|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 39611 |
FusionGeneSummary for TRIP12_MAFF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TRIP12_MAFF | Fusion gene ID: 39611 | Hgene | Tgene | Gene symbol | TRIP12 | MAFF | Gene ID | 9320 | 23764 |
| Gene name | thyroid hormone receptor interactor 12 | MAF bZIP transcription factor F | |
| Synonyms | MRD49|TRIP-12|ULF | U-MAF|hMafF | |
| Cytomap | 2q36.3 | 22q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase TRIP12E3 ubiquitin-protein ligase for ArfHECT-type E3 ubiquitin transferase TRIP12TR-interacting protein 12probable E3 ubiquitin-protein ligase TRIP12thyroid receptor interacting protein 12 | transcription factor MafFv-maf avian musculoaponeurotic fibrosarcoma oncogene family protein Fv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q14669 | Q9ULX9 | |
| Ensembl transtripts involved in fusion gene | ENST00000283943, ENST00000389045, ENST00000389044, ENST00000543084, ENST00000409677, | ENST00000338483, ENST00000538999, ENST00000538320, ENST00000426621, ENST00000407965, | |
| Fusion gene scores | * DoF score | 13 X 11 X 13=1859 | 5 X 3 X 4=60 |
| # samples | 20 | 5 | |
| ** MAII score | log2(20/1859*10)=-3.21645486514476 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TRIP12 [Title/Abstract] AND MAFF [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 | TRIP12 | GO:0006511 | ubiquitin-dependent protein catabolic process | 18627766|20208519 |
| Tgene | MAFF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12490281 |
| 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 |
| TCGA | RV | SKCM | TCGA-D3-A2JC-06A | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| * 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-5UTR | ENST00000283943 | ENST00000338483 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-intron | ENST00000283943 | ENST00000538999 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000283943 | ENST00000538320 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000283943 | ENST00000426621 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000283943 | ENST00000407965 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389045 | ENST00000338483 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-intron | ENST00000389045 | ENST00000538999 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389045 | ENST00000538320 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389045 | ENST00000426621 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389045 | ENST00000407965 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389044 | ENST00000338483 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-intron | ENST00000389044 | ENST00000538999 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389044 | ENST00000538320 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389044 | ENST00000426621 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000389044 | ENST00000407965 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000543084 | ENST00000338483 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-intron | ENST00000543084 | ENST00000538999 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000543084 | ENST00000538320 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000543084 | ENST00000426621 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000543084 | ENST00000407965 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000409677 | ENST00000338483 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-intron | ENST00000409677 | ENST00000538999 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000409677 | ENST00000538320 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000409677 | ENST00000426621 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
| 5UTR-5UTR | ENST00000409677 | ENST00000407965 | TRIP12 | chr2 | 230786596 | - | MAFF | chr22 | 38609830 | + |
Top |
FusionProtFeatures for TRIP12_MAFF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TRIP12 | MAFF |
| E3 ubiquitin-protein ligase involved in ubiquitin fusiondegradation (UFD) pathway and regulation of DNA repair. Part ofthe ubiquitin fusion degradation (UFD) pathway, a process thatmediates ubiquitination of protein at their N-terminus,regardeless of the presence of lysine residues in target proteins.In normal cells, mediates ubiquitination and degradation ofisoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressorrequired for p53/TP53 activation under oncogenic stress. In cancercells, however, isoform p19ARF/ARF and TRIP12 are located indifferent cell compartments, preventing isoform p19ARF/ARFubiquitination and degradation. Does not mediate ubiquitination ofisoform p16-INK4a of CDKN2A. Also catalyzes ubiquitination of NAE1and SMARCE1, leading to their degradation. Ubiquitination anddegradation of target proteins is regulated by interaction withproteins such as MYC, TRADD or SMARCC1, which disrupt theinteraction between TRIP12 and target proteins. Acts as a keyregulator of DNA damage response by acting as a suppressor ofRNF168, an E3 ubiquitin-protein ligase that promotes accumulationof 'Lys-63'-linked histone H2A and H2AX at DNA damage sites,thereby acting as a guard against excessive spreading ofubiquitinated chromatin at damaged chromosomes.{ECO:0000269|PubMed:18627766, ECO:0000269|PubMed:19028681,ECO:0000269|PubMed:20208519, ECO:0000269|PubMed:20829358,ECO:0000269|PubMed:22884692}. | Since they lack a putative transactivation domain, thesmall Mafs behave as transcriptional repressors when they dimerizeamong themselves (PubMed:8932385). However, they seem to serve astranscriptional activators by dimerizing with other (usuallylarger) basic-zipper proteins, such as NFE2L1/NRF1, and recruitingthem to specific DNA-binding sites. Interacts with the upstreampromoter region of the oxytocin receptor gene (PubMed:8932385,PubMed:16549056). May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition(PubMed:10527846). {ECO:0000269|PubMed:10527846,ECO:0000269|PubMed:16549056, ECO:0000269|PubMed:8932385}. |
| 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 |
Top |
FusionGeneSequence for TRIP12_MAFF |
| 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). |
Top |
FusionGenePPI for TRIP12_MAFF |
| 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 |
| TRIP12 | NAE1, USP11, USP7, MEPCE, CDK9, SMARCE1, CDKN2A, MYC, CLSTN1, CARNS1, SIRT7, TRADD, NMI, UBE2D1, UBE2L3, ALYREF, ESR1, VCP, RNF168, SMAD9, CFTR, SOX6, RPA3, RPA2, RPA1, GNL3, UBC, UBE4B, PTF1A, OBSL1, CCDC8, EED, BCAT1, EIF3I, RP2, IFI16, HIST1H2BG, SRPK2, CEP19, EXOSC9, VHL, PHF8, FAM46A, TEAD2, SNW1, CAPN1, KBTBD7, MECP2, OPCML, MTNR1A, MTNR1B, ERG | MAFF | PSAP, NFE2L2, NRF1, MAFF, NFE2L1, HOXD12, NR3C1, PPARG, HDAC5, GTF2A1L, BACH2, BACH1, NFE2L3, MAFG, BATF3, BATF2, ATF3, FOS, NFIL3, DDIT3, MAFIP, OVOL1, PARP1, CCDC67, SUPT16H, CCDC6, LDOC1L, GAPDHS, CALCOCO1, NEK9, MIS12, GIT1, GIT2 |
| - 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 |
Top |
RelatedDrugs for TRIP12_MAFF |
| 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 |
Top |
RelatedDiseases for TRIP12_MAFF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MAFF | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|