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Fusion gene ID: 25237 |
FusionGeneSummary for NUP62_AP2A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NUP62_AP2A1 | Fusion gene ID: 25237 | Hgene | Tgene | Gene symbol | NUP62 | AP2A1 | Gene ID | 23636 | 160 |
| Gene name | nucleoporin 62 | adaptor related protein complex 2 subunit alpha 1 | |
| Synonyms | IBSN|SNDI|p62 | ADTAA|AP2-ALPHA|CLAPA1 | |
| Cytomap | 19q13.33 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear pore glycoprotein p6262 kDa nucleoporinnucleoporin 62kDnucleoporin 62kDanucleoporin Nup62 | AP-2 complex subunit alpha-1100 kDa coated vesicle protein Aadapter-related protein complex 2 alpha-1 subunitadapter-related protein complex 2 subunit alpha-1adaptin, alpha Aadaptor protein complex AP-2 subunit alpha-1adaptor related protein complex | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P37198 | O95782 | |
| Ensembl transtripts involved in fusion gene | ENST00000422090, ENST00000413454, ENST00000352066, ENST00000597029, ENST00000597723, ENST00000596217, ENST00000600583, | ENST00000354293, ENST00000600199, ENST00000359032, | |
| Fusion gene scores | * DoF score | 6 X 2 X 5=60 | 10 X 7 X 6=420 |
| # samples | 6 | 10 | |
| ** MAII score | log2(6/60*10)=0 | log2(10/420*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NUP62 [Title/Abstract] AND AP2A1 [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 | NUP62 | GO:0006351 | transcription, DNA-templated | 10373430 |
| Hgene | NUP62 | GO:0007166 | cell surface receptor signaling pathway | 10799545 |
| Hgene | NUP62 | GO:0008285 | negative regulation of cell proliferation | 11013214 |
| Hgene | NUP62 | GO:0043066 | negative regulation of apoptotic process | 11755531 |
| Hgene | NUP62 | GO:0043069 | negative regulation of programmed cell death | 11244088 |
| Hgene | NUP62 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 10356400 |
| Hgene | NUP62 | GO:0045893 | positive regulation of transcription, DNA-templated | 15625236 |
| Tgene | AP2A1 | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 24251095 |
| 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 | CESC | TCGA-MA-AA3Z-01A | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| * 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 | ENST00000422090 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| intron-intron | ENST00000422090 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| intron-intron | ENST00000422090 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| intron-3CDS | ENST00000413454 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| intron-intron | ENST00000413454 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| intron-intron | ENST00000413454 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-3CDS | ENST00000352066 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000352066 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000352066 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-3CDS | ENST00000597029 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000597029 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000597029 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-3CDS | ENST00000597723 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000597723 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000597723 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-3CDS | ENST00000596217 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000596217 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000596217 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-3CDS | ENST00000600583 | ENST00000354293 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000600583 | ENST00000600199 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
| 5UTR-intron | ENST00000600583 | ENST00000359032 | NUP62 | chr19 | 50430951 | - | AP2A1 | chr19 | 50304647 | + |
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FusionProtFeatures for NUP62_AP2A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NUP62 | AP2A1 |
| Essential component of the nuclear pore complex(PubMed:1915414). The N-terminal is probably involved innucleocytoplasmic transport (PubMed:1915414). The C-terminal isinvolved in protein-protein interaction probably via coiled-coilformation, promotes its association with centrosomes and mayfunction in anchorage of p62 to the pore complex (PubMed:1915414,PubMed:24107630). Plays a role in mitotic cell cycle progressionby regulating centrosome segregation, centriole maturation andspindle orientation (PubMed:24107630). It might be involved inprotein recruitment to the centrosome after nuclear breakdown(PubMed:24107630). {ECO:0000269|PubMed:1915414,ECO:0000269|PubMed:24107630}. | Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 alphasubunit binds polyphosphoinositide-containing lipids, positioningAP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocyticaccessory proteins. The AP-2 alpha and AP-2 sigma subunits arethought to contribute to the recognition of the [ED]-X-X-X-L-[LI]motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:14745134,ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387}. |
| 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 NUP62_AP2A1 |
| 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 NUP62_AP2A1 |
| 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 |
| NUP62 | NUP54, DTNB, XPO6, CCDC53, THAP1, GORASP2, IK, NUTF2, KPNA1, XPO1, KPNB1, NXF2, TRAF3, HSF2, G3BP1, G3BP2, RAE1, OGT, ATXN7, PCK1, CTNNB1, CUL3, CUL5, EIF4A3, MOGS, DTNA, FUBP3, HEATR5A, EEF2, NPM1, VCP, ARFGEF1, NCL, NXF1, MUC1, SP1, NUP93, CLIC1, GOPC, DGCR6, CEP250, BFSP1, FABP3, KIFC3, KPNA2, LMO2, PIN1, SMARCE1, ADAM15, NUPL1, ABI2, SNAPC5, OIP5, ISCU, BLOC1S6, PHF21A, KRT20, CCHCR1, CRCT1, CCDC146, CCDC121, CENPU, MYO15B, IFT20, KLHL32, HAUS1, IKBIP, C1orf216, AGR3, TXLNA, CCDC153, KANSL1, SSC5D, CCDC150, CEP57L1, OBSL1, RANBP2, NUP214, NUP153, NUP62, DDX19A, ACOX1, MCM3, NUP88, IFI16, NUP85, NUP35, HSPB11, HSPA5, NUP107, MCM2, RAN, CPNE2, PDHA1, IDH1 | AP2A1 | DPYSL2, NUMB, L1CAM, CD22, EHD1, NAGPA, EPS15, CLINT1, RAB11FIP2, ARRB2, BRCA1, SHBG, RALBP1, REPS2, EPN1, AMPH, SYNJ1, GRK5, ABL1, SHC1, CRK, AP2M1, MYO6, AP2A2, PICALM, FN1, VCAM1, DAB2, SMAD9, ITGA4, MMS19, ARRB1, RNF11, EGFR, GRB2, PPP6R3, PIN1, BIN1, RPA3, RPA2, RPA1, ABCB11, EPHA2, OBSL1, AAK1, SLC25A41, NECAP2, LRFN4, AAGAB, ZBTB46, SPC25, NTRK1, AP1B1, AP2S1, NUTF2, AP2B1, EIF2B1, MED4, MED23, CEP128, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PPP1CC, IQGAP1, PDLIM7, SEC16A, SYNPO, LIMA1, GTSE1, ANLN, MYO5C, MYO19, ARX, MYO18A, CFAP97, MCM2, MEX3C, FBXW7, DIEXF, ZNF746, ARFGAP1, SNX9, RUNDC3A, GPR156, GPBP1L1, FCHO1, INTS4, OCRL, SOST, STAMBP, REPS1, PPP6R2, LSR, C11orf57, GJB7, UBC, ARF6, TRIM25 |
| - 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 NUP62_AP2A1 |
| 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 NUP62_AP2A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NUP62 | C0795996 | STRIATONIGRAL DEGENERATION, INFANTILE (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
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