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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: 11959

FusionGeneSummary for ERC1_PRKDC

check button Fusion gene summary
Fusion gene informationFusion gene name: ERC1_PRKDC
Fusion gene ID: 11959
HgeneTgene
Gene symbol

ERC1

PRKDC

Gene ID

23085

5591

Gene nameELKS/RAB6-interacting/CAST family member 1protein kinase, DNA-activated, catalytic polypeptide
SynonymsCast2|ELKS|ERC-1|RAB6IP2DNA-PKcs|DNAPK|DNPK1|HYRC|HYRC1|IMD26|XRCC7|p350
Cytomap

12p13.33

8q11.21

Type of geneprotein-codingprotein-coding
DescriptionELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2DNA-dependent protein kinase catalytic subunitDNA-PK catalytic subunithyper-radiosensitivity of murine scid mutation, complementing 1p460
Modification date2018052220180523
UniProtAcc

Q8IUD2

P78527

Ensembl transtripts involved in fusion geneENST00000543086, ENST00000546231, 
ENST00000397203, ENST00000360905, 
ENST00000589028, ENST00000355446, 
ENST00000536573, 
ENST00000338368, 
ENST00000314191, ENST00000523565, 
Fusion gene scores* DoF score20 X 16 X 12=384012 X 14 X 4=672
# samples 2315
** MAII scorelog2(23/3840*10)=-4.06140054466414
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/672*10)=-2.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERC1 [Title/Abstract] AND PRKDC [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
HgeneERC1

GO:0007252

I-kappaB phosphorylation

15218148

TgenePRKDC

GO:0002218

activation of innate immune response

28712728

TgenePRKDC

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
ChiTaRS3.1BE931170ERC1chr12

1372250

-PRKDCchr8

48722211

-
* 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-intronENST00000543086ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000543086ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000543086ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000546231ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000546231ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000546231ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000397203ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000397203ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000397203ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000360905ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000360905ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000360905ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000589028ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000589028ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000589028ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000355446ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000355446ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
5CDS-intronENST00000355446ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-
intron-intronENST00000536573ENST00000338368ERC1chr12

1372250

-PRKDCchr8

48722211

-
intron-intronENST00000536573ENST00000314191ERC1chr12

1372250

-PRKDCchr8

48722211

-
intron-intronENST00000536573ENST00000523565ERC1chr12

1372250

-PRKDCchr8

48722211

-

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FusionProtFeatures for ERC1_PRKDC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERC1

Q8IUD2

PRKDC

P78527


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 ERC1_PRKDC


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 ERC1_PRKDC


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 ERC1_PRKDC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePRKDCP78527DB00201CaffeineDNA-dependent protein kinase catalytic subunitsmall moleculeapproved

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RelatedDiseases for ERC1_PRKDC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKDCC0033578Prostatic Neoplasms2CTD_human
TgenePRKDCC4014833IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES2ORPHANET;UNIPROT
TgenePRKDCC0001364Massive Hepatic Necrosis1CTD_human
TgenePRKDCC0007137Squamous cell carcinoma1CTD_human
TgenePRKDCC0010606Adenoid Cystic Carcinoma1CTD_human
TgenePRKDCC0019151Hepatic Encephalopathy1CTD_human
TgenePRKDCC0024115Lung diseases1CTD_human
TgenePRKDCC4277682Chemical and Drug Induced Liver Injury1CTD_human