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Fusion gene ID: 19191 |
FusionGeneSummary for KPNA6_TRAIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KPNA6_TRAIP | Fusion gene ID: 19191 | Hgene | Tgene | Gene symbol | KPNA6 | TRAIP | Gene ID | 23633 | 10293 |
| Gene name | karyopherin subunit alpha 6 | TRAF interacting protein | |
| Synonyms | IPOA7|KPNA7 | RNF206|SCKL9|TRIP | |
| Cytomap | 1p35.2 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | importin subunit alpha-7importin alpha 7 subunitimportin-alpha-S2karyopherin alpha 6 (importin alpha 7) | E3 ubiquitin-protein ligase TRAIPRING-type E3 ubiquitin transferase TRAIPring finger protein 206 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O60684 | Q9BWF2 | |
| Ensembl transtripts involved in fusion gene | ENST00000373625, ENST00000537234, ENST00000469790, ENST00000545542, | ENST00000331456, ENST00000469027, ENST00000473863, | |
| Fusion gene scores | * DoF score | 8 X 4 X 7=224 | 4 X 4 X 5=80 |
| # samples | 11 | 5 | |
| ** MAII score | log2(11/224*10)=-1.02599520853294 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KPNA6 [Title/Abstract] AND TRAIP [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 | TRAIP | GO:0010804 | negative regulation of tumor necrosis factor-mediated signaling pathway | 19151749 |
| 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 | SARC | TCGA-HS-A5N9-01A | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| * 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 | ENST00000373625 | ENST00000331456 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| Frame-shift | ENST00000373625 | ENST00000469027 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| 5CDS-5UTR | ENST00000373625 | ENST00000473863 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000537234 | ENST00000331456 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000537234 | ENST00000469027 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-5UTR | ENST00000537234 | ENST00000473863 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000469790 | ENST00000331456 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000469790 | ENST00000469027 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-5UTR | ENST00000469790 | ENST00000473863 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000545542 | ENST00000331456 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-3CDS | ENST00000545542 | ENST00000469027 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
| intron-5UTR | ENST00000545542 | ENST00000473863 | KPNA6 | chr1 | 32573735 | + | TRAIP | chr3 | 49885633 | - |
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FusionProtFeatures for KPNA6_TRAIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KPNA6 | TRAIP |
| Functions in nuclear protein import as an adapterprotein for nuclear receptor KPNB1. Binds specifically anddirectly to substrates containing either a simple or bipartite NLSmotif. Docking of the importin/substrate complex to the nuclearpore complex (NPC) is mediated by KPNB1 through binding tonucleoporin FxFG repeats and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to importin-beta and the three components separate andimportin-alpha and -beta are re-exported from the nucleus to thecytoplasm where GTP hydrolysis releases Ran from importin. Thedirectionality of nuclear import is thought to be conferred by anasymmetric distribution of the GTP- and GDP-bound forms of Ranbetween the cytoplasm and nucleus. {ECO:0000269|PubMed:10523667}. | E3 ubiquitin ligase acting as a negative regulator ofinnate immune signaling. Inhibits activation of NF-kappa-Bmediated by TNF. Negatively regulates TLR3/4- and RIG-I-mediatedIRF3 activation and subsequent IFNB1 production and cellularantiviral response by promoting 'Lys-48'-linked polyubiquitinationof TNK1 leading to its proteasomal degradation (By similarity)(PubMed:22945920). Involved in response to genotoxic lesionsduring genome replication. Promotes H2AX and RPA2 phosphorylationafter replication-associated DNA damage and assists forkprogression at UV-induced replication-blocking lesions during Sphase (PubMed:26595769). Has also been proposed to play a role inpromoting translesion synthesis by mediating the assembly of 'Lys-63'-linked poly-ubiquitin chains on the Y-family polymerase POLNin order to facilitate bypass of DNA lesions and preserve genomicintegrity (PubMed:24553286). The function in translesion synthesisis controversial (PubMed:26595769). {ECO:0000250|UniProtKB:Q8VIG6,ECO:0000269|PubMed:22945920, ECO:0000269|PubMed:24553286,ECO:0000269|PubMed:26595769, ECO:0000303|PubMed:26595769}. |
| 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 KPNA6_TRAIP |
| 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 KPNA6_TRAIP |
| 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 |
| KPNA6 | SPOP, RELB, KPNB1, MEPCE, RAC1, CREBBP, KEAP1, CHD4, ELAVL1, SKP2, CUL3, TAF9, ANP32A, ZNF131, CDKN1B, HDAC1, KPNA2, GFPT1, KPNA3, LMNA, PRKAR2A, TTC1, XRN2, NOP2, NUP50, FRG1B, SURF2, UNK, EXOSC4, IPO5, FBL, HMGB1, NOP58, MORF4L1, MORF4L2, NOP56, PRMT1, PSMC2, RAN, RANBP6, RPL11, NTRK1, MUS81, PTTG1, CDK2AP1, NUP153, NCBP2, CHD8, GSG2, NAF1, CHMP4B, CENPU, FOXE1, MCM2, IKBKG, PHB2, METTL16, MDM2, PTPN2, RNMT, MEAF6, SREK1IP1, KBTBD4, CD2BP2, G3BP1, SMARCB1 | TRAIP | FLII, TRAF1, TRAF2, TNFRSF1B, TNFRSF8, UBE2U, TSG101, UBE2H, UBE2K, UBE2Z, CYLD, TRAIP, TRAF3, TRAF5, TRAF6, RAD21, TBK1, SYK, UBE2D1, UBE2D2, UBE2D3, APP, USP2, RNF4, TRIM23, RNF114, TRIM41, UBOX5, POLH, POLK, MAPRE2, PCNA, MAGEF1, MAP3K7, UIMC1, RNF20, RNF40 |
| - 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 KPNA6_TRAIP |
| 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 KPNA6_TRAIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TRAIP | C0013336 | Dwarfism | 1 | CTD_human |
| Tgene | TRAIP | C0025958 | Microcephaly | 1 | CTD_human |
| Tgene | TRAIP | C4225212 | SECKEL SYNDROME 9 | 1 | UNIPROT |
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