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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:NPC1-OSBPL1A (FusionGDB2 ID:HG4864TG114876) |
Fusion Gene Summary for NPC1-OSBPL1A |
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Fusion gene information | Fusion gene name: NPC1-OSBPL1A | Fusion gene ID: hg4864tg114876 | Hgene | Tgene | Gene symbol | NPC1 | OSBPL1A | Gene ID | 4864 | 114876 |
Gene name | NPC intracellular cholesterol transporter 1 | oxysterol binding protein like 1A | |
Synonyms | NPC|POGZ|SLC65A1 | ORP-1|ORP1|OSBPL1B | |
Cytomap | ('NPC1')('OSBPL1A') 18q11.2 | 18q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | NPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1 | oxysterol-binding protein-related protein 1OSBP-related protein 1oxysterol binding protein-like 1Boxysterol-binding protein-related protein 1 variant 1oxysterol-binding protein-related protein 1 variant 2 | |
Modification date | 20200315 | 20200313 | |
UniProtAcc | O15118 | . | |
Ensembl transtripts involved in fusion gene | ENST00000269228, ENST00000412552, ENST00000540608, | ||
Fusion gene scores | * DoF score | 7 X 10 X 8=560 | 18 X 15 X 10=2700 |
# samples | 12 | 19 | |
** MAII score | log2(12/560*10)=-2.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/2700*10)=-3.82888808360725 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NPC1 [Title/Abstract] AND OSBPL1A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | NPC1(21113319)-OSBPL1A(21957499), # samples:1 NPC1(21113319)-OSBPL1A(21883682), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | NPC1-OSBPL1A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NPC1 | GO:0006486 | protein glycosylation | 10821832 |
Hgene | NPC1 | GO:0030301 | cholesterol transport | 18772377 |
Hgene | NPC1 | GO:0033344 | cholesterol efflux | 16141411 |
Hgene | NPC1 | GO:0042632 | cholesterol homeostasis | 12719428 |
Hgene | NPC1 | GO:0090150 | establishment of protein localization to membrane | 23360953 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | PRAD | TCGA-EJ-5524-01A | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
ChimerDB4 | UCEC | TCGA-AJ-A3NH-01A | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
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Fusion Gene ORF analysis for NPC1-OSBPL1A |
![]() * 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 |
5CDS-5UTR | ENST00000269228 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000269228 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-5UTR | ENST00000269228 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000269228 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000412552 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000412552 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-5UTR | ENST00000412552 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000412552 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000269228 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000269228 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-intron | ENST00000269228 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-intron | ENST00000269228 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000269228 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-intron | ENST00000412552 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000412552 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-intron | ENST00000412552 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
5CDS-intron | ENST00000412552 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000412552 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
Frame-shift | ENST00000269228 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
Frame-shift | ENST00000412552 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
intron-3CDS | ENST00000540608 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
intron-5UTR | ENST00000540608 | ENST00000319481 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
intron-5UTR | ENST00000540608 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
intron-5UTR | ENST00000540608 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
intron-5UTR | ENST00000540608 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
intron-intron | ENST00000540608 | ENST00000357041 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
intron-intron | ENST00000540608 | ENST00000399441 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
intron-intron | ENST00000540608 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
intron-intron | ENST00000540608 | ENST00000399443 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21957499 | - |
intron-intron | ENST00000540608 | ENST00000582618 | NPC1 | chr18 | 21113319 | - | OSBPL1A | chr18 | 21883682 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NPC1-OSBPL1A |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for NPC1-OSBPL1A |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:21113319/:21957499) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
NPC1 | . |
FUNCTION: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:12554680, ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:19563754, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760, ECO:0000269|PubMed:9211849, ECO:0000269|PubMed:9927649, ECO:0000305}.; FUNCTION: (Microbial infection) Acts as an endosomal entry receptor for ebolavirus. {ECO:0000269|PubMed:21866103, ECO:0000269|PubMed:25855742, ECO:0000269|PubMed:32855215}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for NPC1-OSBPL1A |
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Fusion Gene PPI Analysis for NPC1-OSBPL1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NPC1-OSBPL1A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NPC1-OSBPL1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NPC1 | C3179455 | Niemann-Pick Disease, Type C1 | 26 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | NPC1 | C0220756 | Niemann-Pick Disease, Type C | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | NPC1 | C0268247 | Niemann-Pick Disease, Type D | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | NPC1 | C0004134 | Ataxia | 1 | CTD_human |
Hgene | NPC1 | C0004153 | Atherosclerosis | 1 | CTD_human |
Hgene | NPC1 | C0006309 | Brucellosis | 1 | CTD_human |
Hgene | NPC1 | C0013362 | Dysarthria | 1 | CTD_human |
Hgene | NPC1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Hgene | NPC1 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | NPC1 | C0028754 | Obesity | 1 | CTD_human |
Hgene | NPC1 | C0029089 | Ophthalmoplegia | 1 | CTD_human |
Hgene | NPC1 | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | NPC1 | C0162292 | External Ophthalmoplegia | 1 | CTD_human |
Hgene | NPC1 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Hgene | NPC1 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Hgene | NPC1 | C0240952 | Dysarthria, Scanning | 1 | CTD_human |
Hgene | NPC1 | C0240991 | Ataxia, Sensory | 1 | CTD_human |
Hgene | NPC1 | C0278161 | Ataxia, Motor | 1 | CTD_human |
Hgene | NPC1 | C0339693 | Internal Ophthalmoplegia | 1 | CTD_human |
Hgene | NPC1 | C0427190 | Ataxia, Truncal | 1 | CTD_human |
Hgene | NPC1 | C0454596 | Dysarthria, Spastic | 1 | CTD_human |
Hgene | NPC1 | C0454597 | Dysarthria, Flaccid | 1 | CTD_human |
Hgene | NPC1 | C0454598 | Dysarthria, Mixed | 1 | CTD_human |
Hgene | NPC1 | C0520966 | Abnormal coordination | 1 | CTD_human |
Hgene | NPC1 | C0750937 | Ataxia, Appendicular | 1 | CTD_human |
Hgene | NPC1 | C0750940 | Tremor, Rubral | 1 | CTD_human |
Hgene | NPC1 | C0751401 | Ophthalmoparesis | 1 | CTD_human |
Hgene | NPC1 | C1563666 | Dysarthria, Guttural | 1 | CTD_human |
Hgene | NPC1 | C1563937 | Atherogenesis | 1 | CTD_human |
Hgene | NPC1 | C2231324 | Brucellosis, Pulmonary | 1 | CTD_human |
Hgene | NPC1 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |