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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SCARB1-NCS1 (FusionGDB2 ID:79037)

Fusion Gene Summary for SCARB1-NCS1

check button Fusion gene summary
Fusion gene informationFusion gene name: SCARB1-NCS1
Fusion gene ID: 79037
HgeneTgene
Gene symbol

SCARB1

NCS1

Gene ID

949

23413

Gene namescavenger receptor class B member 1neuronal calcium sensor 1
SynonymsCD36L1|CLA-1|CLA1|HDLQTL6|SR-BI|SRB1FLUP|FREQ
Cytomap

12q24.31

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionscavenger receptor class B member 1CD36 and LIMPII analogous 1CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1scavenger receptor class B type IIIneuronal calcium sensor 1frequenin homologfrequenin-like proteinfrequenin-like ubiquitous protein
Modification date2020031320200313
UniProtAcc.

P62166

Ensembl transtripts involved in fusion geneENST00000339570, ENST00000415380, 
ENST00000261693, ENST00000376788, 
ENST00000546215, ENST00000535005, 
ENST00000541205, ENST00000540495, 
ENST00000544327, 
ENST00000372398, 
ENST00000493042, ENST00000458469, 
Fusion gene scores* DoF score11 X 8 X 8=7046 X 6 X 4=144
# samples 146
** MAII scorelog2(14/704*10)=-2.33014860169233
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCARB1 [Title/Abstract] AND NCS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSCARB1(125348140)-NCS1(132963236), # samples:1
Anticipated loss of major functional domain due to fusion event.SCARB1-NCS1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SCARB1-NCS1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSCARB1

GO:0010886

positive regulation of cholesterol storage

9211901

HgeneSCARB1

GO:0015920

lipopolysaccharide transport

12651854

HgeneSCARB1

GO:0032497

detection of lipopolysaccharide

12651854

HgeneSCARB1

GO:0034384

high-density lipoprotein particle clearance

9211901

HgeneSCARB1

GO:0043654

recognition of apoptotic cell

9211901

HgeneSCARB1

GO:0051000

positive regulation of nitric-oxide synthase activity

11792700


check buttonFusion gene breakpoints across SCARB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NCS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4ACCTCGA-OR-A5LHSCARB1chr12

125348140

-NCS1chr9

132963236

+


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Fusion Gene ORF analysis for SCARB1-NCS1

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-shiftENST00000339570ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000339570ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000339570ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
Frame-shiftENST00000415380ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000415380ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000415380ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
Frame-shiftENST00000261693ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000261693ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000261693ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
Frame-shiftENST00000376788ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000376788ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000376788ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
Frame-shiftENST00000546215ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000546215ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
5CDS-3UTRENST00000546215ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3CDSENST00000535005ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000535005ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000535005ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3CDSENST00000541205ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000541205ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000541205ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3CDSENST00000540495ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000540495ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000540495ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3CDSENST00000544327ENST00000372398SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000544327ENST00000493042SCARB1chr12

125348140

-NCS1chr9

132963236

+
intron-3UTRENST00000544327ENST00000458469SCARB1chr12

125348140

-NCS1chr9

132963236

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SCARB1-NCS1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SCARB1chr12125348140-NCS1chr9132963236+2.31E-050.999977
SCARB1chr12125348140-NCS1chr9132963236+2.31E-050.999977

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SCARB1-NCS1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NCS1

P62166

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for SCARB1-NCS1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SCARB1-NCS1


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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Related Drugs for SCARB1-NCS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNCS1P62166DB11348Calcium PhosphateLigandSmall moleculeApproved
TgeneNCS1P62166DB11348Calcium PhosphateLigandSmall moleculeApproved
TgeneNCS1P62166DB11348Calcium PhosphateLigandSmall moleculeApproved
TgeneNCS1P62166DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneNCS1P62166DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneNCS1P62166DB14481Calcium phosphate dihydrateSmall moleculeApproved
TgeneNCS1P62166DB11093Calcium citrateLigandSmall moleculeApproved|Investigational
TgeneNCS1P62166DB11093Calcium citrateLigandSmall moleculeApproved|Investigational
TgeneNCS1P62166DB11093Calcium citrateLigandSmall moleculeApproved|Investigational

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Related Diseases for SCARB1-NCS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSCARB1C0006868Cannabis Abuse1CTD_human
HgeneSCARB1C0006870Cannabis Dependence1CTD_human
HgeneSCARB1C0007097Carcinoma1CTD_human
HgeneSCARB1C0007134Renal Cell Carcinoma1CTD_human
HgeneSCARB1C0009171Cocaine Abuse1CTD_human
HgeneSCARB1C0016427Follicular cyst1CTD_human
HgeneSCARB1C0018614Hashish Abuse1CTD_human
HgeneSCARB1C0019196Hepatitis C1CTD_human
HgeneSCARB1C0022661Kidney Failure, Chronic1CTD_human
HgeneSCARB1C0024667Animal Mammary Neoplasms1CTD_human
HgeneSCARB1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneSCARB1C0024809Marijuana Abuse1CTD_human
HgeneSCARB1C0031391Phencyclidine Abuse1CTD_human
HgeneSCARB1C0205696Anaplastic carcinoma1CTD_human
HgeneSCARB1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneSCARB1C0205698Undifferentiated carcinoma1CTD_human
HgeneSCARB1C0205699Carcinomatosis1CTD_human
HgeneSCARB1C0236735Cannabis-Related Disorder1CTD_human
HgeneSCARB1C0236736Cocaine-Related Disorders1CTD_human
HgeneSCARB1C0236742Phencyclidine-Related Disorders1CTD_human
HgeneSCARB1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneSCARB1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneSCARB1C0600427Cocaine Dependence1CTD_human
HgeneSCARB1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneSCARB1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneSCARB1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneSCARB1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneSCARB1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneSCARB1C1853096HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 61CTD_human;GENOMICS_ENGLAND
HgeneSCARB1C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneNCS1C0005586Bipolar Disorder2PSYGENET
TgeneNCS1C0036341Schizophrenia2PSYGENET
TgeneNCS1C0600427Cocaine Dependence1PSYGENET