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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: 10085

FusionGeneSummary for DLG1_PCSK5

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG1_PCSK5
Fusion gene ID: 10085
HgeneTgene
Gene symbol

DLG1

PCSK5

Gene ID

1739

5125

Gene namediscs large MAGUK scaffold protein 1proprotein convertase subtilisin/kexin type 5
SynonymsDLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlgPC5|PC6|PC6A|SPC6
Cytomap

3q29

9q21.13

Type of geneprotein-codingprotein-coding
Descriptiondisks large homolog 1discs large homolog 1, scribble cell polarity complex componentdiscs, large homolog 1 transcript variant 6-v1discs, large homolog 1 transcript variant 6-v2presynaptic protein SAP97synapse-associated protein 97proprotein convertase subtilisin/kexin type 5prohormone convertase 5proprotein convertase 6protease PC6subtilasesubtilisin/kexin-like protease PC5
Modification date2018052320180522
UniProtAcc

Q12959

Q92824

Ensembl transtripts involved in fusion geneENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 
ENST00000545128, 
ENST00000376767, ENST00000376752, 
Fusion gene scores* DoF score20 X 10 X 13=26003 X 3 X 3=27
# samples 233
** MAII scorelog2(23/2600*10)=-3.49880585697144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DLG1 [Title/Abstract] AND PCSK5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

HgeneDLG1

GO:0007015

actin filament organization

14699157

HgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

HgeneDLG1

GO:0042391

regulation of membrane potential

12970345

HgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

HgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

HgeneDLG1

GO:0098609

cell-cell adhesion

14699157

HgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345

TgenePCSK5

GO:0006465

signal peptide processing

16912035

TgenePCSK5

GO:0016485

protein processing

8901832|15606899

TgenePCSK5

GO:0016486

peptide hormone processing

8901832

TgenePCSK5

GO:0043043

peptide biosynthetic process

8901832


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
TCGARVSTADTCGA-BR-8060-01ADLG1chr3

196921296

-PCSK5chr9

78936338

+
* 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
Frame-shiftENST00000357674ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000357674ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000357674ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000314062ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000314062ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000314062ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000346964ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000346964ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000346964ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000419354ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000419354ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000419354ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-3CDSENST00000452595ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000452595ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000452595ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000422288ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000422288ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000422288ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000448528ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000448528ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000448528ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-3CDSENST00000443183ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000443183ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000443183ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000450955ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000450955ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000450955ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
Frame-shiftENST00000392382ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000392382ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
5CDS-intronENST00000392382ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-3CDSENST00000485409ENST00000545128DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000485409ENST00000376767DLG1chr3

196921296

-PCSK5chr9

78936338

+
intron-intronENST00000485409ENST00000376752DLG1chr3

196921296

-PCSK5chr9

78936338

+

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FusionProtFeatures for DLG1_PCSK5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DLG1

Q12959

PCSK5

Q92824

Serine endoprotease that processes various proproteinsby cleavage at paired basic amino acids, recognizing the RXXX[KR]Rconsensus motif. Likely functions in the constitutive andregulated secretory pathways. Plays an essential role in pregnancyestablishment by proteolytic activation of a number of importantfactors such as BMP2, CALD1 and alpha-integrins.{ECO:0000269|PubMed:19764806, ECO:0000269|PubMed:20555025,ECO:0000269|PubMed:22740495}.

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 DLG1_PCSK5


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 DLG1_PCSK5


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
DLG1KCNA4, ADAM17, KCNJ12, KCNJ4, GPR124, CASK, LIN7A, LIN7C, APBA1, KCNA5, GRIN2A, CAMK2A, GRIA1, BTRC, ACTN2, CACNG2, GRIN2B, EPB41, ATP2B4, CRIPT, DLGAP1, KCNJ6, GRIK2, TJAP1, LRRC1, ERBB4, ATP2B2, EZR, KIF13B, CTNNA1, KCNJ2, GUCY1A2, LCK, KCNA3, MARCH2, AMOT, UBE3A, NET1, KHDRBS1, KCNC1, MAP1A, BAI1, HUWE1, ADAM10, NTRK1, TMEM17, DLG3, KIF26B, MAPK12, PARK2, CDH1, TGFA, PTPRE, PTEN, MPP2, EFNB3, GJB7, PRDM1, GPRC5B, WWC1PCSK5APPBP2, CACNA1A, ATN1, KRTAP5-9, MEOX2, STK16, GLRX3, NUFIP2, KRTAP4-12, LCE3C, KRTAP10-7, KRTAP10-8, KRTAP10-3, NOTCH2NL, PLAUR, PTPRK, NAAA, GPHA2, PLA2G10, LYPD1, PRG3, INSL5, LYPD4, CELA3A, SLAMF1, PRG2


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 DLG1_PCSK5


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 DLG1_PCSK5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLG1C0036341Schizophrenia3CTD_human
HgeneDLG1C0008925Cleft Palate1CTD_human
TgenePCSK5C0003466Anus, Imperforate1CTD_human
TgenePCSK5C0005941Bone Diseases, Developmental1CTD_human
TgenePCSK5C0018816Heart Septal Defects1CTD_human
TgenePCSK5C0018818Ventricular Septal Defects1CTD_human
TgenePCSK5C0022360Jaw Abnormalities1CTD_human
TgenePCSK5C0022658Kidney Diseases1CTD_human
TgenePCSK5C0024115Lung diseases1CTD_human
TgenePCSK5C0026633Mouth Abnormalities1CTD_human
TgenePCSK5C0040588Tracheoesophageal Fistula1CTD_human
TgenePCSK5C0220708VATER Association1CTD_human
TgenePCSK5C0431943Lower Extremity Deformities, Congenital1CTD_human
TgenePCSK5C1306503Congenital exomphalos1CTD_human
TgenePCSK5C1531773Currarino triad1CTD_human
TgenePCSK5C1838568Sacral defect and anterior sacral meningocele1CTD_human