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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-ALDOA (FusionGDB2 ID:93831)

Fusion Gene Summary for TSC22D1-ALDOA

check button Fusion gene summary
Fusion gene informationFusion gene name: TSC22D1-ALDOA
Fusion gene ID: 93831
HgeneTgene
Gene symbol

TSC22D1

ALDOA

Gene ID

8848

112694756

Gene nameTSC22 domain family member 1uncharaterized LOC112694756
SynonymsPtg-2|TGFB1I4|TSC22ALDA|ALDOA
Cytomap

13q14.11

-

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 facuncharaterized LOC112694756Fructose-bisphosphate aldolase ALung cancer antigen NY-LU-1Muscle-type aldolase
Modification date2020031320200303
UniProtAcc.

P04075

Ensembl transtripts involved in fusion geneENST00000458659, ENST00000501704, 
ENST00000261489, ENST00000460842, 
ENST00000338110, ENST00000395248, 
ENST00000575627, ENST00000566897, 
ENST00000569545, ENST00000563060, 
ENST00000412304, ENST00000564546, 
ENST00000564595, ENST00000569798, 
ENST00000395240, 
Fusion gene scores* DoF score22 X 19 X 8=334416 X 16 X 6=1536
# samples 2518
** MAII scorelog2(25/3344*10)=-3.7415748474188
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1536*10)=-3.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointTSC22D1(45008318)-ALDOA(30080184), # 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

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 ALDOA (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/ABI046797TSC22D1chr13

45008318

+ALDOAchr16

30080184

-


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Fusion Gene ORF analysis for TSC22D1-ALDOA

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-3CDSENST00000458659ENST00000338110TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000458659ENST00000395248TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000575627TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000566897TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000569545TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000563060TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000412304TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000564546TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000564595TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000569798TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000458659ENST00000395240TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000501704ENST00000338110TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000501704ENST00000395248TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000575627TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000566897TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000569545TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000563060TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000412304TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000564546TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000564595TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000569798TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000501704ENST00000395240TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000261489ENST00000338110TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000261489ENST00000395248TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000575627TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000566897TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000569545TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000563060TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000412304TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000564546TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000564595TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000569798TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000261489ENST00000395240TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000460842ENST00000338110TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-3CDSENST00000460842ENST00000395248TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000575627TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000566897TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000569545TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000563060TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000412304TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000564546TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000564595TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000569798TSC22D1chr13

45008318

+ALDOAchr16

30080184

-
intron-intronENST00000460842ENST00000395240TSC22D1chr13

45008318

+ALDOAchr16

30080184

-

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-ALDOA


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 TSC22D1-ALDOA


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
.ALDOA

P04075

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: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (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


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Fusion Gene Sequence for TSC22D1-ALDOA


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-ALDOA


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-ALDOA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALDOAP04075DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
TgeneALDOAP04075DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
TgeneALDOAP04075DB01593ZincSmall moleculeApproved|Investigational
TgeneALDOAP04075DB01593ZincSmall moleculeApproved|Investigational
TgeneALDOAP04075DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneALDOAP04075DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneALDOAP04075DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
TgeneALDOAP04075DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational

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Related Diseases for TSC22D1-ALDOA


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
TgeneALDOAC0272066Glycogen Storage Disease XII7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneALDOAC0017919Glycogen Storage Disease3GENOMICS_ENGLAND
TgeneALDOAC0520572Enzymopathy2GENOMICS_ENGLAND
TgeneALDOAC0006142Malignant neoplasm of breast1CTD_human
TgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
TgeneALDOAC0027627Neoplasm Metastasis1CTD_human
TgeneALDOAC0151744Myocardial Ischemia1CTD_human
TgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneALDOAC0678222Breast Carcinoma1CTD_human
TgeneALDOAC1257931Mammary Neoplasms, Human1CTD_human
TgeneALDOAC1458155Mammary Neoplasms1CTD_human
TgeneALDOAC4704874Mammary Carcinoma, Human1CTD_human