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Fusion gene ID: 37019 |
FusionGeneSummary for TAB1_SMG9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TAB1_SMG9 | Fusion gene ID: 37019 | Hgene | Tgene | Gene symbol | TAB1 | SMG9 | Gene ID | 10454 | 56006 |
| Gene name | TGF-beta activated kinase 1 (MAP3K7) binding protein 1 | SMG9, nonsense mediated mRNA decay factor | |
| Synonyms | 3'-Tab1|MAP3K7IP1 | C19orf61|F17127_1|HBMS | |
| Cytomap | 22q13.1 | 19q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TGF-beta-activated kinase 1 and MAP3K7-binding protein 1TAK1-binding protein 1mitogen-activated protein kinase kinase kinase 7-interacting protein 1transforming growth factor beta-activated kinase-binding protein 1 | protein SMG9protein smg-9 homolog | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q15750 | Q9H0W8 | |
| Ensembl transtripts involved in fusion gene | ENST00000216160, ENST00000331454, ENST00000488859, | ENST00000270066, ENST00000601170, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 2 X 3=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TAB1 [Title/Abstract] AND SMG9 [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 | OV | TCGA-13-1405-01A | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| * 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 |
| 5CDS-5UTR | ENST00000216160 | ENST00000270066 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| 5CDS-5UTR | ENST00000216160 | ENST00000601170 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| 5CDS-5UTR | ENST00000331454 | ENST00000270066 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| 5CDS-5UTR | ENST00000331454 | ENST00000601170 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| intron-5UTR | ENST00000488859 | ENST00000270066 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
| intron-5UTR | ENST00000488859 | ENST00000601170 | TAB1 | chr22 | 39817976 | + | SMG9 | chr19 | 44254899 | - |
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FusionProtFeatures for TAB1_SMG9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TAB1 | SMG9 |
| May be an important signaling intermediate between TGFBreceptors and MAP3K7/TAK1. May play an important role in mammalianembryogenesis. | Involved in nonsense-mediated decay (NMD) of mRNAscontaining premature stop codons (PubMed:19417104). Is recruitedby release factors to stalled ribosomes together with SMG1 andSMG8 (forming the SMG1C protein kinase complex) and, in the SMG1Ccomplex, is required for the efficient association between SMG1and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eyedevelopment (By similarity). {ECO:0000250|UniProtKB:Q9DB90,ECO:0000269|PubMed:19417104}. |
| 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 TAB1_SMG9 |
| 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 TAB1_SMG9 |
| 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 |
| TAB1 | TAB2, TRAF2, MAP3K7, TAB3, SMAD7, XIAP, SMAD6, MAPK14, ZMYND11, TRAF6, TNF, AGO3, RIPK2, MORF4L1, MORF4L2, MTG2, PHACTR3, C9orf78, CARD11, PDCD6IP, CASP6, PPP1R7, GIT1, XPO7, NXPH3, URB1, PHC2, POLR3D, RPL10, ACAP3, SERPINA4, CKB, CFL1, DBN1, MICAL1, KIFC2, MON1A, LAP3, ASRGL1, RBX1, MAPKAPK5, POLDIP2, FADD, LCMT1, PTPMT1, EPRS, C2orf44, HNRNPR, ARAP1, RPLP1, SNRNP35, TSSC4, TRPC4AP, PRKAR1A, ARRB2, NR2C2, OGT, GRK5, EGFR, IKBKB, NOTCH1, BST2, HSP90AA1, MAPK12, MAPK8IP1, GRB2, BIRC3, NPM1, TRIP6, CDK5RAP3, WTAP, PPP2CB, PPP2R1A, FN1, CORO1A, SLMAP, MDM2, TIRAP, BAG2, MAGED1, NAIP, BIRC7, SHMT2, MOV10, NXF1, IKBKG, MAP3K1, C11orf70, MAMDC2, RFPL4B, CARD8, PRMT2, C9orf41, TMEM52B, SSX2IP, CNTROB, XPO1, HSPA1L, MAPK11, ITCH, ALKBH3, MCM2, USP18, F2R, SMURF1, MTMR8, EMILIN1, SYNC, AARSD1, SERPINB2, SCRN1, CCDC102B, MANSC1, PCDH20, TBL1Y, HSPA8, CYB5A, GANAB, HSPBP1, TH, PCDHGB4, PSMC3, KLHL10, CCL22, C6orf141, CRYBB3, UBC, AATK, ERBB4, ROR2, CYLD, PARK7, SOD1 | SMG9 | SMG1, SMG8, UPF1, RBM8A, RUVBL1, TRIM23, KRT31, TRAF2, CNTROB, STIL, DDX11, PRPSAP1, VPRBP, EPHA1 |
| - 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 TAB1_SMG9 |
| 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 TAB1_SMG9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TAB1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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