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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: 12178

FusionGeneSummary for ETV6_DUSP16

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_DUSP16
Fusion gene ID: 12178
HgeneTgene
Gene symbol

ETV6

DUSP16

Gene ID

2120

80824

Gene nameETS variant 6dual specificity phosphatase 16
SynonymsTEL|TEL/ABL|THC5MKP-7|MKP7
Cytomap

12p13.2

12p13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)dual specificity protein phosphatase 16MAP kinase phosphatase 7MAPK phosphatase-7mitogen-activated protein kinase phosphatase 7
Modification date2018052320180523
UniProtAcc

P41212

Q9BY84

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000228862, ENST00000298573, 
ENST00000545864, 
Fusion gene scores* DoF score23 X 26 X 11=65786 X 5 X 5=150
# samples 476
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND DUSP16 [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

TgeneDUSP16

GO:0016311

dephosphorylation

24531476


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
TCGARVPRADTCGA-KK-A8I9-01AETV6chr12

11905513

+DUSP16chr12

12672934

-
* 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-shitENST00000396373ENST00000228862ETV6chr12

11905513

+DUSP16chr12

12672934

-
Frame-shitENST00000396373ENST00000298573ETV6chr12

11905513

+DUSP16chr12

12672934

-
5CDS-intronENST00000396373ENST00000545864ETV6chr12

11905513

+DUSP16chr12

12672934

-
3UTR-3CDSENST00000544715ENST00000228862ETV6chr12

11905513

+DUSP16chr12

12672934

-
3UTR-3CDSENST00000544715ENST00000298573ETV6chr12

11905513

+DUSP16chr12

12672934

-
3UTR-intronENST00000544715ENST00000545864ETV6chr12

11905513

+DUSP16chr12

12672934

-

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FusionProtFeatures for ETV6_DUSP16


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

P41212

DUSP16

Q9BY84

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Dual specificity protein phosphatase involved in theinactivation of MAP kinases. Dephosphorylates MAPK10 bound toARRB2. {ECO:0000269|PubMed:11489891, ECO:0000269|PubMed:15888437}.

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_DUSP16


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_DUSP16


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, NFATC2DUSP16MAPK8IP1, MAPK8IP2, MAPK14, MAPK9, MAPK10, MAPK1, MAPK8, FBXW7, DUSP16, MLF1, PTGES3, NXF2, AIP, KCTD20, YWHAB, HSPB1, HIGD1A, ARF5, DNAJB1, VBP1, DUSP8, ERBB4


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_DUSP16


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_DUSP16


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
TgeneDUSP16C0023893Liver Cirrhosis, Experimental1CTD_human