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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: 11571

FusionGeneSummary for EMP1_ETV6

check button Fusion gene summary
Fusion gene informationFusion gene name: EMP1_ETV6
Fusion gene ID: 11571
HgeneTgene
Gene symbol

EMP1

ETV6

Gene ID

2012

2120

Gene nameepithelial membrane protein 1ETS variant 6
SynonymsCL-20|EMP-1|TMPTEL|TEL/ABL|THC5
Cytomap

12p13.1

12p13.2

Type of geneprotein-codingprotein-coding
Descriptionepithelial membrane protein 1tumor-associated membrane proteintranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)
Modification date2018052320180523
UniProtAcc

P54849

P41212

Ensembl transtripts involved in fusion geneENST00000256951, ENST00000537612, 
ENST00000431267, ENST00000544053, 
ENST00000542289, ENST00000396301, 
ENST00000396373, ENST00000544715, 
Fusion gene scores* DoF score4 X 4 X 2=329 X 9 X 4=324
# samples 412
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/324*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMP1 [Title/Abstract] AND ETV6 [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
HgeneEMP1

GO:0008219

cell death

12107182

HgeneEMP1

GO:0032060

bleb assembly

12107182

TgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502


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
TCGALDBRCATCGA-GI-A2C9-01AEMP1chr12

13349806

+ETV6chr12

12043875

+
* 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
5UTR-3CDSENST00000256951ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-intronENST00000256951ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+
intron-3CDSENST00000537612ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
intron-intronENST00000537612ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-3CDSENST00000431267ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-intronENST00000431267ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-3CDSENST00000544053ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-intronENST00000544053ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+
3UTR-3CDSENST00000542289ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
3UTR-intronENST00000542289ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-3CDSENST00000396301ENST00000396373EMP1chr12

13349806

+ETV6chr12

12043875

+
5UTR-intronENST00000396301ENST00000544715EMP1chr12

13349806

+ETV6chr12

12043875

+

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FusionProtFeatures for EMP1_ETV6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMP1

P54849

ETV6

P41212

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}.

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 EMP1_ETV6


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 EMP1_ETV6


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
EMP1CEP70, SMIM3, SYNE4ETV6KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2


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 EMP1_ETV6


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 EMP1_ETV6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEMP1C0000786Spontaneous abortion1CTD_human
HgeneEMP1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneEMP1C0033578Prostatic Neoplasms1CTD_human
HgeneEMP1C0041696Unipolar Depression1PSYGENET
HgeneEMP1C1269683Major Depressive Disorder1PSYGENET
TgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
TgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
TgeneETV6C0236969Substance-Related Disorders1CTD_human
TgeneETV6C0376545Hematologic Neoplasms1CTD_human
TgeneETV6C1838656Macrocytosis, Familial1CTD_human
TgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneETV6C3495559Juvenile arthritis1CTD_human
TgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT