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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:RCC1-FKBP8 (FusionGDB2 ID:73186)

Fusion Gene Summary for RCC1-FKBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: RCC1-FKBP8
Fusion gene ID: 73186
HgeneTgene
Gene symbol

RCC1

FKBP8

Gene ID

1104

23770

Gene nameregulator of chromosome condensation 1FKBP prolyl isomerase 8
SynonymsCHC1|RCC1-I|SNHG3-RCC1FKBP38|FKBPr38
Cytomap

1p35.3

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionregulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing proteinpeptidyl-prolyl cis-trans isomerase FKBP838 kDa FK506-binding protein38 kDa FKBPFK506 binding protein 8, 38kDaFK506-binding protein 8FKBP-38FKBP-8PPIase FKBP8hFKBP38rotamase
Modification date2020031320200327
UniProtAcc

RCCD1

Q14318

Ensembl transtripts involved in fusion geneENST00000373833, ENST00000398958, 
ENST00000373831, ENST00000373832, 
ENST00000429051, 		ENST00000222308, 
ENST00000453489, ENST00000596558, 
ENST00000597960, ENST00000608443, 
ENST00000610101, 
Fusion gene scores* DoF score139 X 16 X 21=4670418 X 12 X 11=2376
# samples 13620
** MAII scorelog2(136/46704*10)=-5.10186755936457
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2376*10)=-3.57046293102604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RCC1 [Title/Abstract] AND FKBP8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRCC1(28834672)-FKBP8(18652805), # 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
HgeneRCC1

GO:0007052

mitotic spindle organization

15014043

HgeneRCC1

GO:0007088

regulation of mitotic nuclear division

15014043


check buttonFusion gene breakpoints across RCC1 (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 FKBP8 (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
ChimerDB4OVTCGA-36-1578RCC1chr1

28834672

+FKBP8chr19

18652805

-


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Fusion Gene ORF analysis for RCC1-FKBP8

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-5UTRENST00000373833ENST00000222308RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000373833ENST00000453489RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000373833ENST00000596558RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000373833ENST00000597960RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000373833ENST00000608443RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000373833ENST00000610101RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000222308RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000453489RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000596558RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000597960RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000608443RCC1chr1

28834672

+FKBP8chr19

18652805

-
5UTR-5UTRENST00000398958ENST00000610101RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000222308RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000453489RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000596558RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000597960RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000608443RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373831ENST00000610101RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000222308RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000453489RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000596558RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000597960RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000608443RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000373832ENST00000610101RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000222308RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000453489RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000596558RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000597960RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000608443RCC1chr1

28834672

+FKBP8chr19

18652805

-
intron-5UTRENST00000429051ENST00000610101RCC1chr1

28834672

+FKBP8chr19

18652805

-

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 RCC1-FKBP8


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 RCC1-FKBP8


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/:28834672/:18652805)
- 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
RCC1

RCCD1

FKBP8

Q14318

376FUNCTION: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. {ECO:0000269|PubMed:12510191, ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.

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 RCC1-FKBP8


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 RCC1-FKBP8


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 RCC1-FKBP8


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 RCC1-FKBP8


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