561 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000507561 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000507561 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000504907 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000504907 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000504907 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-5UTR | ENST00000504907 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| intron-intron | ENST00000504907 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| 3UTR-5UTR | ENST00000342320 | ENST00000307363 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| 3UTR-intron | ENST00000342320 | ENST00000399402 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| 3UTR-5UTR | ENST00000342320 | ENST00000445488 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| 3UTR-5UTR | ENST00000342320 | ENST00000307377 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
| 3UTR-intron | ENST00000342320 | ENST00000497796 | RBPJ | chr4 | 26435359 | + | GLB1 | chr3 | 33138610 | - |
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FusionProtFeatures for RBPJ_GLB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBPJ | GLB1 |
| Transcriptional regulator that plays a central role inNotch signaling, a signaling pathway involved in cell-cellcommunication that regulates a broad spectrum of cell-fatedeterminations. Acts as a transcriptional repressor when it is notassociated with Notch proteins. When associated with some NICDproduct of Notch proteins (Notch intracellular domain), it acts asa transcriptional activator that activates transcription of Notchtarget genes. Probably represses or activates transcription viathe recruitment of chromatin remodeling complexes containinghistone deacetylase or histone acetylase proteins, respectively.Specifically binds to the immunoglobulin kappa-type J segmentrecombination signal sequence. Binds specifically to methylatedDNA (PubMed:21991380). Binds to the oxygen responsive element ofCOX4I2 and activates its transcription under hypoxia conditions(4% oxygen) (PubMed:23303788). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by repressingtranscription of NADPH oxidase subunits (By similarity).{ECO:0000250|UniProtKB:P31266, ECO:0000269|PubMed:21991380,ECO:0000269|PubMed:23303788}. | Isoform 1: Cleaves beta-linked terminal galactosylresidues from gangliosides, glycoproteins, and glycosaminoglycans.{ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408,ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995,ECO:0000269|PubMed:8200356}. Isoform 2: Has no beta-galactosidase catalytic activity,but plays functional roles in the formation of extracellularelastic fibers (elastogenesis) and in the development ofconnective tissue. Seems to be identical to the elastin-bindingprotein (EBP), a major component of the non-integrin cell surfacereceptor expressed on fibroblasts, smooth muscle cells,chondroblasts, leukocytes, and certain cancer cell types. Inelastin producing cells, associates with tropoelastinintracellularly and functions as a recycling molecular chaperonewhich facilitates the secretions of tropoelastin and its assemblyinto elastic fibers. {ECO:0000269|PubMed:10841810,ECO:0000269|PubMed:8922281}. |
| 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 RBPJ_GLB1 |
| 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 RBPJ_GLB1 |
| 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 RBPJ_GLB1 |
| 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 |
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RelatedDiseases for RBPJ_GLB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RBPJ | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Hgene | RBPJ | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | RBPJ | C3553748 | ADAMS-OLIVER SYNDROME 3 | 1 | UNIPROT |
| Tgene | GLB1 | C0268271 | Gangliosidosis, Generalized GM1, Type 1 (disorder) | 23 | ORPHANET;UNIPROT |
| Tgene | GLB1 | C0268272 | Gangliosidosis, Generalized GM1, Type 2 | 14 | ORPHANET;UNIPROT |
| Tgene | GLB1 | C0086652 | Mucopolysaccharidosis type IVB | 13 | ORPHANET;UNIPROT |
| Tgene | GLB1 | C0268273 | Gangliosidosis, Generalized GM1, Type 3 | 13 | ORPHANET;UNIPROT |
| Tgene | GLB1 | C0026707 | Mucopolysaccharidosis IV | 2 | CTD_human |
| Tgene | GLB1 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Tgene | GLB1 | C0010038 | Corneal Opacity | 1 | CTD_human |
| Tgene | GLB1 | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
| Tgene | GLB1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | GLB1 | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
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