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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: 12193

FusionGeneSummary for ETV6_YTHDF2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_YTHDF2
Fusion gene ID: 12193
HgeneTgene
Gene symbol

ETV6

YTHDF2

Gene ID

2120

51441

Gene nameETS variant 6YTH N6-methyladenosine RNA binding protein 2
SynonymsTEL|TEL/ABL|THC5CAHL|HGRG8|NY-REN-2
Cytomap

12p13.2

1p35.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)YTH domain-containing family protein 29430020E02RikCLL-associated antigen KW-14YTH N(6)-methyladenosine RNA binding protein 2YTH domain family, member 2high-glucose-regulated protein 8renal carcinoma antigen NY-REN-2
Modification date2018052320180519
UniProtAcc

P41212

Q9Y5A9

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000542507, ENST00000373812, 
ENST00000541996, ENST00000478283, 
Fusion gene scores* DoF score23 X 26 X 11=65787 X 3 X 5=105
# samples 478
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/105*10)=-0.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND YTHDF2 [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

TgeneYTHDF2

GO:1903679

positive regulation of cap-independent translational initiation

26458103


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-EW-A1PB-01AETV6chr12

11992238

+YTHDF2chr1

29095441

+
* 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-shitENST00000396373ENST00000542507ETV6chr12

11992238

+YTHDF2chr1

29095441

+
Frame-shitENST00000396373ENST00000373812ETV6chr12

11992238

+YTHDF2chr1

29095441

+
Frame-shitENST00000396373ENST00000541996ETV6chr12

11992238

+YTHDF2chr1

29095441

+
5CDS-3UTRENST00000396373ENST00000478283ETV6chr12

11992238

+YTHDF2chr1

29095441

+
intron-3CDSENST00000544715ENST00000542507ETV6chr12

11992238

+YTHDF2chr1

29095441

+
intron-3CDSENST00000544715ENST00000373812ETV6chr12

11992238

+YTHDF2chr1

29095441

+
intron-3CDSENST00000544715ENST00000541996ETV6chr12

11992238

+YTHDF2chr1

29095441

+
intron-3UTRENST00000544715ENST00000478283ETV6chr12

11992238

+YTHDF2chr1

29095441

+

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FusionProtFeatures for ETV6_YTHDF2


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

P41212

YTHDF2

Q9Y5A9

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Specifically recognizes and binds N6-methyladenosine(m6A)-containing RNAs, and regulates mRNA stability(PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is amodification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing(PubMed:22575960, PubMed:24284625, PubMed:25412658,PubMed:25412661). Acts as a regulator of mRNA stability: bindingto m6A-containing mRNAs results in the localization to mRNA decaysites, such as processing bodies (P-bodies), leading to mRNAdegradation (PubMed:24284625, PubMed:26046440). Requiredmaternally to regulate oocyte maturation: probably acts by bindingto m6A-containing mRNAs, thereby regulating maternal transcriptdosage during oocyte maturation, which is essential for thecompetence of oocytes to sustain early zygotic development (Bysimilarity). Also involved in haematopoietic stem cellsspecification: acts by binding to m6A-containing mRNAs, leading todecrease Notch dignaling and promote endothelial to haematopoietictransition (By similarity). Also acts as a promoter of cap-independent mRNA translation following heat shock stress: uponstress, relocalizes to the nucleus and specifically binds mRNAswith some m6A methylation mark at their 5'-UTR, protectingdemethylation of mRNAs by FTO, thereby promoting cap-independentmRNA translation (PubMed:26458103). May inhibit replication ofkaposis sarcoma-associated herpesvirus (KSHV); its role is howeverunclear and additional evidences are needed to confirm suchresults (PubMed:29109479). {ECO:0000250|UniProtKB:E7F1H9,ECO:0000250|UniProtKB:Q91YT7, ECO:0000269|PubMed:22575960,ECO:0000269|PubMed:24284625, ECO:0000269|PubMed:25412658,ECO:0000269|PubMed:25412661, ECO:0000269|PubMed:26046440,ECO:0000269|PubMed:26318451, ECO:0000269|PubMed:26458103,ECO:0000269|PubMed:29109479}. (Microbial infection) Promotes viral gene expression andreplication of polyomavirus SV40: acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29447282).{ECO:0000269|PubMed:29447282}. (Microbial infection) Promotes viral gene expression andvirion production of kaposis sarcoma-associated herpesvirus (KSHV)at some stage of the KSHV life cycle (in iSLK.219 and iSLK.BAC16cells) (PubMed:29659627). Acts by binding to N6-methyladenosine(m6A)-containing viral RNAs (PubMed:29659627).{ECO:0000269|PubMed:29659627}.

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_YTHDF2


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_YTHDF2


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, NFATC2YTHDF2HNRNPA1, HNRNPH1, MEPCE, POT1, ELAVL1, CUL3, CAND1, SMAD3, APP, ESR1, EPAS1, FN1, VCAM1, HIPK4, FBXO6, TARDBP, EIF3A, EIF3H, RPA3, RPA2, RPA1, RNF2, BMI1, RPS6KB2, AGL, HMBS, ASPSCR1, SEPT7, SFPQ, USP13, USP5, NTRK1, B9D2, DCTN1, CEP19, XPO1, RPL10, MCM2, OTUB1, G3BP1


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_YTHDF2


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_YTHDF2


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