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Fusion gene ID: 42196 |
FusionGeneSummary for XPO7_NBN |
Fusion gene summary |
Fusion gene information | Fusion gene name: XPO7_NBN | Fusion gene ID: 42196 | Hgene | Tgene | Gene symbol | XPO7 | NBN | Gene ID | 23039 | 9048 |
Gene name | exportin 7 | artemin | |
Synonyms | EXP7|RANBP16 | ART|ENOVIN|EVN|NBN | |
Cytomap | 8p21.3 | 1p34.1 | |
Type of gene | protein-coding | protein-coding | |
Description | exportin-7RAN binding protein 16 | arteminneublastin | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9UIA9 | O60934 | |
Ensembl transtripts involved in fusion gene | ENST00000434536, ENST00000252512, ENST00000518017, ENST00000433566, | ENST00000265433, ENST00000409330, | |
Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 1 X 1 X 1=1 |
# samples | 7 | 1 | |
** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: XPO7 [Title/Abstract] AND NBN [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. |
* 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 | XPO7 | GO:0006611 | protein export from nucleus | 11024021 |
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-57-1585-01A | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
* 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 | ENST00000434536 | ENST00000265433 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
Frame-shift | ENST00000434536 | ENST00000409330 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
Frame-shift | ENST00000252512 | ENST00000265433 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
Frame-shift | ENST00000252512 | ENST00000409330 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
intron-3CDS | ENST00000518017 | ENST00000265433 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
intron-3CDS | ENST00000518017 | ENST00000409330 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
intron-3CDS | ENST00000433566 | ENST00000265433 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
intron-3CDS | ENST00000433566 | ENST00000409330 | XPO7 | chr8 | 21777299 | + | NBN | chr8 | 90983518 | - |
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FusionProtFeatures for XPO7_NBN |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
XPO7 | NBN |
Mediates the nuclear export of proteins (cargos) withbroad substrate specificity. In the nucleus binds cooperatively toits cargo and to the GTPase Ran in its active GTP-bound form.Docking of this trimeric complex to the nuclear pore complex (NPC)is mediated through binding to nucleoporins. Upon transit of anuclear export complex into the cytoplasm, disassembling of thecomplex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1and RANGAP1, respectively) cause release of the cargo from theexport receptor. XPO7 then return to the nuclear compartment andmediate another round of transport. The directionality of nuclearexport is thought to be conferred by an asymmetric distribution ofthe GTP- and GDP-bound forms of Ran between the cytoplasm andnucleus. {ECO:0000269|PubMed:11024021,ECO:0000269|PubMed:15282546}. | Component of the MRE11-RAD50-NBN (MRN complex) whichplays a critical role in the cellular response to DNA damage andthe maintenance of chromosome integrity. The complex is involvedin double-strand break (DSB) repair, DNA recombination,maintenance of telomere integrity, cell cycle checkpoint controland meiosis. The complex possesses single-strand endonucleaseactivity and double-strand-specific 3'-5' exonuclease activity,which are provided by MRE11. RAD50 may be required to bind DNAends and hold them in close proximity. NBN modulate the DNA damagesignal sensing by recruiting PI3/PI4-kinase family members ATM,ATR, and probably DNA-PKcs to the DNA damage sites and activatingtheir functions. It can also recruit MRE11 and RAD50 to theproximity of DSBs by an interaction with the histone H2AX. NBNalso functions in telomere length maintenance by generating the 3'overhang which serves as a primer for telomerase dependenttelomere elongation. NBN is a major player in the control ofintra-S-phase checkpoint and there is some evidence that NBN isinvolved in G1 and G2 checkpoints. The roles of NBS1/MRN encompassDNA damage sensor, signal transducer, and effector, which enablecells to maintain DNA integrity and genomic stability. Forms acomplex with RBBP8 to link DNA double-strand break sensing toresection. Enhances AKT1 phosphorylation possibly by associationwith the mTORC2 complex. {ECO:0000269|PubMed:10888888,ECO:0000269|PubMed:15616588, ECO:0000269|PubMed:19759395,ECO:0000269|PubMed:23762398, ECO:0000269|PubMed:9705271}. |
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 XPO7_NBN |
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 XPO7_NBN |
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 |
XPO7 | PTP4A3, C20orf24, BRF2, DDX19B, MAPK9, PDPK1, TAB1, RAN, NUP153, SIRT7, XPO1, SEPHS1, VPS37B, USP14, TLK2, UBE2I, TLK1, XRN2, EGFR, CARS, DPYSL2, JMJD6, RANBP3, SEC24C, SF1, AP2B1, CARM1, CTNNA1, DNAJB1, EIF4B, FAF1, GARS, GART, GFPT1, HIRIP3, HIST1H4A, HSPH1, NARS, OSBP, PLOD2, PPM1G, PRMT3, SAMHD1, SEC23A, THUMPD3, TROVE2, TTC1, USP11, POLK, USO1, ENO1, MOV10, NXF1, CCDC8, BSG, CD274, VSIG2, NT5E, LYPD3, RP2, SCN2B, SCARA3, DSCR3, CCDC22, COMMD9, SH3GLB1, NTRK1, NPHP1, DAXX, FOXB1, FOXI2, CD70, VIPR2, FZD10, VASN, HTR2C, TMEM206, CDHR5, DLK2, CHRM4, OPRM1, APLNR, MAS1, EDNRB, VSIG1, SLC39A9, PDCD1, TMEM108, TRIM25 | NBN | BLM, MRE11A, BRCA1, RAD50, H2AFX, FANCD2, ATM, ATR, MLH1, MSH2, MSH6, RFC1, MDC1, TERF1, XRCC4, TERF2, RECQL5, MCPH1, DDX1, ATF2, WRN, PAXIP1, SIRT1, HIST1H3A, TOPBP1, KAT5, EP300, TUBG1, RAD18, BARD1, BACH1, UBE2A, UBE2B, CD3EAP, PRKDC, XRCC5, ATRIP, LIG3, HSPA4, IPO5, SKP2, CCNE1, MDM2, DCLRE1C, RBBP8, TLK1, TERF2IP, NCL, RNF8, UBE2D1, UBE2N, CBX8, RPA3, RPA2, RPA1, ATRX, MTOR, RICTOR, MAPKAP1, SUMO2, CELA2B, FAM219A, MDM4, PHRF1, BAP1, CASC3, NAT2, SNAI1, MED4, OFD1, HIST1H3E, BMI1, SLX4, VRK1, SNW1, CDC5L, DPPA4, NANOG, POU5F1, HIST3H3, EYA2, BMP1, RGS20, LZTS2, BRIP1, CHEK1, HDAC6, PARK2, 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 XPO7_NBN |
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 XPO7_NBN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | NBN | C0398791 | Nijmegen Breakage Syndrome | 3 | CTD_human;ORPHANET |
Tgene | NBN | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | NBN | C0006142 | Malignant neoplasm of breast | 1 | UNIPROT |
Tgene | NBN | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
Tgene | NBN | C0038362 | Stomatitis | 1 | CTD_human |