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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 38549

FusionGeneSummary for TMEM223_PDHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM223_PDHA1
Fusion gene ID: 38549
HgeneTgene
Gene symbol

TMEM223

PDHA1

Gene ID

79064

5160

Gene nametransmembrane protein 223pyruvate dehydrogenase E1 alpha 1 subunit
Synonyms-PDHA|PDHAD|PDHCE1A|PHE1A
Cytomap

11q12.3

Xp22.12

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 223pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialPDHE1-A type Ipyruvate dehydrogenase (lipoamide) alpha 1pyruvate dehydrogenase E1 subunitpyruvate dehydrogenase alpha 1pyruvate dehydrogenase complex, E1-alpha polypeptide
Modification date2018052320180523
UniProtAcc

A0PJW6

P08559

Ensembl transtripts involved in fusion geneENST00000527073, ENST00000525631, 
ENST00000307366, 		ENST00000545074, 
ENST00000540249, ENST00000379806, 
ENST00000422285, ENST00000379805, 
ENST00000379804, ENST00000478795, 
Fusion gene scores* DoF score4 X 2 X 4=326 X 5 X 4=120
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM223 [Title/Abstract] AND PDHA1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgenePDHA1

GO:0006099

tricarboxylic acid cycle

19081061


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AM746210TMEM223chr11

62559225

-PDHA1chrX

19372607

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000527073ENST00000545074TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000540249TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000379806TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000422285TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000379805TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000379804TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000527073ENST00000478795TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-3CDSENST00000525631ENST00000545074TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000540249TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000379806TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000422285TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000379805TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000379804TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000525631ENST00000478795TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-3CDSENST00000307366ENST00000545074TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000540249TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000379806TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000422285TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000379805TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000379804TMEM223chr11

62559225

-PDHA1chrX

19372607

+
intron-intronENST00000307366ENST00000478795TMEM223chr11

62559225

-PDHA1chrX

19372607

+

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FusionProtFeatures for TMEM223_PDHA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM223

A0PJW6

PDHA1

P08559


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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FusionGeneSequence for TMEM223_PDHA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TMEM223_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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RelatedDrugs for TMEM223_PDHA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TMEM223_PDHA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDHA1C1839413Pyruvate Dehydrogenase E1 Alpha Deficiency11ORPHANET;UNIPROT
TgenePDHA1C0001125Acidosis, Lactic1CTD_human
TgenePDHA1C0029408Degenerative polyarthritis1CTD_human
TgenePDHA1C0033578Prostatic Neoplasms1CTD_human
TgenePDHA1C0034345Pyruvate Dehydrogenase Complex Deficiency Disease1CTD_human
TgenePDHA1C0034350Pyruvate Metabolism, Inborn Errors1CTD_human
TgenePDHA1C0038356Stomach Neoplasms1CTD_human
TgenePDHA1C0151744Myocardial Ischemia1CTD_human