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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: 2992

FusionGeneSummary for ASIC2_ETV6

check button Fusion gene summary
Fusion gene informationFusion gene name: ASIC2_ETV6
Fusion gene ID: 2992
HgeneTgene
Gene symbol

ASIC2

ETV6

Gene ID

40

2120

Gene nameacid sensing ion channel subunit 2ETS variant 6
SynonymsACCN|ACCN1|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1TEL|TEL/ABL|THC5
Cytomap

17q11.2-q12

12p13.2

Type of geneprotein-codingprotein-coding
Descriptionacid-sensing ion channel 2acid sensing (proton gated) ion channel 2amiloride-sensitive cation channel 1, neuronalbrain sodium channel 1mammalian degenerin homologneuronal amiloride-sensitive cation channel 1transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)
Modification date2018051920180523
UniProtAcc

Q16515

P41212

Ensembl transtripts involved in fusion geneENST00000225823, ENST00000359872, 
ENST00000448983, 
ENST00000396373, 
ENST00000544715, 
Fusion gene scores* DoF score4 X 4 X 3=489 X 9 X 4=324
# samples 412
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/324*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASIC2 [Title/Abstract] AND ETV6 [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
TgeneETV6

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
ChiTaRS3.1BM728587ASIC2chr17

32337742

-ETV6chr12

12046788

+
* 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
intron-3UTRENST00000225823ENST00000396373ASIC2chr17

32337742

-ETV6chr12

12046788

+
intron-intronENST00000225823ENST00000544715ASIC2chr17

32337742

-ETV6chr12

12046788

+
intron-3UTRENST00000359872ENST00000396373ASIC2chr17

32337742

-ETV6chr12

12046788

+
intron-intronENST00000359872ENST00000544715ASIC2chr17

32337742

-ETV6chr12

12046788

+
intron-3UTRENST00000448983ENST00000396373ASIC2chr17

32337742

-ETV6chr12

12046788

+
intron-intronENST00000448983ENST00000544715ASIC2chr17

32337742

-ETV6chr12

12046788

+

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FusionProtFeatures for ASIC2_ETV6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASIC2

Q16515

ETV6

P41212

Cation channel with high affinity for sodium, which isgated by extracellular protons and inhibited by the diureticamiloride. Also permeable for Li(+) and K(+). Generates a biphasiccurrent with a fast inactivating and a slow sustained phase.Heteromeric channel assembly seems to modulate. Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}.

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 ASIC2_ETV6


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 ASIC2_ETV6


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 ASIC2_ETV6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneASIC2Q16515DB00594AmilorideAcid-sensing ion channel 2 {ECO:0000303|PubMed:10842183}small moleculeapproved

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RelatedDiseases for ASIC2_ETV6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASIC2C0004352Autistic Disorder1CTD_human
HgeneASIC2C0021368Inflammation1CTD_human
TgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
TgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
TgeneETV6C0236969Substance-Related Disorders1CTD_human
TgeneETV6C0376545Hematologic Neoplasms1CTD_human
TgeneETV6C1838656Macrocytosis, Familial1CTD_human
TgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneETV6C3495559Juvenile arthritis1CTD_human
TgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT