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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PDHX-CD44

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PDHX-CD44
FusionPDB ID: 63873
FusionGDB2.0 ID: 63873
HgeneTgene
Gene symbol

PDHX

CD44

Gene ID

8050

960

Gene namepyruvate dehydrogenase complex component XCD44 molecule (Indian blood group)
SynonymsDLDBP|E3BP|OPDX|PDHXD|PDX1|proXCDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1
Cytomap

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptionpyruvate dehydrogenase protein X component, mitochondrialdihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complexlipoyl-containing pyruvate dehydrogenase complex component Xpyruvate dehydrogenase complex, E3-binding protein subuCD44 antigenGP90 lymphocyte homing/adhesion receptorHermes antigenIndian blood group antigencell surface glycoprotein CD44chondroitin sulfate proteoglycan 8epicanextracellular matrix receptor IIIhematopoietic cell E- and L-selectin ligandheparan
Modification date2020031320200329
UniProtAcc.

P16070

Ensembl transtripts involved in fusion geneENST idsENST00000227868, ENST00000430469, 
ENST00000448838, ENST00000477173, 
ENST00000278386, ENST00000352818, 
ENST00000360158, ENST00000415148, 
ENST00000428726, ENST00000433354, 
ENST00000433892, ENST00000434472, 
ENST00000437706, ENST00000449691, 
ENST00000526025, ENST00000526669, 
ENST00000528922, ENST00000263398, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 11 X 6=85812 X 14 X 4=672
# samples 1716
** MAII scorelog2(17/858*10)=-2.33544290136184
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/672*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PDHX [Title/Abstract] AND CD44 [Title/Abstract] AND fusion [Title/Abstract]

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study (pmid: 21194677)
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CD44(35211612)-PDHX(34952950), # samples:2
CD44(35211611)-PDHX(34952950), # samples:2
PDHX(34953031)-CD44(35236399), # samples:1
Anticipated loss of major functional domain due to fusion event.CD44-PDHX seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CD44-PDHX seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PDHX-CD44 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PDHX-CD44 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PDHX-CD44 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PDHX-CD44 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CD44-PDHX seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CD44-PDHX seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CD44-PDHX seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
TgeneCD44

GO:0007155

cell adhesion

19703720

TgeneCD44

GO:0016477

cell migration

22726066

TgeneCD44

GO:0030214

hyaluronan catabolic process

17170110

TgeneCD44

GO:0033138

positive regulation of peptidyl-serine phosphorylation

17045821

TgeneCD44

GO:0042110

T cell activation

7528188

TgeneCD44

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

17045821

TgeneCD44

GO:0044344

cellular response to fibroblast growth factor stimulus

19577615

TgeneCD44

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

17045821

TgeneCD44

GO:0070374

positive regulation of ERK1 and ERK2 cascade

17045821

TgeneCD44

GO:1902166

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

17045821


check buttonFusion gene breakpoints across PDHX (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CD44 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-CancerTCGA-IN-8462-11APDHXchr11

34953031

+CD44chr11

35236399

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000448838PDHXchr1134953031+ENST00000263398CD44chr1135236399+392643898856252
ENST00000227868PDHXchr1134953031+ENST00000263398CD44chr1135236399+381332554743229
ENST00000430469PDHXchr1134953031+ENST00000263398CD44chr1135236399+375326524683219

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
ENST00000448838ENST00000263398PDHXchr1134953031+CD44chr1135236399+0.0057949940.99420506
ENST00000227868ENST00000263398PDHXchr1134953031+CD44chr1135236399+0.0348532760.9651468
ENST00000430469ENST00000263398PDHXchr1134953031+CD44chr1135236399+0.0364175180.96358246

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>63873_63873_1_PDHX-CD44_PDHX_chr11_34953031_ENST00000227868_CD44_chr11_35236399_ENST00000263398_length(amino acids)=229AA_BP=1
MRAASEKAVKMAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKE
GDQDTFHPSGGSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIPEWLIILASLLALALILAVCIAVNSRRRCGQKKKLVINSGNGAVED

--------------------------------------------------------------

>63873_63873_2_PDHX-CD44_PDHX_chr11_34953031_ENST00000430469_CD44_chr11_35236399_ENST00000263398_length(amino acids)=219AA_BP=0
MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGDQDTFHPSG
GSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIPEWLIILASLLALALILAVCIAVNSRRRCGQKKKLVINSGNGAVEDRKPSGLNGEA

--------------------------------------------------------------

>63873_63873_3_PDHX-CD44_PDHX_chr11_34953031_ENST00000448838_CD44_chr11_35236399_ENST00000263398_length(amino acids)=252AA_BP=1
MRAASPGTTVSLPSITARHGPDQGPARPPISARLCARRLAWDTAARPQMQSGGAEGSPGAGRTGRGPGSGKAPPAEISSGAPDFPGGDPI
KILMPSLSPTMEEGNIVKWLKKEGDQDTFHPSGGSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIPEWLIILASLLALALILAVCIAV

