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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:PTPRC-BCAS3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PTPRC-BCAS3
FusionPDB ID: 70328
FusionGDB2.0 ID: 70328
HgeneTgene
Gene symbol

PTPRC

BCAS3

Gene ID

5788

54828

Gene nameprotein tyrosine phosphatase receptor type CBCAS3 microtubule associated cell migration factor
SynonymsB220|CD45|CD45R|GP180|L-CA|LCA|LY5|T200GAOB1|MAAB
Cytomap

1q31.3-q32.1

17q23.2

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase CCD45 antigenT200 glycoproteinT200 leukocyte common antigenprotein tyrosine phosphatase, receptor type, c polypeptidebreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1
Modification date2020032720200313
UniProtAcc.

Q9H6U6

Ensembl transtripts involved in fusion geneENST idsENST00000348564, ENST00000352140, 
ENST00000367364, ENST00000367376, 
ENST00000413409, ENST00000442510, 
ENST00000594404, ENST00000598951, 
ENST00000391970, 
ENST00000585812, 
ENST00000407086, ENST00000408905, 
ENST00000585744, ENST00000588462, 
ENST00000588874, ENST00000390652, 
ENST00000589222, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 3=10845 X 32 X 19=27360
# samples 653
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(53/27360*10)=-5.6899320603227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PTPRC [Title/Abstract] AND BCAS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PTPRC(198608471)-BCAS3(59469337), # samples:1
Anticipated loss of major functional domain due to fusion event.PTPRC-BCAS3 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.
PTPRC-BCAS3 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.
PTPRC-BCAS3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PTPRC-BCAS3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PTPRC-BCAS3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PTPRC-BCAS3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PTPRC-BCAS3 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
HgenePTPRC

GO:0006469

negative regulation of protein kinase activity

9197241

HgenePTPRC

GO:0032677

regulation of interleukin-8 production

12100025

HgenePTPRC

GO:0050764

regulation of phagocytosis

12100025

HgenePTPRC

GO:0050852

T cell receptor signaling pathway

10358156

HgenePTPRC

GO:0061097

regulation of protein tyrosine kinase activity

12100025

TgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

TgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

TgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


check buttonFusion gene breakpoints across PTPRC (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 BCAS3 (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-Cancer145NPTPRCchr1

198608471

+BCAS3chr17

59469337

+


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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)
ENST00000352140PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1093238313687124
ENST00000352140PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1100238313687124
ENST00000594404PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1093238313687124
ENST00000594404PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1100238313687124
ENST00000367376PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1093238313687124
ENST00000367376PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1100238313687124
ENST00000442510PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1069214289663124
ENST00000442510PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1076214289663124
ENST00000348564PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1014159234608124
ENST00000348564PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1021159234608124
ENST00000598951PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1093238313687124
ENST00000598951PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1100238313687124
ENST00000367364PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1012157232606124
ENST00000367364PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1019157232606124
ENST00000413409PTPRCchr1198608471+ENST00000589222BCAS3chr1759469337+1012157232606124
ENST00000413409PTPRCchr1198608471+ENST00000390652BCAS3chr1759469337+1019157232606124

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
ENST00000352140ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.86889530.13110468
ENST00000352140ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.87038320.12961678
ENST00000594404ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.86889530.13110468
ENST00000594404ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.87038320.12961678
ENST00000367376ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.86889530.13110468
ENST00000367376ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.87038320.12961678
ENST00000442510ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.858258660.1417413
ENST00000442510ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.86566560.1343344
ENST00000348564ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.927731750.072268225
ENST00000348564ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.925937830.074062094
ENST00000598951ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.86889530.13110468
ENST00000598951ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.87038320.12961678
ENST00000367364ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.92197590.07802412
ENST00000367364ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.921198670.078801356
ENST00000413409ENST00000589222PTPRCchr1198608471+BCAS3chr1759469337+0.92197590.07802412
ENST00000413409ENST00000390652PTPRCchr1198608471+BCAS3chr1759469337+0.921198670.078801356

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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

>70328_70328_1_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000348564_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_2_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000348564_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_3_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000352140_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_4_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000352140_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_5_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000367364_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_6_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000367364_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_7_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000367376_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_8_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000367376_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_9_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000413409_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_10_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000413409_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_11_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000442510_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_12_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000442510_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_13_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000594404_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_14_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000594404_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_15_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000598951_BCAS3_chr17_59469337_ENST00000390652_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

>70328_70328_16_PTPRC-BCAS3_PTPRC_chr1_198608471_ENST00000598951_BCAS3_chr17_59469337_ENST00000589222_length(amino acids)=124AA_BP=
MMATDLRCPPMRASPSASSRLASRRYQQPASDWPAPSPAGGGEKPRSGPTLQSLLFLHQPPSPSLVTAAAHPTWMEKRPFSKHLSALALC

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

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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/chr1:198608471/chr17:59469337)
- 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
.BCAS3

Q9H6U6

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 role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. {ECO:0000250|UniProtKB:Q8CCN5, ECO:0000269|PubMed:17505058}.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233391_48322.3333333333333321305.0DomainFibronectin type-III 1
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233484_57622.3333333333333321305.0DomainFibronectin type-III 2
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233653_91222.3333333333333321305.0DomainTyrosine-protein phosphatase 1
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233944_122822.3333333333333321305.0DomainTyrosine-protein phosphatase 2
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230391_48322.3333333333333321144.0DomainFibronectin type-III 1
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230484_57622.3333333333333321144.0DomainFibronectin type-III 2
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230653_91222.3333333333333321144.0DomainTyrosine-protein phosphatase 1
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230944_122822.3333333333333321144.0DomainTyrosine-protein phosphatase 2
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233853_85922.3333333333333321305.0RegionSubstrate binding
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230853_85922.3333333333333321144.0RegionSubstrate binding
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+23326_57722.3333333333333321305.0Topological domainExtracellular
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233599_130622.3333333333333321305.0Topological domainCytoplasmic
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+23026_57722.3333333333333321144.0Topological domainExtracellular
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230599_130622.3333333333333321144.0Topological domainCytoplasmic
HgenePTPRCchr1:198608471chr17:59469337ENST00000367376+233578_59822.3333333333333321305.0TransmembraneHelical
HgenePTPRCchr1:198608471chr17:59469337ENST00000594404+230578_59822.3333333333333321144.0TransmembraneHelical


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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
PTPRC
BCAS3


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 PTPRC-BCAS3


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 PTPRC-BCAS3


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