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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:TSC22D1-PLEKHA5 (FusionGDB2 ID:93845)

Fusion Gene Summary for TSC22D1-PLEKHA5

check button Fusion gene summary
Fusion gene informationFusion gene name: TSC22D1-PLEKHA5
Fusion gene ID: 93845
HgeneTgene
Gene symbol

TSC22D1

PLEKHA5

Gene ID

8848

54477

Gene nameTSC22 domain family member 1pleckstrin homology domain containing A5
SynonymsPtg-2|TGFB1I4|TSC22PEPP-2|PEPP2
Cytomap

13q14.11

12p12.3

Type of geneprotein-codingprotein-coding
DescriptionTSC22 domain family protein 1TGFB-stimulated clone 22 homologTGFbeta-stimulated clone 22cerebral protein 2regulatory protein TSC-22transcriptional regulator TSC-22transforming growth factor beta-1-induced transcript 4 proteintransforming growth facpleckstrin homology domain-containing family A member 5PH domain-containing family A member 5phosphoinositol 3-phosphate-binding protein-2pleckstrin homology domain containing, family A member 5
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000458659, ENST00000501704, 
ENST00000261489, ENST00000460842, 
ENST00000309364, ENST00000359180, 
ENST00000317589, ENST00000355397, 
ENST00000429027, ENST00000539256, 
ENST00000299275, ENST00000538714, 
ENST00000543806, ENST00000424268, 
ENST00000540972, ENST00000510738, 
Fusion gene scores* DoF score22 X 19 X 8=334424 X 16 X 15=5760
# samples 2530
** MAII scorelog2(25/3344*10)=-3.7415748474188
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/5760*10)=-4.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TSC22D1 [Title/Abstract] AND PLEKHA5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTSC22D1(45147299)-PLEKHA5(19427450), # samples:2
Anticipated loss of major functional domain due to fusion event.TSC22D1-PLEKHA5 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
TSC22D1-PLEKHA5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
TSC22D1-PLEKHA5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TSC22D1-PLEKHA5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across TSC22D1 (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 PLEKHA5 (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
ChimerDB4LUADTCGA-78-7161-01ATSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
ChimerDB4LUADTCGA-78-7161-01ATSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
ChimerDB4LUADTCGA-78-7161-01ATSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+


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Fusion Gene ORF analysis for TSC22D1-PLEKHA5

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
Frame-shiftENST00000458659ENST00000309364TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000359180TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000317589TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000355397TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000429027TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000539256TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000299275TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000538714TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000543806TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
Frame-shiftENST00000458659ENST00000424268TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5CDS-intronENST00000458659ENST00000540972TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5CDS-3UTRENST00000458659ENST00000510738TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000309364TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000359180TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000317589TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000355397TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000429027TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000539256TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000299275TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000538714TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000543806TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000501704ENST00000424268TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-intronENST00000501704ENST00000540972TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3UTRENST00000501704ENST00000510738TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000309364TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000359180TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000317589TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000355397TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000429027TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000539256TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000299275TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000538714TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000543806TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3CDSENST00000261489ENST00000424268TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-intronENST00000261489ENST00000540972TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-3UTRENST00000261489ENST00000510738TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000309364TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000359180TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000317589TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000355397TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000429027TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000539256TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000299275TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000538714TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000543806TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3CDSENST00000460842ENST00000424268TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-intronENST00000460842ENST00000540972TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
5UTR-3UTRENST00000460842ENST00000510738TSC22D1chr13

45147299

-PLEKHA5chr12

19427450

+
intron-intronENST00000458659ENST00000309364TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000359180TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000317589TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000355397TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000429027TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000539256TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000299275TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000538714TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000543806TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000424268TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000540972TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000458659ENST00000510738TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000309364TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000359180TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000317589TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000355397TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000429027TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000539256TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000299275TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000538714TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000543806TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000424268TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000540972TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000501704ENST00000510738TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000309364TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000359180TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000317589TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000355397TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000429027TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000539256TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000299275TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000538714TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000543806TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000424268TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000540972TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000261489ENST00000510738TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000309364TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000359180TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000317589TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000355397TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000429027TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000539256TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000299275TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000538714TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000543806TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000424268TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000540972TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+
intron-intronENST00000460842ENST00000510738TSC22D1chr13

45007661

-PLEKHA5chr12

19441012

+

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 TSC22D1-PLEKHA5


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)
TSC22D1chr1345147298-PLEKHA5chr1219427449+0.0002226740.9997774
TSC22D1chr1345147298-PLEKHA5chr1219427449+0.0002226740.9997774

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 TSC22D1-PLEKHA5


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
..
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: 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.

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 TSC22D1-PLEKHA5


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 TSC22D1-PLEKHA5


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 TSC22D1-PLEKHA5


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 TSC22D1-PLEKHA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSC22D1C0019207Hepatoma, Morris2CTD_human
HgeneTSC22D1C0019208Hepatoma, Novikoff2CTD_human
HgeneTSC22D1C0023904Liver Neoplasms, Experimental2CTD_human
HgeneTSC22D1C0086404Experimental Hepatoma2CTD_human
HgeneTSC22D1C0007097Carcinoma1CTD_human
HgeneTSC22D1C0007621Neoplastic Cell Transformation1CTD_human
HgeneTSC22D1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTSC22D1C0024667Animal Mammary Neoplasms1CTD_human
HgeneTSC22D1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneTSC22D1C0205696Anaplastic carcinoma1CTD_human
HgeneTSC22D1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneTSC22D1C0205698Undifferentiated carcinoma1CTD_human
HgeneTSC22D1C0205699Carcinomatosis1CTD_human
HgeneTSC22D1C1257925Mammary Carcinoma, Animal1CTD_human
TgenePLEKHA5C0008924Cleft upper lip1GENOMICS_ENGLAND