FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:RUVBL1-CCT5 (FusionGDB2 ID:78247)

Fusion Gene Summary for RUVBL1-CCT5

check button Fusion gene summary
Fusion gene informationFusion gene name: RUVBL1-CCT5
Fusion gene ID: 78247
HgeneTgene
Gene symbol

RUVBL1

CCT5

Gene ID

8607

22948

Gene nameRuvB like AAA ATPase 1chaperonin containing TCP1 subunit 5
SynonymsECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49ACCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon
Cytomap

3q21.3

5p15.2

Type of geneprotein-codingprotein-coding
DescriptionruvB-like 149 kDa TATA box-binding protein-interacting protein49 kDa TBP-interacting protein54 kDa erythrocyte cytosolic proteinINO80 complex subunit HRuvB (E coli homolog)-like 1RuvB-like AAA ATPaseTAP54-alphaTATA binding protein interacting protT-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69
Modification date2020032720200313
UniProtAcc.

P48643

Ensembl transtripts involved in fusion geneENST00000464873, ENST00000322623, 
ENST00000417360, ENST00000480616, 
ENST00000280326, ENST00000503026, 
ENST00000515390, ENST00000515676, 
ENST00000506600, 
Fusion gene scores* DoF score6 X 6 X 1=3658 X 14 X 17=13804
# samples 661
** MAII scorelog2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(61/13804*10)=-4.50013332598527
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RUVBL1 [Title/Abstract] AND CCT5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRUVBL1(127790242)-CCT5(10262662), # 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
HgeneRUVBL1

GO:0043967

histone H4 acetylation

14966270

HgeneRUVBL1

GO:0043968

histone H2A acetylation

14966270

HgeneRUVBL1

GO:0090263

positive regulation of canonical Wnt signaling pathway

11080158


check buttonFusion gene breakpoints across RUVBL1 (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 CCT5 (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
ChiTaRS5.0N/AAW105324RUVBL1chr3

127790242

-CCT5chr5

10262662

+


Top

Fusion Gene ORF analysis for RUVBL1-CCT5

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
intron-3CDSENST00000464873ENST00000280326RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000464873ENST00000503026RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000464873ENST00000515390RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000464873ENST00000515676RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000464873ENST00000506600RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000322623ENST00000280326RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000322623ENST00000503026RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000322623ENST00000515390RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000322623ENST00000515676RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000322623ENST00000506600RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000417360ENST00000280326RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000417360ENST00000503026RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000417360ENST00000515390RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000417360ENST00000515676RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000417360ENST00000506600RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000480616ENST00000280326RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000480616ENST00000503026RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000480616ENST00000515390RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000480616ENST00000515676RUVBL1chr3

127790242

-CCT5chr5

10262662

+
intron-3CDSENST00000480616ENST00000506600RUVBL1chr3

127790242

-CCT5chr5

10262662

+

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

Top

Fusion Genomic Features for RUVBL1-CCT5


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.

Top

Fusion Protein Features for RUVBL1-CCT5


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
.CCT5

P48643

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: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:25467444, ECO:0000305}.

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


Top

Fusion Gene Sequence for RUVBL1-CCT5


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.

Top

Fusion Gene PPI Analysis for RUVBL1-CCT5


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


Top

Related Drugs for RUVBL1-CCT5


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

Top

Related Diseases for RUVBL1-CCT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCCT5C1850395Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCCT5C0006142Malignant neoplasm of breast1CTD_human
TgeneCCT5C0019193Hepatitis, Toxic1CTD_human
TgeneCCT5C0019693HIV Infections1CTD_human
TgeneCCT5C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneCCT5C0678222Breast Carcinoma1CTD_human
TgeneCCT5C0860207Drug-Induced Liver Disease1CTD_human
TgeneCCT5C1257931Mammary Neoplasms, Human1CTD_human
TgeneCCT5C1262760Hepatitis, Drug-Induced1CTD_human
TgeneCCT5C1458155Mammary Neoplasms1CTD_human
TgeneCCT5C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneCCT5C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCCT5C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneCCT5C4505456HIV Coinfection1CTD_human
TgeneCCT5C4704874Mammary Carcinoma, Human1CTD_human