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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: 24675

FusionGeneSummary for NPC1_NPC1

check button Fusion gene summary
Fusion gene informationFusion gene name: NPC1_NPC1
Fusion gene ID: 24675
HgeneTgene
Gene symbol

NPC1

NPC1

Gene ID

4864

4864

Gene nameNPC intracellular cholesterol transporter 1NPC intracellular cholesterol transporter 1
SynonymsNPC|POGZ|SLC65A1NPC|POGZ|SLC65A1
Cytomap

18q11.2

18q11.2

Type of geneprotein-codingprotein-coding
DescriptionNPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1NPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1
Modification date2018051920180519
UniProtAcc

O15118

O15118

Ensembl transtripts involved in fusion geneENST00000269228, ENST00000412552, 
ENST00000540608, 
ENST00000269228, 
ENST00000412552, ENST00000540608, 
Fusion gene scores* DoF score4 X 4 X 4=646 X 5 X 4=120
# samples 56
** MAII scorelog2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPC1 [Title/Abstract] AND NPC1 [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
HgeneNPC1

GO:0006486

protein glycosylation

10821832

HgeneNPC1

GO:0030301

cholesterol transport

18772377

HgeneNPC1

GO:0033344

cholesterol efflux

16141411

HgeneNPC1

GO:0042632

cholesterol homeostasis

12719428

HgeneNPC1

GO:0090150

establishment of protein localization to membrane

23360953

TgeneNPC1

GO:0006486

protein glycosylation

10821832

TgeneNPC1

GO:0030301

cholesterol transport

18772377

TgeneNPC1

GO:0033344

cholesterol efflux

16141411

TgeneNPC1

GO:0042632

cholesterol homeostasis

12719428

TgeneNPC1

GO:0090150

establishment of protein localization to membrane

23360953


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
ChiTaRS3.1AW855630NPC1chr18

21137298

+NPC1chr18

21126866

+
* 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-intronENST00000269228ENST00000269228NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000269228ENST00000412552NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000269228ENST00000540608NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000412552ENST00000269228NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000412552ENST00000412552NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000412552ENST00000540608NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000540608ENST00000269228NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000540608ENST00000412552NPC1chr18

21137298

+NPC1chr18

21126866

+
intron-intronENST00000540608ENST00000540608NPC1chr18

21137298

+NPC1chr18

21126866

+

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FusionProtFeatures for NPC1_NPC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPC1

O15118

NPC1

O15118

Intracellular cholesterol transporter which acts inconcert with NPC2 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. Bindsoxysterol with higher affinity than cholesterol. May play a rolein vesicular trafficking in glia, a process that may be crucialfor maintaining the structural and functional integrity of nerveterminals. {ECO:0000269|PubMed:12554680,ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:19563754}. (Microbial infection) Acts as an endosomal entryreceptor for ebolavirus. {ECO:0000269|PubMed:21866103,ECO:0000269|PubMed:25855742}. Intracellular cholesterol transporter which acts inconcert with NPC2 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. Bindsoxysterol with higher affinity than cholesterol. May play a rolein vesicular trafficking in glia, a process that may be crucialfor maintaining the structural and functional integrity of nerveterminals. {ECO:0000269|PubMed:12554680,ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:19563754}. (Microbial infection) Acts as an endosomal entryreceptor for ebolavirus. {ECO:0000269|PubMed:21866103,ECO:0000269|PubMed:25855742}.

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 NPC1_NPC1


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 NPC1_NPC1


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 NPC1_NPC1


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 NPC1_NPC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPC1C3179455Niemann-Pick Disease, Type C116UNIPROT
HgeneNPC1C0220756Niemann-Pick Disease, Type C2CTD_human
HgeneNPC1C0004134Ataxia1CTD_human
HgeneNPC1C0004153Atherosclerosis1CTD_human
HgeneNPC1C0006309Brucellosis1CTD_human
HgeneNPC1C0013362Dysarthria1CTD_human;HPO
HgeneNPC1C0023890Liver Cirrhosis1CTD_human
HgeneNPC1C0023895Liver diseases1CTD_human
HgeneNPC1C0028754Obesity1CTD_human
HgeneNPC1C0029089Ophthalmoplegia1CTD_human
TgeneNPC1C3179455Niemann-Pick Disease, Type C116UNIPROT
TgeneNPC1C0220756Niemann-Pick Disease, Type C2CTD_human
TgeneNPC1C0004134Ataxia1CTD_human
TgeneNPC1C0004153Atherosclerosis1CTD_human
TgeneNPC1C0006309Brucellosis1CTD_human
TgeneNPC1C0013362Dysarthria1CTD_human;HPO
TgeneNPC1C0023890Liver Cirrhosis1CTD_human
TgeneNPC1C0023895Liver diseases1CTD_human
TgeneNPC1C0028754Obesity1CTD_human
TgeneNPC1C0029089Ophthalmoplegia1CTD_human