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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:ALDOA-PDHA1 (FusionGDB2 ID:4071)

Fusion Gene Summary for ALDOA-PDHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDOA-PDHA1
Fusion gene ID: 4071
HgeneTgene
Gene symbol

ALDOA

PDHA1

Gene ID

112694756

5160

Gene nameuncharaterized LOC112694756pyruvate dehydrogenase E1 subunit alpha 1
SynonymsALDA|ALDOAPDHA|PDHAD|PDHCE1A|PHE1A
Cytomap

-

Xp22.12

Type of geneprotein-codingprotein-coding
Descriptionuncharaterized LOC112694756Fructose-bisphosphate aldolase ALung cancer antigen NY-LU-1Muscle-type aldolasepyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialPDHE1-A type Ipyruvate dehydrogenase (lipoamide) alpha 1pyruvate dehydrogenase E1 alpha 1 subunitpyruvate dehydrogenase E1 subunitpyruvate dehydrogenase alpha 1pyruvate de
Modification date2020030320200313
UniProtAcc

P04075

.
Ensembl transtripts involved in fusion geneENST00000338110, ENST00000395248, 
ENST00000575627, ENST00000566897, 
ENST00000569545, ENST00000563060, 
ENST00000412304, ENST00000564546, 
ENST00000564595, ENST00000569798, 
ENST00000395240, 		ENST00000545074, 
ENST00000540249, ENST00000379806, 
ENST00000422285, ENST00000379805, 
ENST00000379804, ENST00000478795, 
Fusion gene scores* DoF score37 X 23 X 12=102128 X 8 X 4=256
# samples 429
** MAII scorelog2(42/10212*10)=-4.603732304741
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDOA [Title/Abstract] AND PDHA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDOA(30078604)-PDHA1(19372612), # samples:1
Anticipated loss of major functional domain due to fusion event.ALDOA-PDHA1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ALDOA-PDHA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ALDOA-PDHA1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ALDOA-PDHA1 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
TgenePDHA1

GO:0006086

acetyl-CoA biosynthetic process from pyruvate

19081061


check buttonFusion gene breakpoints across ALDOA (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 PDHA1 (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/ABF694498ALDOAchr16

30078604

+PDHA1chrX

19372612

+


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Fusion Gene ORF analysis for ALDOA-PDHA1

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-shiftENST00000338110ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000338110ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000395248ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395248ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-3CDSENST00000575627ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000575627ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000566897ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000566897ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000569545ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569545ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000563060ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000563060ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000412304ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000412304ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000564546ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564546ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000564595ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000564595ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000569798ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000569798ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+
Frame-shiftENST00000395240ENST00000545074ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000540249ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000379806ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000422285ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000379805ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000379804ALDOAchr16

30078604

+PDHA1chrX

19372612

+
5CDS-intronENST00000395240ENST00000478795ALDOAchr16

30078604

+PDHA1chrX

19372612

+

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 ALDOA-PDHA1


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 ALDOA-PDHA1


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: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). {ECO:0000250}.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 ALDOA-PDHA1


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 ALDOA-PDHA1


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 ALDOA-PDHA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDOAP04075DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneALDOAP04075DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneALDOAP04075DB01593ZincSmall moleculeApproved|Investigational
HgeneALDOAP04075DB01593ZincSmall moleculeApproved|Investigational
HgeneALDOAP04075DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneALDOAP04075DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneALDOAP04075DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
HgeneALDOAP04075DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational

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Related Diseases for ALDOA-PDHA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDOAC0272066Glycogen Storage Disease XII7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALDOAC0017919Glycogen Storage Disease3GENOMICS_ENGLAND
HgeneALDOAC0520572Enzymopathy2GENOMICS_ENGLAND
HgeneALDOAC0006142Malignant neoplasm of breast1CTD_human
HgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
HgeneALDOAC0027627Neoplasm Metastasis1CTD_human
HgeneALDOAC0151744Myocardial Ischemia1CTD_human
HgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALDOAC0678222Breast Carcinoma1CTD_human
HgeneALDOAC1257931Mammary Neoplasms, Human1CTD_human
HgeneALDOAC1458155Mammary Neoplasms1CTD_human
HgeneALDOAC4704874Mammary Carcinoma, Human1CTD_human
TgenePDHA1C1839413Pyruvate Dehydrogenase E1 Alpha Deficiency24GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePDHA1C0023264Leigh Disease8CLINGEN
TgenePDHA1C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY8CLINGEN
TgenePDHA1C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency8CLINGEN
TgenePDHA1C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency8CLINGEN
TgenePDHA1C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency8CLINGEN
TgenePDHA1C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency8CLINGEN
TgenePDHA1C2931891Necrotizing encephalopathy, infantile subacute, of Leigh8CLINGEN
TgenePDHA1C0034345Pyruvate Dehydrogenase Complex Deficiency Disease4CTD_human;ORPHANET
TgenePDHA1C0033578Prostatic Neoplasms2CTD_human
TgenePDHA1C0376358Malignant neoplasm of prostate2CTD_human
TgenePDHA1C0001125Acidosis, Lactic1CTD_human
TgenePDHA1C0024623Malignant neoplasm of stomach1CTD_human
TgenePDHA1C0029408Degenerative polyarthritis1CTD_human
TgenePDHA1C0034350Pyruvate Metabolism, Inborn Errors1CTD_human
TgenePDHA1C0038356Stomach Neoplasms1CTD_human
TgenePDHA1C0086743Osteoarthrosis Deformans1CTD_human
TgenePDHA1C0151744Myocardial Ischemia1CTD_human
TgenePDHA1C0235874Disease Exacerbation1CTD_human
TgenePDHA1C0751595Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease1CTD_human
TgenePDHA1C0751596Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal1CTD_human
TgenePDHA1C0751597Ataxia with Lactic Acidosis, Type I1CTD_human
TgenePDHA1C1708349Hereditary Diffuse Gastric Cancer1CTD_human