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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: 10888

FusionGeneSummary for ECE1_PTPN23

check button Fusion gene summary
Fusion gene informationFusion gene name: ECE1_PTPN23
Fusion gene ID: 10888
HgeneTgene
Gene symbol

ECE1

PTPN23

Gene ID

1889

25930

Gene nameendothelin converting enzyme 1protein tyrosine phosphatase, non-receptor type 23
SynonymsECEHD-PTP|HDPTP|PTP-TD14
Cytomap

1p36.12

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionendothelin-converting enzyme 1ECE-1tyrosine-protein phosphatase non-receptor type 23his domain-containing protein tyrosine phosphataseprotein tyrosine phosphatase TD14
Modification date2018051920180519
UniProtAcc

P42892

Q9H3S7

Ensembl transtripts involved in fusion geneENST00000415912, ENST00000357071, 
ENST00000374893, ENST00000436918, 
ENST00000264205, ENST00000528294, 
ENST00000431726, ENST00000265562, 
Fusion gene scores* DoF score13 X 11 X 6=8584 X 4 X 1=16
# samples 144
** MAII scorelog2(14/858*10)=-2.61555082055458
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ECE1 [Title/Abstract] AND PTPN23 [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
HgeneECE1

GO:0010814

substance P catabolic process

18039931

HgeneECE1

GO:0010815

bradykinin catabolic process

18039931

HgeneECE1

GO:0010816

calcitonin catabolic process

18039931

HgeneECE1

GO:0016485

protein processing

7805846

HgeneECE1

GO:0016486

peptide hormone processing

7864876

HgeneECE1

GO:0034959

endothelin maturation

7805846

HgeneECE1

GO:0042447

hormone catabolic process

7864876


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
ChiTaRS3.1R00228ECE1chr1

21543878

+PTPN23chr3

47454341

-
* 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-3CDSENST00000415912ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000415912ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000357071ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000357071ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000374893ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000374893ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000436918ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000436918ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000264205ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000264205ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000528294ENST00000431726ECE1chr1

21543878

+PTPN23chr3

47454341

-
intron-3CDSENST00000528294ENST00000265562ECE1chr1

21543878

+PTPN23chr3

47454341

-

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FusionProtFeatures for ECE1_PTPN23


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ECE1

P42892

PTPN23

Q9H3S7

Plays a role in sorting of endocytic ubiquitinatedcargos into multivesicular bodies (MVBs) via its interaction withthe ESCRT-I complex (endosomal sorting complex required fortransport I), and possibly also other ESCRT complexes. May act asa negative regulator of Ras-mediated mitogenic activity. Plays arole in ciliogenesis. {ECO:0000269|PubMed:18434552,ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:21757351}.

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 ECE1_PTPN23


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 ECE1_PTPN23


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 ECE1_PTPN23


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 ECE1_PTPN23


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneECE1C0018798Congenital Heart Defects2CTD_human
HgeneECE1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneECE1C0019569Hirschsprung Disease1CTD_human;HPO;ORPHANET
HgeneECE1C0020538Hypertensive disease1CTD_human
HgeneECE1C0376634Craniofacial Abnormalities1CTD_human
HgeneECE1C1145628Autonomic nervous system disorders1CTD_human;HPO
HgeneECE1C3151237Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction1UNIPROT