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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: 11782

FusionGeneSummary for EPC2_CSTA

check button Fusion gene summary
Fusion gene informationFusion gene name: EPC2_CSTA
Fusion gene ID: 11782
HgeneTgene
Gene symbol

EPC2

CSTA

Gene ID

26122

1475

Gene nameenhancer of polycomb homolog 2cystatin A
SynonymsEPC-LIKEAREI|PSS4|STF1|STFA
Cytomap

2q23.1

3q21.1

Type of geneprotein-codingprotein-coding
Descriptionenhancer of polycomb homolog 2cystatin-Acystatin A (stefin A)cystatin AS
Modification date2018052320180523
UniProtAcc

Q52LR7

P01040

Ensembl transtripts involved in fusion geneENST00000258484, ENST00000409654, 
ENST00000264474, ENST00000479204, 
Fusion gene scores* DoF score7 X 6 X 2=847 X 6 X 4=168
# samples 77
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPC2 [Title/Abstract] AND CSTA [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
TgeneCSTA

GO:0010466

negative regulation of peptidase activity

6203523

TgeneCSTA

GO:0018149

peptide cross-linking

10908733

TgeneCSTA

GO:0030216

keratinocyte differentiation

10908733

TgeneCSTA

GO:0045861

negative regulation of proteolysis

3488317


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
ChiTaRS3.1BE840750EPC2chr2

149528956

+CSTAchr3

122044130

+
* 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
5CDS-5UTRENST00000258484ENST00000264474EPC2chr2

149528956

+CSTAchr3

122044130

+
5CDS-5UTRENST00000258484ENST00000479204EPC2chr2

149528956

+CSTAchr3

122044130

+
intron-5UTRENST00000409654ENST00000264474EPC2chr2

149528956

+CSTAchr3

122044130

+
intron-5UTRENST00000409654ENST00000479204EPC2chr2

149528956

+CSTAchr3

122044130

+

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FusionProtFeatures for EPC2_CSTA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPC2

Q52LR7

CSTA

P01040

May play a role in transcription or DNA repair.{ECO:0000250}. This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}.

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 EPC2_CSTA


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 EPC2_CSTA


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 EPC2_CSTA


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 EPC2_CSTA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCSTAC0017636Glioblastoma1CTD_human
TgeneCSTAC0027627Neoplasm Metastasis1CTD_human
TgeneCSTAC2931822Nasopharyngeal carcinoma1CTD_human