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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: 36842

FusionGeneSummary for SVIL_PEAK1

check button Fusion gene summary
Fusion gene informationFusion gene name: SVIL_PEAK1
Fusion gene ID: 36842
HgeneTgene
Gene symbol

SVIL

PEAK1

Gene ID

6840

79834

Gene namesupervillinpseudopodium enriched atypical kinase 1
Synonyms-SGK269
Cytomap

10p11.23

15q24.3

Type of geneprotein-codingprotein-coding
Descriptionsupervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250pseudopodium-enriched atypical kinase 1NKF3 kinase family membersugen kinase 269tyrosine-protein kinase SgK269
Modification date2018051920180523
UniProtAcc

O95425

Q9H792

Ensembl transtripts involved in fusion geneENST00000375400, ENST00000375398, 
ENST00000355867, ENST00000535393, 
ENST00000460007, ENST00000538146, 
ENST00000560626, ENST00000558305, 
ENST00000567337, ENST00000312493, 
Fusion gene scores* DoF score8 X 8 X 4=2566 X 5 X 4=120
# samples 127
** MAII scorelog2(12/256*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SVIL [Title/Abstract] AND PEAK1 [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
TgenePEAK1

GO:0016477

cell migration

20534451

TgenePEAK1

GO:0034446

substrate adhesion-dependent cell spreading

20534451

TgenePEAK1

GO:0046777

protein autophosphorylation

20534451

TgenePEAK1

GO:0051893

regulation of focal adhesion assembly

23105102


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
ChiTaRS3.1BE933156SVILchr10

29811430

+PEAK1chr15

77473883

+
* 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-3CDSENST00000375400ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000375400ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000375400ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000375400ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000375398ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000375398ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000375398ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000375398ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000355867ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000355867ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000355867ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000355867ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000535393ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000535393ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000535393ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000535393ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000460007ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000460007ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000460007ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000460007ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000538146ENST00000560626SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-3CDSENST00000538146ENST00000558305SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000538146ENST00000567337SVILchr10

29811430

+PEAK1chr15

77473883

+
intron-intronENST00000538146ENST00000312493SVILchr10

29811430

+PEAK1chr15

77473883

+

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FusionProtFeatures for SVIL_PEAK1


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

O95425

PEAK1

Q9H792

Isoform 1: Forms a high-affinity link between the actincytoskeleton and the membrane. Is among the first costamericproteins to assemble during myogenesis and it contributes tomyogenic membrane structure and differentiation (PubMed:12711699).Appears to be involved in myosin II assembly. May modulate myosinII regulation through MLCK during cell spreading, an initial stepin cell migration. May play a role in invadopodial function(PubMed:19109420). {ECO:0000269|PubMed:12711699,ECO:0000269|PubMed:19109420}. Isoform 2: May be involved in modulation of focaladhesions. Supervillin-mediated down-regulation of focal adhesionsinvolves binding to TRIP6. Plays a role in cytokinesis throughKIF14 interaction (By similarity). {ECO:0000250|UniProtKB:O46385}. Probable catalytically inactive kinase. Scaffoldingprotein that regulates the cytoskeleton to control cell spreadingand migration by modulating focal adhesion dynamics(PubMed:23105102, PubMed:20534451). Acts as a scaffold formediating EGFR signaling (PubMed:23846654).{ECO:0000269|PubMed:20534451, ECO:0000269|PubMed:23105102,ECO:0000269|PubMed:23846654}.

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 SVIL_PEAK1


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 SVIL_PEAK1


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 SVIL_PEAK1


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 SVIL_PEAK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSVILC0023467Leukemia, Myelocytic, Acute1CTD_human