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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:PHF6-GPC3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PHF6-GPC3
FusionPDB ID: 64892
FusionGDB2.0 ID: 64892
HgeneTgene
Gene symbol

PHF6

GPC3

Gene ID

84295

2719

Gene namePHD finger protein 6glypican 3
SynonymsBFLS|BORJ|CENP-31DGSX|GTR2-2|MXR7|OCI-5|SDYS|SGB|SGBS|SGBS1
Cytomap

Xq26.2

Xq26.2

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 6PHD-like zinc finger proteincentromere protein 31glypican-3glypican proteoglycan 3heparan sulphate proteoglycanintestinal protein OCI-5secreted glypican-3
Modification date2020031320200315
UniProtAcc.

P51654

Ensembl transtripts involved in fusion geneENST idsENST00000332070, ENST00000370799, 
ENST00000370800, ENST00000370803, 
ENST00000394292, ENST00000416404, 
ENST00000370818, ENST00000394299, 
ENST00000543339, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 2=1812 X 11 X 6=792
# samples 312
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/792*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PHF6 [Title/Abstract] AND GPC3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PHF6(133527982)-GPC3(132888203), # samples:1
Anticipated loss of major functional domain due to fusion event.PHF6-GPC3 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.
PHF6-GPC3 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.
PHF6-GPC3 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.
PHF6-GPC3 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.
* 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
HgenePHF6

GO:0000122

negative regulation of transcription by RNA polymerase II

24554700

TgeneGPC3

GO:0060828

regulation of canonical Wnt signaling pathway

14610063

TgeneGPC3

GO:0090263

positive regulation of canonical Wnt signaling pathway

24496449

TgeneGPC3

GO:2000050

regulation of non-canonical Wnt signaling pathway

14610063


check buttonFusion gene breakpoints across PHF6 (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 GPC3 (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
ChimerDB4BLCATCGA-BL-A0C8-01APHF6chrX

133527982

+GPC3chrX

132888203

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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)
ENST00000370803PHF6chrX133527982+ENST00000370818GPC3chrX132888203-24646792612084607
ENST00000370803PHF6chrX133527982+ENST00000394299GPC3chrX132888203-25246792612153630
ENST00000370803PHF6chrX133527982+ENST00000543339GPC3chrX132888203-20856792612084607
ENST00000332070PHF6chrX133527982+ENST00000370818GPC3chrX132888203-24056202022025607
ENST00000332070PHF6chrX133527982+ENST00000394299GPC3chrX132888203-24656202022094630
ENST00000332070PHF6chrX133527982+ENST00000543339GPC3chrX132888203-20266202022025608
ENST00000394292PHF6chrX133527982+ENST00000370818GPC3chrX132888203-24056202022025607
ENST00000394292PHF6chrX133527982+ENST00000394299GPC3chrX132888203-24656202022094630
ENST00000394292PHF6chrX133527982+ENST00000543339GPC3chrX132888203-20266202022025608
ENST00000370799PHF6chrX133527982+ENST00000370818GPC3chrX132888203-23976121942017607
ENST00000370799PHF6chrX133527982+ENST00000394299GPC3chrX132888203-24576121942086630
ENST00000370799PHF6chrX133527982+ENST00000543339GPC3chrX132888203-20186121942017608
ENST00000416404PHF6chrX133527982+ENST00000370818GPC3chrX132888203-22684831671888573
ENST00000416404PHF6chrX133527982+ENST00000394299GPC3chrX132888203-23284831671957596
ENST00000416404PHF6chrX133527982+ENST00000543339GPC3chrX132888203-18894831671888574
ENST00000370800PHF6chrX133527982+ENST00000370818GPC3chrX132888203-23445591411964607
ENST00000370800PHF6chrX133527982+ENST00000394299GPC3chrX132888203-24045591412033630
ENST00000370800PHF6chrX133527982+ENST00000543339GPC3chrX132888203-19655591411964607

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
ENST00000370803ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.0016556110.9983444
ENST00000370803ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0016508890.9983491
ENST00000370803ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0023166660.9976833
ENST00000332070ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.001754790.99824524
ENST00000332070ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0017536930.9982463
ENST00000332070ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0024929210.99750715
ENST00000394292ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.001754790.99824524
ENST00000394292ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0017536930.9982463
ENST00000394292ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0024929210.99750715
ENST00000370799ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.0017393490.9982607
ENST00000370799ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0017403120.9982597
ENST00000370799ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0024611660.9975388
ENST00000416404ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.000897990.999102
ENST00000416404ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0011481060.9988519
ENST00000416404ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0014155650.9985845
ENST00000370800ENST00000370818PHF6chrX133527982+GPC3chrX132888203-0.0016267480.99837327
ENST00000370800ENST00000394299PHF6chrX133527982+GPC3chrX132888203-0.0016346590.99836534
ENST00000370800ENST00000543339PHF6chrX133527982+GPC3chrX132888203-0.0022929450.997707

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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

>64892_64892_1_PHF6-GPC3_PHF6_chrX_133527982_ENST00000332070_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_2_PHF6-GPC3_PHF6_chrX_133527982_ENST00000332070_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=630AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDE
EGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

