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Fusion gene ID: 9258 |
FusionGeneSummary for DAG1_KPNA6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DAG1_KPNA6 | Fusion gene ID: 9258 | Hgene | Tgene | Gene symbol | DAG1 | KPNA6 | Gene ID | 1605 | 23633 |
| Gene name | dystroglycan 1 | karyopherin subunit alpha 6 | |
| Synonyms | 156DAG|A3a|AGRNR|DAG|MDDGA9|MDDGC7|MDDGC9 | IPOA7|KPNA7 | |
| Cytomap | 3p21.31 | 1p35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dystroglycandystroglycan 1 (dystrophin-associated glycoprotein 1) | importin subunit alpha-7importin alpha 7 subunitimportin-alpha-S2karyopherin alpha 6 (importin alpha 7) | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14118 | O60684 | |
| Ensembl transtripts involved in fusion gene | ENST00000515359, ENST00000308775, ENST00000541308, ENST00000539901, ENST00000545947, ENST00000538711, ENST00000479935, | ENST00000373625, ENST00000537234, ENST00000469790, ENST00000545542, | |
| Fusion gene scores | * DoF score | 9 X 9 X 6=486 | 5 X 5 X 3=75 |
| # samples | 13 | 6 | |
| ** MAII score | log2(13/486*10)=-1.90244469057733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DAG1 [Title/Abstract] AND KPNA6 [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 | DAG1 | GO:0006509 | membrane protein ectodomain proteolysis | 19946898 |
| Hgene | DAG1 | GO:0019048 | modulation by virus of host morphology or physiology | 16254364 |
| 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 | SARC | TCGA-HS-A5N9-01A | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| * 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 |
| intron-3CDS | ENST00000515359 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-5UTR | ENST00000515359 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-3UTR | ENST00000515359 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-3UTR | ENST00000515359 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3CDS | ENST00000308775 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-5UTR | ENST00000308775 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000308775 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000308775 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3CDS | ENST00000541308 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-5UTR | ENST00000541308 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000541308 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000541308 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3CDS | ENST00000539901 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-5UTR | ENST00000539901 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000539901 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000539901 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3CDS | ENST00000545947 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-5UTR | ENST00000545947 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000545947 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000545947 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3CDS | ENST00000538711 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-5UTR | ENST00000538711 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000538711 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| 5UTR-3UTR | ENST00000538711 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-3CDS | ENST00000479935 | ENST00000373625 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-5UTR | ENST00000479935 | ENST00000537234 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-3UTR | ENST00000479935 | ENST00000469790 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
| intron-3UTR | ENST00000479935 | ENST00000545542 | DAG1 | chr3 | 49507866 | + | KPNA6 | chr1 | 32620189 | + |
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FusionProtFeatures for DAG1_KPNA6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DAG1 | KPNA6 |
| The dystroglycan complex is involved in a number ofprocesses including laminin and basement membrane assembly,sarcolemmal stability, cell survival, peripheral nervemyelination, nodal structure, cell migration, and epithelialpolarization. Alpha-dystroglycan is an extracellular peripheralglycoprotein that acts as a receptor for both extracellular matrixproteins containing laminin-G domains. Receptor for laminin-2(LAMA2) and agrin in peripheral nerve Schwann cells. Beta-dystroglycan is a transmembrane protein that playsimportant roles in connecting the extracellular matrix to thecytoskeleton. Acts as a cell adhesion receptor in both muscle andnon-muscle tissues. Receptor for both DMD and UTRN and, throughthese interactions, scaffolds axin to the cytoskeleton. Alsofunctions in cell adhesion-mediated signaling and implicated incell polarity. (Microbial infection) Alpha-dystroglycan acts as areceptor for lassa virus and lymphocytic choriomeningitis virusglycoprotein and class C new-world arenaviruses (PubMed:16254364,PubMed:19324387, PubMed:17360738). Alpha-dystroglycan acts as aSchwann cell receptor for Mycobacterium leprae, the causativeorganism of leprosy, but only in the presence of the G-domain ofLAMA2 (PubMed:9851927). {ECO:0000269|PubMed:16254364,ECO:0000269|PubMed:17360738, ECO:0000269|PubMed:19324387,ECO:0000269|PubMed:9851927}. | 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}. |
| 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 DAG1_KPNA6 |
| 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 DAG1_KPNA6 |
| 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 |
| DAG1 | GRB2, RAPSN, DMD, CAV3, DRP2, PRX, SRC, FYN, CSK, NCK1, SHC1, CAV1, AGRN, UTRN, LAMA2, LAMA5, TUBA1A, ACTN1, MAP2, ITGB1, TLN1, VCL, PTK2, AGR2, AGR3, ELAVL1, SH3KBP1, CORO7, HLA-DPA1, CEACAM21, LGALS8, LGALS9, GINM1, LGALS9C, TNF, HTR3C, CLIC4, DNAJB1, PPP1CB, VPS45, KRAS, CDH1, PCDHGA5, PCDHGB4, TCTN2, PCDHB11, PCDHAC2, FKBP9, CDH5, TNFSF8, IL13RA2, TRIM25, WWC1 | 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 |
| - 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 DAG1_KPNA6 |
| 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 DAG1_KPNA6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DAG1 | C3151184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 | 2 | ORPHANET;UNIPROT |
| Hgene | DAG1 | C0023092 | Lassa Fever | 1 | CTD_human |
| Hgene | DAG1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | DAG1 | C4225291 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | 1 | ORPHANET;UNIPROT |
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