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Fusion gene ID: 37503 |
FusionGeneSummary for TBR1_PSMD14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBR1_PSMD14 | Fusion gene ID: 37503 | Hgene | Tgene | Gene symbol | TBR1 | PSMD14 | Gene ID | 10716 | 10213 |
| Gene name | T-box, brain 1 | proteasome 26S subunit, non-ATPase 14 | |
| Synonyms | TBR-1|TES-56 | PAD1|POH1|RPN11 | |
| Cytomap | 2q24.2 | 2q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | T-box brain protein 1T-brain-1 | 26S proteasome non-ATPase regulatory subunit 1426S proteasome regulatory subunit rpn1126S proteasome-associated PAD1 homolog 1proteasome (prosome, macropain) 26S subunit, non-ATPase, 14testis tissue sperm-binding protein Li 69n | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q16650 | O00487 | |
| Ensembl transtripts involved in fusion gene | ENST00000389554, ENST00000410035, ENST00000489530, | ENST00000409682, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 3=48 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TBR1 [Title/Abstract] AND PSMD14 [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 |
| 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 | LD | BRCA | TCGA-D8-A27R-01A | TBR1 | chr2 | 162276768 | + | PSMD14 | chr2 | 162251589 | + |
| * 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 |
| Frame-shift | ENST00000389554 | ENST00000409682 | TBR1 | chr2 | 162276768 | + | PSMD14 | chr2 | 162251589 | + |
| Frame-shift | ENST00000410035 | ENST00000409682 | TBR1 | chr2 | 162276768 | + | PSMD14 | chr2 | 162251589 | + |
| 3UTR-3CDS | ENST00000489530 | ENST00000409682 | TBR1 | chr2 | 162276768 | + | PSMD14 | chr2 | 162251589 | + |
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FusionProtFeatures for TBR1_PSMD14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBR1 | PSMD14 |
| Probable transcriptional regulator involved indevelopmental processes. Required for normal brain development. | Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair. The PSMD14 subunitis a metalloprotease that specifically cleaves 'Lys-63'-linkedpolyubiquitin chains within the complex. Plays a role in responseto double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving 'Lys-63'-linkedpolyubiquitin, thereby promoting retention of JMJD2A/KDM4A onchromatin and restricting TP53BP1 accumulation. Also involved inhomologous recombination repair by promoting RAD51 loading.{ECO:0000269|PubMed:1317798, ECO:0000269|PubMed:22909820,ECO:0000269|PubMed:9374539}. |
| 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 TBR1_PSMD14 |
| 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 TBR1_PSMD14 |
| 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 |
| TBR1 | CASK, TSPYL2, RMND5B | PSMD14 | PAAF1, PSMD13, PSMD6, PSMD10, PSMA3, PSMC6, PSMD4, PSMC1, PSMC2, PSMD1, PSMD3, PSMD7, PSMD11, PSMD12, SUCLA2, UCHL5, USP14, C19orf60, PSMA1, UBC, INSIG2, SHFM1, MITF, PCK1, PSMA6, TXNL1, RAD23A, FKBP8, PSMA2, GRB2, PSMD8, PSMC3, PSMD2, PSMC5, PSMC4, PSMB1, PSMA7, PSMB6, PSMB2, PSMA5, PSMB4, PSMB3, PSMB7, PSMA4, PSMA8, NUDCD2, STUB1, NOS2, PARK2, RNF11, OLIG1, ADRM1, AHNAK2, KIAA0368, PSME1, PSMB5, PSME3, PSME2, PSME4, UBE3C, UBE3A, RAD23B, UBQLN1, HUWE1, MEOX2, DPY30, FAM9B, UBA1, HERC2, UBR4, AMFR, ABCE1, CCDC74B, CCDC92, PSMB9, COPS6, MCFD2, MTCH1, NLRP9, PRPF8, PSMB8, APOB, PDIA5, PSMD5, PSMD9, SPDL1, TXN, NTRK1, OFD1, CNTRL, NPHP1, DCTN1, POC5, TMEM67, CHD3, IPP, PTPN2, NCOA4, EDEM1, BAIAP2L1, YIPF5, SPATA5, E2F1, MID1, SGTA, BAG6, UBLCP1, HSD17B10, SOD1, BRCA1, MCM9 |
| - 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 TBR1_PSMD14 |
| 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 TBR1_PSMD14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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