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

>64892_64892_3_PHF6-GPC3_PHF6_chrX_133527982_ENST00000332070_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=608AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_4_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370799_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_5_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370799_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=630AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDE
EGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

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

>64892_64892_6_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370799_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=608AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_7_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370800_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_8_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370800_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=630AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDE
EGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

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

>64892_64892_9_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370800_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_10_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370803_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_11_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370803_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=630AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDE
EGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

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

>64892_64892_12_PHF6-GPC3_PHF6_chrX_133527982_ENST00000370803_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_13_PHF6-GPC3_PHF6_chrX_133527982_ENST00000394292_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=607AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_14_PHF6-GPC3_PHF6_chrX_133527982_ENST00000394292_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=630AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDE
EGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

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

>64892_64892_15_PHF6-GPC3_PHF6_chrX_133527982_ENST00000394292_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=608AA_BP=139
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGA
TIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVS
LYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTT
DHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQY
VQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCW
NGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGM

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

>64892_64892_16_PHF6-GPC3_PHF6_chrX_133527982_ENST00000416404_GPC3_chrX_132888203_ENST00000370818_length(amino acids)=573AA_BP=105
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIY
MVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGL
PDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGY
CNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLF
IDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEP
VVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDN

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

>64892_64892_17_PHF6-GPC3_PHF6_chrX_133527982_ENST00000416404_GPC3_chrX_132888203_ENST00000394299_length(amino acids)=596AA_BP=105
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIY
MVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGL
PDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGY
CNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQ
IGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQ
KAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLA

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

>64892_64892_18_PHF6-GPC3_PHF6_chrX_133527982_ENST00000416404_GPC3_chrX_132888203_ENST00000543339_length(amino acids)=574AA_BP=105
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIY
MVYCRKHKKTAHNSEEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGL
PDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGY
CNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLF
IDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEP
VVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDN

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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/chrX:133527982/chrX:132888203)
- 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
.GPC3

P51654

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 proteoglycan that bears heparan sulfate (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands (PubMed:16227623, PubMed:24496449). Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 (PubMed:17549790). Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity). {ECO:0000250|UniProtKB:Q6V9Y8, ECO:0000250|UniProtKB:Q8CFZ4, ECO:0000269|PubMed:14610063, ECO:0000269|PubMed:16227623, ECO:0000269|PubMed:17549790, ECO:0000269|PubMed:24496449}.

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
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+510129_133139.33333333333334366.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+51013_16139.33333333333334366.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+58129_133139.33333333333334313.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+5813_16139.33333333333334313.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+511129_133139.333333333333341337.6666666666667MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+51113_16139.333333333333341337.6666666666667MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+511129_133139.333333333333341358.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+51113_16139.333333333333341358.0MotifNuclear localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+51014_132139.33333333333334366.0RegionExtended PHD1 domain (ePHD1)
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+5814_132139.33333333333334313.0RegionExtended PHD1 domain (ePHD1)
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+51114_132139.333333333333341337.6666666666667RegionExtended PHD1 domain (ePHD1)
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+51114_132139.333333333333341358.0RegionExtended PHD1 domain (ePHD1)
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+51014_52139.33333333333334366.0Zinc fingerC2HC pre-PHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+51080_132139.33333333333334366.0Zinc fingerPHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+5814_52139.33333333333334313.0Zinc fingerC2HC pre-PHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+5880_132139.33333333333334313.0Zinc fingerPHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+51114_52139.333333333333341337.6666666666667Zinc fingerC2HC pre-PHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+51180_132139.333333333333341337.6666666666667Zinc fingerPHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+51114_52139.333333333333341358.0Zinc fingerC2HC pre-PHD-type 1
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+51180_132139.333333333333341358.0Zinc fingerPHD-type 1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+510157_169139.33333333333334366.0MotifNucleolar localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+58157_169139.33333333333334313.0MotifNucleolar localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+511157_169139.333333333333341337.6666666666667MotifNucleolar localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+511157_169139.333333333333341358.0MotifNucleolar localization signal
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+510209_330139.33333333333334366.0RegionExtended PHD2 domain (ePHD2)
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+58209_330139.33333333333334313.0RegionExtended PHD2 domain (ePHD2)
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+511209_330139.333333333333341337.6666666666667RegionExtended PHD2 domain (ePHD2)
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+511209_330139.333333333333341358.0RegionExtended PHD2 domain (ePHD2)
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+510209_249139.33333333333334366.0Zinc fingerC2HC pre-PHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000332070+510278_330139.33333333333334366.0Zinc fingerPHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+58209_249139.33333333333334313.0Zinc fingerC2HC pre-PHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000370800+58278_330139.33333333333334313.0Zinc fingerPHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+511209_249139.333333333333341337.6666666666667Zinc fingerC2HC pre-PHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000370803+511278_330139.333333333333341337.6666666666667Zinc fingerPHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+511209_249139.333333333333341358.0Zinc fingerC2HC pre-PHD-type 2
HgenePHF6chrX:133527982chrX:132888203ENST00000394292+511278_330139.333333333333341358.0Zinc fingerPHD-type 2


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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
PHF6
GPC3


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 PHF6-GPC3


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 PHF6-GPC3


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