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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: 28796

FusionGeneSummary for PRKDC_SVIL

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKDC_SVIL
Fusion gene ID: 28796
HgeneTgene
Gene symbol

PRKDC

SVIL

Gene ID

5591

6840

Gene nameprotein kinase, DNA-activated, catalytic polypeptidesupervillin
SynonymsDNA-PKcs|DNAPK|DNPK1|HYRC|HYRC1|IMD26|XRCC7|p350-
Cytomap

8q11.21

10p11.23

Type of geneprotein-codingprotein-coding
DescriptionDNA-dependent protein kinase catalytic subunitDNA-PK catalytic subunithyper-radiosensitivity of murine scid mutation, complementing 1p460supervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250
Modification date2018052320180519
UniProtAcc

P78527

O95425

Ensembl transtripts involved in fusion geneENST00000338368, ENST00000314191, 
ENST00000523565, 
ENST00000375400, 
ENST00000375398, ENST00000355867, 
ENST00000535393, ENST00000460007, 
ENST00000538146, 
Fusion gene scores* DoF score17 X 20 X 10=340010 X 8 X 5=400
# samples 2212
** MAII scorelog2(22/3400*10)=-3.9499593175004
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/400*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKDC [Title/Abstract] AND SVIL [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
HgenePRKDC

GO:0002218

activation of innate immune response

28712728

HgenePRKDC

GO:0018105

peptidyl-serine phosphorylation

15194694|19303849


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
ChiTaRS3.1BF821929PRKDCchr8

48859603

+SVILchr10

29840056

-
* 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-3CDSENST00000338368ENST00000375400PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000338368ENST00000375398PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000338368ENST00000355867PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000338368ENST00000535393PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000338368ENST00000460007PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000338368ENST00000538146PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000314191ENST00000375400PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000314191ENST00000375398PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000314191ENST00000355867PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000314191ENST00000535393PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000314191ENST00000460007PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000314191ENST00000538146PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000523565ENST00000375400PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000523565ENST00000375398PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-3CDSENST00000523565ENST00000355867PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000523565ENST00000535393PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000523565ENST00000460007PRKDCchr8

48859603

+SVILchr10

29840056

-
intron-intronENST00000523565ENST00000538146PRKDCchr8

48859603

+SVILchr10

29840056

-

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FusionProtFeatures for PRKDC_SVIL


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

P78527

SVIL

O95425

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}.

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 PRKDC_SVIL


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 PRKDC_SVIL


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 PRKDC_SVIL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePRKDCP78527DB00201CaffeineDNA-dependent protein kinase catalytic subunitsmall moleculeapproved

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RelatedDiseases for PRKDC_SVIL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKDCC0033578Prostatic Neoplasms2CTD_human
HgenePRKDCC4014833IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES2ORPHANET;UNIPROT
HgenePRKDCC0001364Massive Hepatic Necrosis1CTD_human
HgenePRKDCC0007137Squamous cell carcinoma1CTD_human
HgenePRKDCC0010606Adenoid Cystic Carcinoma1CTD_human
HgenePRKDCC0019151Hepatic Encephalopathy1CTD_human
HgenePRKDCC0024115Lung diseases1CTD_human
HgenePRKDCC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneSVILC0023467Leukemia, Myelocytic, Acute1CTD_human