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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: 15238

FusionGeneSummary for GPNMB_NUPL2

check button Fusion gene summary
Fusion gene informationFusion gene name: GPNMB_NUPL2
Fusion gene ID: 15238
HgeneTgene
Gene symbol

GPNMB

NUPL2

Gene ID

10457

11097

Gene nameglycoprotein nmbnucleoporin like 2
SynonymsHGFIN|NMB|PLCA3CG1|NLP-1|NLP_1|hCG1
Cytomap

7p15.3

7p15.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane glycoprotein NMBglycoprotein (transmembrane) nmbglycoprotein nmb-like proteinglycoprotein nonmetastatic melanoma protein Bhematopoietic growth factor inducible neurokinin-1osteoactivintransmembrane glycoprotein HGFINnucleoporin-like protein 2H_RG271G13.9NUP42 homolognucleoporin hCG1nucleoporin-like protein 1
Modification date2018052320180523
UniProtAcc

Q14956

O15504

Ensembl transtripts involved in fusion geneENST00000258733, ENST00000381990, 
ENST00000409458, ENST00000539136, 
ENST00000453162, ENST00000478451, 
ENST00000258742, ENST00000410002, 
ENST00000487595, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 2 X 2=12
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GPNMB [Title/Abstract] AND NUPL2 [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)

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

GO:0001818

negative regulation of cytokine production

19350579

HgeneGPNMB

GO:0001934

positive regulation of protein phosphorylation

22891158

HgeneGPNMB

GO:0030335

positive regulation of cell migration

20711474

HgeneGPNMB

GO:0031954

positive regulation of protein autophosphorylation

19350579

HgeneGPNMB

GO:0034103

regulation of tissue remodeling

25010402

HgeneGPNMB

GO:0042130

negative regulation of T cell proliferation

19350579

HgeneGPNMB

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

19350579


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
TCGALDBRCATCGA-E9-A1NA-01AGPNMBchr7

23293931

+NUPL2chr7

23224689

+
* 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
In-frameENST00000258733ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000258733ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
5CDS-3UTRENST00000258733ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000381990ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000381990ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
5CDS-3UTRENST00000381990ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000409458ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000409458ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
5CDS-3UTRENST00000409458ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3CDSENST00000539136ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3CDSENST00000539136ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3UTRENST00000539136ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000453162ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
In-frameENST00000453162ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
5CDS-3UTRENST00000453162ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3CDSENST00000478451ENST00000258742GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3CDSENST00000478451ENST00000410002GPNMBchr7

23293931

+NUPL2chr7

23224689

+
intron-3UTRENST00000478451ENST00000487595GPNMBchr7

23293931

+NUPL2chr7

23224689

+

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FusionProtFeatures for GPNMB_NUPL2


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

Q14956

NUPL2

O15504

Could be a melanogenic enzyme. {ECO:0000250}. Required for the export of mRNAs containing poly(A)tails from the nucleus into the cytoplasm. In case of infection byHIV-1, it may participate in the docking of viral Vpr at thenuclear envelope. {ECO:0000269|PubMed:10610322,ECO:0000269|PubMed:16000379}.

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
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+31164_66122561MotifCell attachment site
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+31164_66122573MotifCell attachment site
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07238_37840424Compositional biasNote=Ser-rich
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07218_21940424RepeatNote=FG 3
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07220_22140424RepeatNote=FG 4
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07265_26640424RepeatNote=FG 5
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07271_27240424RepeatNote=FG 6
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07288_28940424RepeatNote=FG 7
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07290_29140424RepeatNote=FG 8
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07311_31240424RepeatNote=FG 9
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07336_33740424RepeatNote=FG 10
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07345_34640424RepeatNote=FG 11
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07364_36540424RepeatNote=FG 12
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+0795_9640424RepeatNote=FG 2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+311320_332122561Compositional biasNote=Poly-Pro
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+311320_332122573Compositional biasNote=Poly-Pro
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+311240_327122561DomainPKD
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+311240_327122573DomainPKD
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+31122_486122561Topological domainExtracellular
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+311508_572122561Topological domainCytoplasmic
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+31122_486122573Topological domainExtracellular
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+311508_572122573Topological domainCytoplasmic
HgeneGPNMBchr7:23293931chr7:23224689ENST00000258733+311487_507122561TransmembraneHelical
HgeneGPNMBchr7:23293931chr7:23224689ENST00000381990+311487_507122573TransmembraneHelical
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+0714_1540424RepeatNote=FG 1
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+071_2540424Zinc fingerC3H1-type


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FusionGeneSequence for GPNMB_NUPL2


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 GPNMB_NUPL2


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
GPNMBITSN2, SMAD4, IL31RA, TFEB, FBXL4, LINC01139, EGFRNUPL2RAE1, APC, COPS5, NUP214, C9orf41, NUP35, MARK2, KPNB1, NCBP1, NUPL1, NUP153, CNOT1, NUP107, NXF2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+07365_42340424GLE1
TgeneNUPL2chr7:23293931chr7:23224689ENST00000258742+0794_17040424HIV-1 Vpr


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 GPNMB_NUPL2


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 GPNMB_NUPL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPNMBC0009404Colorectal Neoplasms2CTD_human
HgeneGPNMBC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneGPNMBC0162557Liver Failure, Acute1CTD_human
HgeneGPNMBC1458155Mammary Neoplasms1CTD_human
HgeneGPNMBC2609414Acute kidney injury1CTD_human