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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: 12174

FusionGeneSummary for ETV6_BAZ2A

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_BAZ2A
Fusion gene ID: 12174
HgeneTgene
Gene symbol

ETV6

BAZ2A

Gene ID

2120

11176

Gene nameETS variant 6bromodomain adjacent to zinc finger domain 2A
SynonymsTEL|TEL/ABL|THC5TIP5|WALp3
Cytomap

12p13.2

12q13.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)bromodomain adjacent to zinc finger domain protein 2ATTF-I interacting peptide 5TTF-I-interacting protein 5transcription termination factor I-interacting protein 5
Modification date2018052320180519
UniProtAcc

P41212

Q9UIF9

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000379441, ENST00000179765, 
ENST00000551812, ENST00000549884, 
ENST00000553222, 
Fusion gene scores* DoF score23 X 26 X 11=65787 X 7 X 2=98
# samples 478
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/98*10)=-0.292781749227846
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND BAZ2A [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


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
ChiTaRS3.1AM181353ETV6chr12

11905514

+BAZ2Achr12

57020574

+
* 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-intronENST00000396373ENST00000379441ETV6chr12

11905514

+BAZ2Achr12

57020574

+
5CDS-intronENST00000396373ENST00000179765ETV6chr12

11905514

+BAZ2Achr12

57020574

+
5CDS-intronENST00000396373ENST00000551812ETV6chr12

11905514

+BAZ2Achr12

57020574

+
5CDS-intronENST00000396373ENST00000549884ETV6chr12

11905514

+BAZ2Achr12

57020574

+
5CDS-intronENST00000396373ENST00000553222ETV6chr12

11905514

+BAZ2Achr12

57020574

+
3UTR-intronENST00000544715ENST00000379441ETV6chr12

11905514

+BAZ2Achr12

57020574

+
3UTR-intronENST00000544715ENST00000179765ETV6chr12

11905514

+BAZ2Achr12

57020574

+
3UTR-intronENST00000544715ENST00000551812ETV6chr12

11905514

+BAZ2Achr12

57020574

+
3UTR-intronENST00000544715ENST00000549884ETV6chr12

11905514

+BAZ2Achr12

57020574

+
3UTR-intronENST00000544715ENST00000553222ETV6chr12

11905514

+BAZ2Achr12

57020574

+

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FusionProtFeatures for ETV6_BAZ2A


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

P41212

BAZ2A

Q9UIF9

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Essential component of the NoRC (nucleolar remodelingcomplex) complex, a complex that mediates silencing of a fractionof rDNA by recruiting histone-modifying enzymes and DNAmethyltransferases, leading to heterochromatin formation andtranscriptional silencing. In the complex, it plays a central roleby being recruited to rDNA and by targeting chromatin modifyingenzymes such as HDAC1, leading to repress RNA polymerase Itranscription. Recruited to rDNA via its interaction with TTF1 andits ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12acbut not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAsthat are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNAsilencing (By similarity). {ECO:0000250}.

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_BAZ2A


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_BAZ2A


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_BAZ2A


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_BAZ2A


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
TgeneBAZ2AC0033578Prostatic Neoplasms1CTD_human