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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 42196

FusionGeneSummary for XPO7_NBN

check button Fusion gene summary
Fusion gene informationFusion gene name: XPO7_NBN
Fusion gene ID: 42196
HgeneTgene
Gene symbol

XPO7

NBN

Gene ID

23039

9048

Gene nameexportin 7artemin
SynonymsEXP7|RANBP16ART|ENOVIN|EVN|NBN
Cytomap

8p21.3

1p34.1

Type of geneprotein-codingprotein-coding
Descriptionexportin-7RAN binding protein 16arteminneublastin
Modification date2018052320180519
UniProtAcc

Q9UIA9

O60934

Ensembl transtripts involved in fusion geneENST00000434536, ENST00000252512, 
ENST00000518017, ENST00000433566, 
ENST00000265433, ENST00000409330, 
Fusion gene scores* DoF score5 X 6 X 4=1201 X 1 X 1=1
# samples 71
** MAII scorelog2(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 annotationDDR (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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneXPO7

GO:0006611

protein export from nucleus

11024021


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-57-1585-01AXPO7chr8

21777299

+NBNchr8

90983518

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000434536ENST00000265433XPO7chr8

21777299

+NBNchr8

90983518

-
Frame-shiftENST00000434536ENST00000409330XPO7chr8

21777299

+NBNchr8

90983518

-
Frame-shiftENST00000252512ENST00000265433XPO7chr8

21777299

+NBNchr8

90983518

-
Frame-shiftENST00000252512ENST00000409330XPO7chr8

21777299

+NBNchr8

90983518

-
intron-3CDSENST00000518017ENST00000265433XPO7chr8

21777299

+NBNchr8

90983518

-
intron-3CDSENST00000518017ENST00000409330XPO7chr8

21777299

+NBNchr8

90983518

-
intron-3CDSENST00000433566ENST00000265433XPO7chr8

21777299

+NBNchr8

90983518

-
intron-3CDSENST00000433566ENST00000409330XPO7chr8

21777299

+NBNchr8

90983518

-

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FusionProtFeatures for XPO7_NBN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XPO7

Q9UIA9

NBN

O60934

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for XPO7_NBN


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
XPO7PTP4A3, 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, TRIM25NBNBLM, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for XPO7_NBN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for XPO7_NBN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNBNC0398791Nijmegen Breakage Syndrome3CTD_human;ORPHANET
TgeneNBNC0033578Prostatic Neoplasms2CTD_human
TgeneNBNC0006142Malignant neoplasm of breast1UNIPROT
TgeneNBNC0027643Neoplasm Recurrence, Local1CTD_human
TgeneNBNC0038362Stomatitis1CTD_human