Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:CCT7-SMARCB1 (FusionGDB2 ID:HG10574TG6598)

Fusion Gene Summary for CCT7-SMARCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCT7-SMARCB1
Fusion gene ID: hg10574tg6598
HgeneTgene
Gene symbol

CCT7

SMARCB1

Gene ID

10574

6598

Gene namechaperonin containing TCP1 subunit 7SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SynonymsCCTETA|CCTH|NIP7-1|TCP1ETABAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS
Cytomap('CCT7')('SMARCB1')

2p13.2

22q11.23|22q11

Type of geneprotein-codingprotein-coding
DescriptionT-complex protein 1 subunit etaCCT-etaHIV-1 Nef interacting proteinTCP-1-etachaperonin containing t-complex polypeptide 1, eta subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1BRG1-associated factor 47SNF5 homologSWI/SNF-related matrix-associated proteinhSNF5integrase interactor 1 proteinmalignant rhabdoid tumor suppressorprotein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000473786, ENST00000258091, 
ENST00000398422, ENST00000540468, 
ENST00000537131, ENST00000538797, 
ENST00000539919, 
Fusion gene scores* DoF score10 X 9 X 6=54011 X 12 X 6=792
# samples 1217
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/792*10)=-2.21996568394191
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCT7 [Title/Abstract] AND SMARCB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCT7(73461512)-SMARCB1(24175758), # samples:1
Anticipated loss of major functional domain due to fusion event.CCT7-SMARCB1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CCT7-SMARCB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CCT7-SMARCB1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CCT7-SMARCB1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CCT7-SMARCB1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneSMARCB1

GO:0006337

nucleosome disassembly

8895581

TgeneSMARCB1

GO:0006338

chromatin remodeling

11726552

TgeneSMARCB1

GO:0039692

single stranded viral RNA replication via double stranded DNA intermediate

14963118

TgeneSMARCB1

GO:0045944

positive regulation of transcription by RNA polymerase II

11950834

TgeneSMARCB1

GO:0051091

positive regulation of DNA-binding transcription factor activity

11950834

TgeneSMARCB1

GO:1902661

positive regulation of glucose mediated signaling pathway

22368283



check button Fusion gene information
* 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
ChimerDB4LGGTCGA-DU-A5TSCCT7chr2

73461512

+SMARCB1chr22

24175758

+


Top

Fusion Gene ORF analysis for CCT7-SMARCB1

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-3CDSENST00000473786ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
3UTR-3CDSENST00000473786ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
3UTR-3CDSENST00000473786ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
3UTR-3CDSENST00000473786ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
3UTR-intronENST00000473786ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5CDS-intronENST00000258091ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5CDS-intronENST00000398422ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5CDS-intronENST00000540468ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000537131ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000537131ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000537131ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000537131ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000538797ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000538797ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000538797ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000538797ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000539919ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000539919ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000539919ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-3CDSENST00000539919ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-intronENST00000537131ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-intronENST00000538797ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
5UTR-intronENST00000539919ENST00000477836CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000258091ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000258091ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000258091ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000258091ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000398422ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000398422ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000398422ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000398422ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000540468ENST00000263121CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000540468ENST00000344921CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000540468ENST00000407082CCT7chr2

73461512

+SMARCB1chr22

24175758

+
Frame-shiftENST00000540468ENST00000407422CCT7chr2

73461512

+SMARCB1chr22

24175758

+

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 CCT7-SMARCB1


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)
CCT7chr273461512+SMARCB1chr2224175758+5.30E-060.99999475
CCT7chr273461512+SMARCB1chr2224175758+5.30E-060.99999475


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.
genomic feature of top 1%

Top

Fusion Protein Features for CCT7-SMARCB1


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/:73461512/:24175758)
- 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
..
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: 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


Top

Fusion Gene Sequence for CCT7-SMARCB1


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 CCT7-SMARCB1


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 CCT7-SMARCB1


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 CCT7-SMARCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCT7C0019693HIV Infections1CTD_human
HgeneCCT7C0024623Malignant neoplasm of stomach1CTD_human
HgeneCCT7C0038356Stomach Neoplasms1CTD_human
HgeneCCT7C0235874Disease Exacerbation1CTD_human
HgeneCCT7C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCCT7C4505456HIV Coinfection1CTD_human
TgeneC0206743Rhabdoid Tumor10CGI;CLINGEN;CTD_human
TgeneC1836327RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)10CLINGEN;CTD_human;GENOMICS_ENGLAND
TgeneC1266184Atypical Teratoid Rhabdoid Tumor8CLINGEN;ORPHANET
TgeneC1836326Teratoid Tumor, Atypical8CLINGEN
TgeneC2750405Malignant Rhabdoid Tumor, Somatic8CLINGEN;CTD_human
TgeneC1335929Schwannomatosis4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3553248MENTAL RETARDATION, AUTOSOMAL DOMINANT 153GENOMICS_ENGLAND;UNIPROT
TgeneC0917817Neurofibromatosis 32ORPHANET
TgeneC2931480Neurofibromatosis, Type 3, mixed central and peripheral2ORPHANET
TgeneC0025286Meningioma1ORPHANET
TgeneC0265338Coffin-Siris syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC2985524Rhabdoid tumor predisposition syndrome1ORPHANET
TgeneC4048809SCHWANNOMATOSIS 11CTD_human