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:CHTF8-TBC1D22A (FusionGDB2 ID:HG54921TG25771)

Fusion Gene Summary for CHTF8-TBC1D22A

check button Fusion gene summary
Fusion gene informationFusion gene name: CHTF8-TBC1D22A
Fusion gene ID: hg54921tg25771
HgeneTgene
Gene symbol

CHTF8

TBC1D22A

Gene ID

54921

25771

Gene namechromosome transmission fidelity factor 8TBC1 domain family member 22A
SynonymsCTF8|DERPCC22orf4|HSC79E021
Cytomap('CHTF8')('TBC1D22A')

16q22.1

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionchromosome transmission fidelity protein 8 homologCTF8, chromosome transmission fidelity factor 8 homologdecreased expression in renal and prostate cancer proteinTBC1 domain family member 22Aputative GTPase activator
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000398235, ENST00000520529, 
ENST00000306585, ENST00000448552, 
ENST00000518041, ENST00000519520, 
ENST00000522091, ENST00000523421, 
ENST00000574807, 
Fusion gene scores* DoF score2 X 3 X 2=1222 X 24 X 11=5808
# samples 332
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(32/5808*10)=-4.18189764310839
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHTF8 [Title/Abstract] AND TBC1D22A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHTF8(69165992)-TBC1D22A(47569141), # samples:3
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
HgeneCHTF8

GO:1900264

positive regulation of DNA-directed DNA polymerase activity

12930902



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
ChimerDB4PRADTCGA-V1-A8WS-01ACHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
ChimerDB4PRADTCGA-V1-A8WSCHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
ChimerDB4PRADTCGA-V1-A8WSCHTF8chr16

69165992

-TBC1D22Achr22

47569141

+


Top

Fusion Gene ORF analysis for CHTF8-TBC1D22A

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-3CDSENST00000398235ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000398235ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-3CDSENST00000520529ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-3CDSENST00000520529ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000398235ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000398235ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000398235ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000398235ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000398235ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000398235ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000398235ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000398235ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000398235ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000398235ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000520529ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000520529ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000520529ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000520529ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000520529ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000520529ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000520529ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000520529ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
5UTR-intronENST00000520529ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
5UTR-intronENST00000520529ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000306585ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000306585ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000448552ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000448552ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000518041ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000518041ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000519520ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000519520ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000522091ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000522091ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000523421ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000523421ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-3CDSENST00000574807ENST00000337137CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-3CDSENST00000574807ENST00000337137CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000306585ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000306585ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000306585ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000306585ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000306585ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000306585ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000306585ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000306585ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000306585ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000306585ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000448552ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000448552ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000448552ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000448552ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000448552ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000448552ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000448552ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000448552ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000448552ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000448552ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000518041ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000518041ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000518041ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000518041ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000518041ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000518041ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000518041ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000518041ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000518041ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000518041ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000519520ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000519520ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000519520ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000519520ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000519520ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000519520ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000519520ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000519520ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000519520ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000519520ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000522091ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000522091ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000522091ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000522091ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000522091ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000522091ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000522091ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000522091ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000522091ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000522091ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000523421ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000523421ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000523421ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000523421ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000523421ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000523421ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000523421ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000523421ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000523421ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000523421ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000574807ENST00000355704CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000574807ENST00000355704CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000574807ENST00000380995CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000574807ENST00000380995CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000574807ENST00000406733CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000574807ENST00000406733CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000574807ENST00000407381CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000574807ENST00000407381CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+
intron-intronENST00000574807ENST00000472791CHTF8chr16

69165992

-TBC1D22Achr22

47569141

+
intron-intronENST00000574807ENST00000472791CHTF8chr16

69165991

-TBC1D22Achr22

47569140

+

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 CHTF8-TBC1D22A


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)
CHTF8chr1669165991-TBC1D22Achr2247569140+7.72E-101
CHTF8chr1669165991-TBC1D22Achr2247569140+7.72E-101
CHTF8chr1669165991-TBC1D22Achr2247569140+7.72E-101
CHTF8chr1669165991-TBC1D22Achr2247569140+7.72E-101


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 CHTF8-TBC1D22A


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/:69165992/:47569141)
- 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 CHTF8-TBC1D22A


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 CHTF8-TBC1D22A


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 CHTF8-TBC1D22A


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 CHTF8-TBC1D22A


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