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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: 35003

FusionGeneSummary for SMURF2P1_ASIC2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMURF2P1_ASIC2
Fusion gene ID: 35003
HgeneTgene
Gene symbol

SMURF2P1

ASIC2

Gene ID

107133516

40

Gene nameSMAD specific E3 ubiquitin protein ligase 2 pseudogene 1acid sensing ion channel subunit 2
Synonyms-ACCN|ACCN1|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1
Cytomap

17q11.2

17q11.2-q12

Type of genepseudoprotein-coding
Description-acid-sensing ion channel 2acid sensing (proton gated) ion channel 2amiloride-sensitive cation channel 1, neuronalbrain sodium channel 1mammalian degenerin homologneuronal amiloride-sensitive cation channel 1
Modification date2018032920180519
UniProtAcc

Q16515

Ensembl transtripts involved in fusion geneENST00000579301, ENST00000225823, 
ENST00000359872, ENST00000448983, 
Fusion gene scores* DoF score7 X 2 X 6=8410 X 9 X 5=450
# samples 712
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/450*10)=-1.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMURF2P1 [Title/Abstract] AND ASIC2 [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

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-AR-A255-01ASMURF2P1chr17

28937960

+ASIC2chr17

31439085

-
* 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
3UTR-3CDSENST00000579301ENST00000225823SMURF2P1chr17

28937960

+ASIC2chr17

31439085

-
3UTR-3CDSENST00000579301ENST00000359872SMURF2P1chr17

28937960

+ASIC2chr17

31439085

-
3UTR-5UTRENST00000579301ENST00000448983SMURF2P1chr17

28937960

+ASIC2chr17

31439085

-

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FusionProtFeatures for SMURF2P1_ASIC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMURF2P1

ASIC2

Q16515

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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.

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 SMURF2P1_ASIC2


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 SMURF2P1_ASIC2


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
SMURF2P1ASIC2ASIC3, STOM, ASIC1


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 SMURF2P1_ASIC2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneASIC2Q16515DB00594AmilorideAcid-sensing ion channel 2 {ECO:0000303|PubMed:10842183}small moleculeapproved

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RelatedDiseases for SMURF2P1_ASIC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneASIC2C0004352Autistic Disorder1CTD_human
TgeneASIC2C0021368Inflammation1CTD_human