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Fusion gene ID: 37710 |
FusionGeneSummary for TEKT4P2_RBPJ |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TEKT4P2_RBPJ | Fusion gene ID: 37710 | Hgene | Tgene | Gene symbol | TEKT4P2 | RBPJ | Gene ID | 100132288 | 3516 |
| Gene name | tektin 4 pseudogene 2 | recombination signal binding protein for immunoglobulin kappa J region | |
| Synonyms | MAFIPL|TEKT4P | AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl | |
| Cytomap | 21p11.2 | 4p15.2 | |
| Type of gene | pseudo | protein-coding | |
| Description | Tektin-4 like protein LOC389833 | 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 | 20180519 | 20180525 | |
| UniProtAcc | Q06330 | ||
| Ensembl transtripts involved in fusion gene | ENST00000416067, | ENST00000345843, ENST00000342295, ENST00000361572, ENST00000348160, ENST00000355476, ENST00000511401, ENST00000507561, ENST00000504907, ENST00000342320, | |
| Fusion gene scores | * DoF score | 5 X 1 X 5=25 | 7 X 7 X 4=196 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: TEKT4P2 [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) |
| 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 | 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 |
| 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 | DC301955 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| * 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 |
| 5UTR-intron | ENST00000416067 | ENST00000345843 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-intron | ENST00000416067 | ENST00000342295 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-intron | ENST00000416067 | ENST00000361572 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-intron | ENST00000416067 | ENST00000348160 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-5UTR | ENST00000416067 | ENST00000355476 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-3UTR | ENST00000416067 | ENST00000511401 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-intron | ENST00000416067 | ENST00000507561 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-5UTR | ENST00000416067 | ENST00000504907 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
| 5UTR-5UTR | ENST00000416067 | ENST00000342320 | TEKT4P2 | chr21 | 9966322 | - | RBPJ | chr4 | 26364067 | + |
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FusionProtFeatures for TEKT4P2_RBPJ |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TEKT4P2 | RBPJ |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | 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}. |
| 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 TEKT4P2_RBPJ |
| 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 TEKT4P2_RBPJ |
| 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 |
| TEKT4P2 | ARAF | RBPJ | NOTCH1, SNW1, SIN3A, SND1, CIR1, KAT2B, KAT2A, NCOR2, NOTCH2, SPEN, MECP2, KDM5A, GSK3B, RPS6KA6, GADD45A, RUNX3, RUNX1T1, KAT5, ELAVL1, BCL6B, APP, KDM1A, PHF8, SMARCA4, MAML1, FHL1, CAMK4, MYC, MED27, NOTCH3, PTF1A, WDR70, USP7, FBXO42, ZNF589, DCAF16, ZNF268, HSPB1, MAML3, MAML2, MED23, XPO1, CLPTM1, RNF20, LCOR, L3MBTL3, SAMD1, RECQL, FNBP1, HMG20B, NKX6-1, TPX2, PHF21A, SMARCA5, JMJD1C, SFMBT1, RCC1, SMARCA1, HOXA10, HOXB9, PSIP1, CUX1, DLX5, FNBP1L, H2AFY, HDAC2, KDM2A, NKX2-5, SATB2, TPM1, ZBTB10, ALX4, CHAF1B, CHD4, DEK, GTF3C5, HOXC13, HOXD13, KIF2C, MAP7D3, NFIA, SATB1, TBP, TFAP4, TXNDC5, ADNP, ARID3B, RITA1, CAMSAP1, CDC27, CGGBP1, CREM, GATAD2A, GTF3C4, MBD1, MBD2, MYH7, NACC1, NFATC1, NFIC, NFIX, NR2F2, OGT, PATZ1, PBX1, PITX2, RANGAP1, TPM2, ZNF143, SEPSECS, DDX24, POP1, USP47, CFDP1, RPA2, ADAR, CUL1, SART3, RND3, ZMIZ1, NSMF, CAMK2D, FANCG, FANCA, TP53 |
| - 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 TEKT4P2_RBPJ |
| 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 TEKT4P2_RBPJ |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RBPJ | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Tgene | RBPJ | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | RBPJ | C3553748 | ADAMS-OLIVER SYNDROME 3 | 1 | UNIPROT |
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