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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: 24679

FusionGeneSummary for NPC2_NPC2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPC2_NPC2
Fusion gene ID: 24679
HgeneTgene
Gene symbol

NPC2

NPC2

Gene ID

10577

10577

Gene nameNPC intracellular cholesterol transporter 2NPC intracellular cholesterol transporter 2
SynonymsEDDM1|HE1EDDM1|HE1
Cytomap

14q24.3

14q24.3

Type of geneprotein-codingprotein-coding
DescriptionNPC intracellular cholesterol transporter 2Niemann-Pick disease type C2 proteinepididymal protein 1human epididymis-specific protein 1tissue-specific secretory proteinNPC intracellular cholesterol transporter 2Niemann-Pick disease type C2 proteinepididymal protein 1human epididymis-specific protein 1tissue-specific secretory protein
Modification date2018052920180529
UniProtAcc

P61916

P61916

Ensembl transtripts involved in fusion geneENST00000434013, ENST00000541064, 
ENST00000555619, ENST00000238633, 
ENST00000557510, 
ENST00000434013, 
ENST00000541064, ENST00000555619, 
ENST00000238633, ENST00000557510, 
Fusion gene scores* DoF score5 X 4 X 3=602 X 2 X 1=4
# samples 52
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: NPC2 [Title/Abstract] AND NPC2 [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
HgeneNPC2

GO:0030301

cholesterol transport

17018531|18772377

HgeneNPC2

GO:0032366

intracellular sterol transport

17018531

HgeneNPC2

GO:0032367

intracellular cholesterol transport

17018531|18823126

HgeneNPC2

GO:0033344

cholesterol efflux

16141411

HgeneNPC2

GO:0042632

cholesterol homeostasis

12719428

TgeneNPC2

GO:0030301

cholesterol transport

17018531|18772377

TgeneNPC2

GO:0032366

intracellular sterol transport

17018531

TgeneNPC2

GO:0032367

intracellular cholesterol transport

17018531|18823126

TgeneNPC2

GO:0033344

cholesterol efflux

16141411

TgeneNPC2

GO:0042632

cholesterol homeostasis

12719428


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
ChiTaRS3.1BI018781NPC2chr14

74946785

-NPC2chr14

74951170

+
* 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
intron-3CDSENST00000434013ENST00000434013NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000434013ENST00000541064NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000434013ENST00000555619NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000434013ENST00000238633NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000434013ENST00000557510NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000541064ENST00000434013NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000541064ENST00000541064NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000541064ENST00000555619NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000541064ENST00000238633NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000541064ENST00000557510NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000555619ENST00000434013NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000555619ENST00000541064NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000555619ENST00000555619NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000555619ENST00000238633NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000555619ENST00000557510NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000238633ENST00000434013NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000238633ENST00000541064NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000238633ENST00000555619NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000238633ENST00000238633NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000238633ENST00000557510NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000557510ENST00000434013NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000557510ENST00000541064NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000557510ENST00000555619NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000557510ENST00000238633NPC2chr14

74946785

-NPC2chr14

74951170

+
intron-3CDSENST00000557510ENST00000557510NPC2chr14

74946785

-NPC2chr14

74951170

+

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FusionProtFeatures for NPC2_NPC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPC2

P61916

NPC2

P61916

Intracellular cholesterol transporter which acts inconcert with NPC1 and plays an important role in the egress ofcholesterol from the endosomal/lysosomal compartment. Both NPC1and NPC2 function as the cellular 'tag team duo' (TTD) to catalyzethe mobilization of cholesterol within the multivesicularenvironment of the late endosome (LE) to effect egress through thelimiting bilayer of the LE. NPC2 binds unesterified cholesterolthat has been released from LDLs in the lumen of the lateendosomes/lysosomes and transfers it to the cholesterol-bindingpocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomesto the ER and plasma membrane by an unknown mechanism. Thesecreted form of NCP2 regulates biliary cholesterol secretion viastimulation of ABCG5/ABCG8-mediated cholesterol transport.{ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377,ECO:0000269|PubMed:18823126}. Intracellular cholesterol transporter which acts inconcert with NPC1 and plays an important role in the egress ofcholesterol from the endosomal/lysosomal compartment. Both NPC1and NPC2 function as the cellular 'tag team duo' (TTD) to catalyzethe mobilization of cholesterol within the multivesicularenvironment of the late endosome (LE) to effect egress through thelimiting bilayer of the LE. NPC2 binds unesterified cholesterolthat has been released from LDLs in the lumen of the lateendosomes/lysosomes and transfers it to the cholesterol-bindingpocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomesto the ER and plasma membrane by an unknown mechanism. Thesecreted form of NCP2 regulates biliary cholesterol secretion viastimulation of ABCG5/ABCG8-mediated cholesterol transport.{ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377,ECO:0000269|PubMed:18823126}.

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 NPC2_NPC2


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 NPC2_NPC2


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


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 NPC2_NPC2


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 NPC2_NPC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPC2C1843366NIEMANN-PICK DISEASE, TYPE C24CTD_human;UNIPROT
TgeneNPC2C1843366NIEMANN-PICK DISEASE, TYPE C24CTD_human;UNIPROT