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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: 12192

FusionGeneSummary for ETV6_TAOK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_TAOK1
Fusion gene ID: 12192
HgeneTgene
Gene symbol

ETV6

TAOK1

Gene ID

2120

57551

Gene nameETS variant 6TAO kinase 1
SynonymsTEL|TEL/ABL|THC5KFC-B|MAP3K16|MARKK|PSK-2|PSK2|TAO1|hKFC-B|hTAOK1
Cytomap

12p13.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)serine/threonine-protein kinase TAO1MARK KinaseSTE20-like kinase PSK2kinase from chicken homolog Bmicrotubule affinity regulating kinase kinaseprostate-derived STE20-like kinase 2prostate-derived sterile 20-like kinase 2serine/threonine protein kin
Modification date2018052320180523
UniProtAcc

P41212

Q7L7X3

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000261716, ENST00000536202, 
Fusion gene scores* DoF score23 X 26 X 11=65787 X 7 X 3=147
# samples 478
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND TAOK1 [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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502

TgeneTAOK1

GO:0006974

cellular response to DNA damage stimulus

17396146

TgeneTAOK1

GO:0046330

positive regulation of JNK cascade

16407310

TgeneTAOK1

GO:0097194

execution phase of apoptosis

16407310


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
ChiTaRS3.1JN603181ETV6chr12

11905514

+TAOK1chr17

27862544

-
* 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-intronENST00000396373ENST00000261716ETV6chr12

11905514

+TAOK1chr17

27862544

-
5CDS-intronENST00000396373ENST00000536202ETV6chr12

11905514

+TAOK1chr17

27862544

-
3UTR-intronENST00000544715ENST00000261716ETV6chr12

11905514

+TAOK1chr17

27862544

-
3UTR-intronENST00000544715ENST00000536202ETV6chr12

11905514

+TAOK1chr17

27862544

-

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FusionProtFeatures for ETV6_TAOK1


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

P41212

TAOK1

Q7L7X3

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Serine/threonine-protein kinase involved in variousprocesses such as p38/MAPK14 stress-activated MAPK cascade, DNAdamage response and regulation of cytoskeleton stability.Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator ofthe p38/MAPK14 stress-activated MAPK cascade by mediatingphosphorylation and subsequent activation of the upstream MAP2K3and MAP2K6 kinases. Involved in G-protein coupled receptorsignaling to p38/MAPK14. In response to DNA damage, involved inthe G2/M transition DNA damage checkpoint by activating thep38/MAPK14 stress-activated MAPK cascade, probably by mediatingphosphorylation of MAP2K3 and MAP2K6. Acts as a regulator ofcytoskeleton stability by phosphorylating 'Thr-208' of MARK2,leading to activate MARK2 kinase activity and subsequentphosphorylation and detachment of MAPT/TAU from microtubules. Alsoacts as a regulator of apoptosis: regulates apoptoticmorphological changes, including cell contraction, membraneblebbing and apoptotic bodies formation via activation of theMAPK8/JNK cascade. {ECO:0000269|PubMed:12665513,ECO:0000269|PubMed:13679851, ECO:0000269|PubMed:16407310,ECO:0000269|PubMed:17396146, ECO:0000269|PubMed:17900936}.

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_TAOK1


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_TAOK1


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 ETV6_TAOK1


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_TAOK1


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
TgeneTAOK1C0018781Noise-induced hearing loss1CTD_human