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr11:35211612/chr11:34952950)
- 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
.CD44

P16070

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: Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment (PubMed:16541107, PubMed:19703720, PubMed:22726066). Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection (PubMed:7528188). Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases (PubMed:18757307, PubMed:23589287). Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signaling pathways promoting calcium mobilization and actin-mediated cytoskeleton reorganization essential for cell migration and adhesion (PubMed:15123640). {ECO:0000269|PubMed:15123640, ECO:0000269|PubMed:16541107, ECO:0000269|PubMed:18757307, ECO:0000269|PubMed:19703720, ECO:0000269|PubMed:22726066, ECO:0000269|PubMed:23589287, ECO:0000269|PubMed:7528188}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCD44chr11:34953031chr11:35236399ENST0000027838604150_1580140.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST0000035281808150_1580.0341.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000002783860432_1200140.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST000003528180832_1200.0341.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST0000026339849224_649222.33333333333334362.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST0000027838604224_6490140.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST0000035281808224_6490.0341.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST0000026339849671_742222.33333333333334362.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000002783860421_6490140.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST0000027838604671_7420140.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000003528180821_6490.0341.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST0000035281808671_7420.0341.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST00000360158510671_742257.3333333333333397.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000004151481217671_742560.3333333333334700.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000004287261318671_742603.3333333333334743.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST00000433892712671_742354.3333333333333494.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST00000434472510671_742290.3333333333333430.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000004377061217671_742535.3333333333334675.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST000004496911217671_742560.3333333333334700.0Topological domainCytoplasmic
TgeneCD44chr11:34953031chr11:35236399ENST0000026339849650_670222.33333333333334362.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST0000027838604650_6700140.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST0000035281808650_6700.0341.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST00000360158510650_670257.3333333333333397.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST000004151481217650_670560.3333333333334700.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST000004287261318650_670603.3333333333334743.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST00000433892712650_670354.3333333333333494.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST00000434472510650_670290.3333333333333430.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST000004377061217650_670535.3333333333334675.0TransmembraneHelical
TgeneCD44chr11:34953031chr11:35236399ENST000004496911217650_670560.3333333333334700.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePDHXchr11:34953031chr11:35236399ENST00000227868+211149_17080.33333333333333502.0Compositional biasNote=Pro-rich
HgenePDHXchr11:34953031chr11:35236399ENST00000430469+26149_17080.33333333333333275.0Compositional biasNote=Pro-rich
HgenePDHXchr11:34953031chr11:35236399ENST00000227868+211183_22080.33333333333333502.0DomainPeripheral subunit-binding (PSBD)
HgenePDHXchr11:34953031chr11:35236399ENST00000227868+21156_13280.33333333333333502.0DomainLipoyl-binding
HgenePDHXchr11:34953031chr11:35236399ENST00000430469+26183_22080.33333333333333275.0DomainPeripheral subunit-binding (PSBD)
HgenePDHXchr11:34953031chr11:35236399ENST00000430469+2656_13280.33333333333333275.0DomainLipoyl-binding
TgeneCD44chr11:34953031chr11:35236399ENST0000026339849150_158222.33333333333334362.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST00000360158510150_158257.3333333333333397.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000004151481217150_158560.3333333333334700.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000004287261318150_158603.3333333333334743.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST00000433892712150_158354.3333333333333494.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST00000434472510150_158290.3333333333333430.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000004377061217150_158535.3333333333334675.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000004496911217150_158560.3333333333334700.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneCD44chr11:34953031chr11:35236399ENST000002633984932_120222.33333333333334362.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST0000036015851032_120257.3333333333333397.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST00000415148121732_120560.3333333333334700.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST00000428726131832_120603.3333333333334743.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST0000043389271232_120354.3333333333333494.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST0000043447251032_120290.3333333333333430.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST00000437706121732_120535.3333333333334675.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST00000449691121732_120560.3333333333334700.0DomainLink
TgeneCD44chr11:34953031chr11:35236399ENST00000360158510224_649257.3333333333333397.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST000004151481217224_649560.3333333333334700.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST000004287261318224_649603.3333333333334743.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST00000433892712224_649354.3333333333333494.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST00000434472510224_649290.3333333333333430.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST000004377061217224_649535.3333333333334675.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST000004496911217224_649560.3333333333334700.0RegionNote=Stem
TgeneCD44chr11:34953031chr11:35236399ENST000002633984921_649222.33333333333334362.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST0000036015851021_649257.3333333333333397.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST00000415148121721_649560.3333333333334700.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST00000428726131821_649603.3333333333334743.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST0000043389271221_649354.3333333333333494.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST0000043447251021_649290.3333333333333430.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST00000437706121721_649535.3333333333334675.0Topological domainExtracellular
TgeneCD44chr11:34953031chr11:35236399ENST00000449691121721_649560.3333333333334700.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PDHX
CD44


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PDHX-CD44


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PDHX-CD44


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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