![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 30831 |
FusionGeneSummary for RBPJ_RBPJ |
![]() |
Fusion gene information | Fusion gene name: RBPJ_RBPJ | Fusion gene ID: 30831 | Hgene | Tgene | Gene symbol | RBPJ | RBPJ | Gene ID | 3516 | 3516 |
Gene name | recombination signal binding protein for immunoglobulin kappa J region | recombination signal binding protein for immunoglobulin kappa J region | |
Synonyms | AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl | AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl | |
Cytomap | 4p15.2 | 4p15.2 | |
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 | 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 | |
Modification date | 20180525 | 20180525 | |
UniProtAcc | Q06330 | Q06330 | |
Ensembl transtripts involved in fusion gene | ENST00000345843, ENST00000342295, ENST00000361572, ENST00000348160, ENST00000355476, ENST00000511401, ENST00000507561, ENST00000504907, ENST00000342320, | ENST00000345843, ENST00000342295, ENST00000361572, ENST00000348160, ENST00000355476, ENST00000511401, ENST00000507561, ENST00000504907, ENST00000342320, | |
Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 7 X 7 X 4=196 |
# samples | 7 | 7 | |
** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RBPJ [Title/Abstract] AND RBPJ [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) |
![]() |
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 | RBPJ | GO:0007221 | positive regulation of transcription of Notch receptor target | 21102556 |
Tgene | RBPJ | GO:0045892 | negative regulation of transcription, DNA-templated | 10713164 |
Tgene | RBPJ | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 23303788 |
![]() (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 | BM994447 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000345843 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000345843 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000345843 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000345843 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000345843 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000345843 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000345843 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000345843 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000345843 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000342295 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342295 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342295 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000342295 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342295 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342295 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342295 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342295 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342295 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000361572 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000361572 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000361572 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000361572 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000361572 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000361572 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000361572 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000361572 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000361572 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000348160 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000348160 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000348160 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000348160 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000348160 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000348160 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000348160 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000348160 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000348160 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000355476 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000355476 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000355476 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000355476 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000355476 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000355476 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000355476 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000355476 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000355476 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-3CDS | ENST00000511401 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-3CDS | ENST00000511401 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-3CDS | ENST00000511401 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-3CDS | ENST00000511401 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-3CDS | ENST00000511401 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-intron | ENST00000511401 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-intron | ENST00000511401 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-intron | ENST00000511401 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
intron-intron | ENST00000511401 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000507561 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000507561 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000507561 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000507561 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000507561 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000507561 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000507561 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000507561 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000507561 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-3CDS | ENST00000504907 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-3CDS | ENST00000504907 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-3CDS | ENST00000504907 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-3CDS | ENST00000504907 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-3CDS | ENST00000504907 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-intron | ENST00000504907 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-intron | ENST00000504907 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-intron | ENST00000504907 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
3UTR-intron | ENST00000504907 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342320 | ENST00000345843 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342320 | ENST00000342295 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
In-frame | ENST00000342320 | ENST00000361572 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342320 | ENST00000348160 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Frame-shift | ENST00000342320 | ENST00000355476 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342320 | ENST00000511401 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342320 | ENST00000507561 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342320 | ENST00000504907 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
5CDS-intron | ENST00000342320 | ENST00000342320 | RBPJ | chr4 | 26432443 | - | RBPJ | chr4 | 26432364 | + |
Top |
FusionProtFeatures for RBPJ_RBPJ |
![]() |
Hgene | Tgene |
RBPJ | RBPJ |
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}. | 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}. |
![]() * 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 |
FusionGeneSequence for RBPJ_RBPJ |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for RBPJ_RBPJ |
![]() |
![]() |
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 |
RelatedDrugs for RBPJ_RBPJ |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RBPJ_RBPJ |
![]() (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 | RBPJ | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
Tgene | RBPJ | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | RBPJ | C3553748 | ADAMS-OLIVER SYNDROME 3 | 1 | UNIPROT |