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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: 12179

FusionGeneSummary for ETV6_EPB41L2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_EPB41L2
Fusion gene ID: 12179
HgeneTgene
Gene symbol

ETV6

EPB41L2

Gene ID

2120

2037

Gene nameETS variant 6erythrocyte membrane protein band 4.1 like 2
SynonymsTEL|TEL/ABL|THC54.1-G|4.1G
Cytomap

12p13.2

6q23.1-q23.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)band 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1
Modification date2018052320180523
UniProtAcc

P41212

O43491

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000528282, ENST00000530481, 
ENST00000445890, ENST00000337057, 
ENST00000530757, ENST00000392427, 
ENST00000368128, ENST00000527411, 
ENST00000524581, ENST00000525271, 
ENST00000525193, ENST00000527659, 
ENST00000529208, ENST00000531410, 
ENST00000530148, 
Fusion gene scores* DoF score23 X 26 X 11=65787 X 6 X 5=210
# samples 477
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND EPB41L2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneETV6

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
TCGARVSARCTCGA-DX-A23Y-01AETV6chr12

11803094

+EPB41L2chr6

131222320

-
* 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
Frame-shitENST00000396373ENST00000528282ETV6chr12

11803094

+EPB41L2chr6

131222320

-
Frame-shitENST00000396373ENST00000530481ETV6chr12

11803094

+EPB41L2chr6

131222320

-
Frame-shitENST00000396373ENST00000445890ETV6chr12

11803094

+EPB41L2chr6

131222320

-
Frame-shitENST00000396373ENST00000337057ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000530757ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000392427ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000368128ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000527411ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000524581ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000525271ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000525193ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000527659ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000529208ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-intronENST00000396373ENST00000531410ETV6chr12

11803094

+EPB41L2chr6

131222320

-
5CDS-5UTRENST00000396373ENST00000530148ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-3CDSENST00000544715ENST00000528282ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-3CDSENST00000544715ENST00000530481ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-3CDSENST00000544715ENST00000445890ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-3CDSENST00000544715ENST00000337057ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000530757ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000392427ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000368128ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000527411ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000524581ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000525271ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000525193ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000527659ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000529208ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-intronENST00000544715ENST00000531410ETV6chr12

11803094

+EPB41L2chr6

131222320

-
3UTR-5UTRENST00000544715ENST00000530148ETV6chr12

11803094

+EPB41L2chr6

131222320

-

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FusionProtFeatures for ETV6_EPB41L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

EPB41L2

O43491

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Required for dynein-dynactin complex and NUMA1recruitment at the mitotic cell cortex during anaphase(PubMed:23870127). {ECO:0000269|PubMed:23870127}.

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 ETV6_EPB41L2


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 ETV6_EPB41L2


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
ETV6KAT5, 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, NFATC2EPB41L2FKBP2, GRIA1, YWHAQ, NUMA1, YWHAZ, YWHAG, SIRT7, ATXN1L, APP, CALD1, COPS4, CSNK2A1, DCAF8, WDR77, CCDC8, ABCE1, DDAH2, EPB41L3, WWC1, LIN7A, HSPB1, NUP35, NSMAF, KLC4, PAX6, EGFR, EPB41L1, MLLT1, MLLT3, RNPS1, PNN, ACIN1, GPATCH8, CWC22, WDR59, SETD1A, ZRANB2, CLNS1A, SRRM2, CLK2, NKAP, SRP68, POTEI, AP3B1, PPIG, CYP2S1, GJB7, MLF1


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 ETV6_EPB41L2


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 ETV6_EPB41L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT
TgeneEPB41L2C0023893Liver Cirrhosis, Experimental1CTD_human