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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:FKBP1A-SDCBP2 (FusionGDB2 ID:30465)

Fusion Gene Summary for FKBP1A-SDCBP2

check button Fusion gene summary
Fusion gene informationFusion gene name: FKBP1A-SDCBP2
Fusion gene ID: 30465
HgeneTgene
Gene symbol

FKBP1A

SDCBP2

Gene ID

2280

27111

Gene nameFKBP prolyl isomerase 1Asyndecan binding protein 2
SynonymsFKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASESITAC|SITAC18|ST-2|ST2
Cytomap

20p13

20p13

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-prolyl cis-trans isomerase FKBP1A12 kDa FK506-binding protein12 kDa FKBPFK506 binding protein 1A, 12kDaFK506 binding protein12FK506-binding protein 1FK506-binding protein 12FK506-binding protein 1AFK506-binding protein, T-cell, 12-kDFKBPsyntenin-2syndecan binding protein (syntenin) 2
Modification date2020031320200313
UniProtAcc

P62942

.
Ensembl transtripts involved in fusion geneENST00000381724, ENST00000400137, 
ENST00000460490, ENST00000381715, 
ENST00000381719, ENST00000439640, 
ENST00000339987, ENST00000360779, 
ENST00000381812, ENST00000381808, 
ENST00000467129, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 2 X 4=32
# samples 74
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FKBP1A [Title/Abstract] AND SDCBP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFKBP1A(1352719)-SDCBP2(1301079), # samples:4
SDCBP2(1309729)-FKBP1A(1356247), # samples:1
SDCBP2(1306474)-FKBP1A(1356247), # 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
HgeneFKBP1A

GO:0000413

protein peptidyl-prolyl isomerization

1696686

HgeneFKBP1A

GO:0007183

SMAD protein complex assembly

16720724

HgeneFKBP1A

GO:0031398

positive regulation of protein ubiquitination

16720724

HgeneFKBP1A

GO:0032092

positive regulation of protein binding

18346205

HgeneFKBP1A

GO:0032515

negative regulation of phosphoprotein phosphatase activity

7592869

HgeneFKBP1A

GO:0032925

regulation of activin receptor signaling pathway

16720724

HgeneFKBP1A

GO:0051280

negative regulation of release of sequestered calcium ion into cytosol

12443530

HgeneFKBP1A

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

7592869

HgeneFKBP1A

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

12443530

HgeneFKBP1A

GO:0097435

supramolecular fiber organization

18346205

HgeneFKBP1A

GO:1990000

amyloid fibril formation

18346205


check buttonFusion gene breakpoints across FKBP1A (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 SDCBP2 (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
ChimerDB4Non-CancerSPNT_115FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
ChimerDB4Non-CancerSPNT_222FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-


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Fusion Gene ORF analysis for FKBP1A-SDCBP2

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
3UTR-5UTRENST00000381724ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-5UTRENST00000381724ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-5UTRENST00000381724ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-5UTRENST00000400137ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-5UTRENST00000400137ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-5UTRENST00000400137ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-intronENST00000381724ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-intronENST00000381724ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-intronENST00000400137ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
3UTR-intronENST00000400137ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
5UTR-5UTRENST00000460490ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
5UTR-5UTRENST00000460490ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
5UTR-5UTRENST00000460490ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
5UTR-intronENST00000460490ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
5UTR-intronENST00000460490ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381715ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381715ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381715ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381719ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381719ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000381719ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000439640ENST00000339987FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000439640ENST00000360779FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-5UTRENST00000439640ENST00000381812FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000381715ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000381715ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000381719ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000381719ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000439640ENST00000381808FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-
intron-intronENST00000439640ENST00000467129FKBP1Achr20

1352719

-SDCBP2chr20

1301079

-

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 FKBP1A-SDCBP2


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 FKBP1A-SDCBP2


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/:1352719/:1301079)
- 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
FKBP1A

P62942

.
FUNCTION: Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. {ECO:0000269|PubMed:16720724, ECO:0000269|PubMed:1696686, ECO:0000269|PubMed:1701173, ECO:0000269|PubMed:9233797}.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}.

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 FKBP1A-SDCBP2


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 FKBP1A-SDCBP2


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 FKBP1A-SDCBP2


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 FKBP1A-SDCBP2


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