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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:SORBS1-CYP2C8 (FusionGDB2 ID:85169)

Fusion Gene Summary for SORBS1-CYP2C8

check button Fusion gene summary
Fusion gene informationFusion gene name: SORBS1-CYP2C8
Fusion gene ID: 85169
HgeneTgene
Gene symbol

SORBS1

CYP2C8

Gene ID

10580

1558

Gene namesorbin and SH3 domain containing 1cytochrome P450 family 2 subfamily C member 8
SynonymsCAP|FLAF2|R85FL|SH3D5|SH3P12|SORB1CPC8|CYP2C8DM|CYPIIC8|MP-12/MP-20
Cytomap

10q24.1

10q23.33

Type of geneprotein-codingprotein-coding
Descriptionsorbin and SH3 domain-containing protein 1Fas-ligand associated factor 2SH3 domain protein 5c-Cbl associated proteinponsincytochrome P450 2C8P450 form 1cytochrome P450 IIC2cytochrome P450 MP-12cytochrome P450 MP-20cytochrome P450 form 1cytochrome P450, family 2, subfamily C, polypeptide 8cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8flavopr
Modification date2020031320200320
UniProtAcc.

P10632

Ensembl transtripts involved in fusion geneENST00000306402, ENST00000347291, 
ENST00000353505, ENST00000371227, 
ENST00000371246, ENST00000371247, 
ENST00000371249, ENST00000393949, 
ENST00000474353, ENST00000607232, 
ENST00000277982, ENST00000354106, 
ENST00000361941, ENST00000371239, 
ENST00000371241, ENST00000371245, 
ENST00000371270, ENST00000539050, 
ENST00000535898, 
Fusion gene scores* DoF score14 X 12 X 5=8406 X 2 X 5=60
# samples 166
** MAII scorelog2(16/840*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: SORBS1 [Title/Abstract] AND CYP2C8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSORBS1(97250792)-CYP2C8(96827448), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneCYP2C8

GO:0002933

lipid hydroxylation

14559847

TgeneCYP2C8

GO:0006082

organic acid metabolic process

19651758

TgeneCYP2C8

GO:0008202

steroid metabolic process

14559847

TgeneCYP2C8

GO:0008210

estrogen metabolic process

12865317|14559847

TgeneCYP2C8

GO:0017144

drug metabolic process

19651758

TgeneCYP2C8

GO:0019373

epoxygenase P450 pathway

7574697

TgeneCYP2C8

GO:0042573

retinoic acid metabolic process

11093772

TgeneCYP2C8

GO:0042738

exogenous drug catabolic process

18619574

TgeneCYP2C8

GO:0046456

icosanoid biosynthetic process

15766564

TgeneCYP2C8

GO:0055114

oxidation-reduction process

19651758

TgeneCYP2C8

GO:0070989

oxidative demethylation

18619574


check buttonFusion gene breakpoints across SORBS1 (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 CYP2C8 (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
ChimerDB4SARCTCGA-DX-A48J-01ASORBS1chr10

97250792

-CYP2C8chr10

96827448

-


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Fusion Gene ORF analysis for SORBS1-CYP2C8

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
5UTR-3CDSENST00000306402ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000347291ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000353505ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000371227ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000371246ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000371247ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000371249ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000393949ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000474353ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-3CDSENST00000607232ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000306402ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000347291ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000353505ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000371227ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000371246ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000371247ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000371249ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000393949ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000474353ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-5UTRENST00000607232ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000306402ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000347291ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000353505ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000371227ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000371246ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000371247ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000371249ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000393949ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000474353ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
5UTR-intronENST00000607232ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000277982ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000354106ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000361941ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000371239ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000371241ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-3CDSENST00000371245ENST00000371270SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000277982ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000354106ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000361941ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000371239ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000371241ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-5UTRENST00000371245ENST00000539050SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000277982ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000354106ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000361941ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000371239ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000371241ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-
intron-intronENST00000371245ENST00000535898SORBS1chr10

97250792

-CYP2C8chr10

96827448

-

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 SORBS1-CYP2C8


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)

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 SORBS1-CYP2C8


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:97250792/:96827448)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CYP2C8

P10632

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}.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:7574697, PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond (PubMed:7574697, PubMed:15766564, PubMed:19965576). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes all trans-retinoic acid toward its 4-hydroxylated form (PubMed:11093772). Displays 16-alpha hydroxylase activity toward estrogen steroid hormones, 17beta-estradiol (E2) and estrone (E1) (PubMed:14559847). Plays a role in the oxidative metabolism of xenobiotics. It is the principal enzyme responsible for the metabolism of the anti-cancer drug paclitaxel (taxol) (PubMed:26427316). {ECO:0000269|PubMed:11093772, ECO:0000269|PubMed:14559847, ECO:0000269|PubMed:15766564, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:26427316, ECO:0000269|PubMed:7574697}.

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 SORBS1-CYP2C8


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 SORBS1-CYP2C8


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 SORBS1-CYP2C8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SORBS1-CYP2C8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource