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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: 26303

FusionGeneSummary for PCSK5_DENND1A

check button Fusion gene summary
Fusion gene informationFusion gene name: PCSK5_DENND1A
Fusion gene ID: 26303
HgeneTgene
Gene symbol

PCSK5

DENND1A

Gene ID

5125

57706

Gene nameproprotein convertase subtilisin/kexin type 5DENN domain containing 1A
SynonymsPC5|PC6|PC6A|SPC6FAM31A|KIAA1608
Cytomap

9q21.13

9q33.3

Type of geneprotein-codingprotein-coding
Descriptionproprotein convertase subtilisin/kexin type 5prohormone convertase 5proprotein convertase 6protease PC6subtilasesubtilisin/kexin-like protease PC5DENN domain-containing protein 1ADENN/MADD domain containing 1Aconnecdenn 1
Modification date2018052220180523
UniProtAcc

Q92824

Q8TEH3

Ensembl transtripts involved in fusion geneENST00000545128, ENST00000376767, 
ENST00000376752, 
ENST00000473039, 
ENST00000373624, ENST00000542603, 
ENST00000394219, ENST00000373620, 
ENST00000394215, ENST00000373618, 
Fusion gene scores* DoF score5 X 4 X 4=8011 X 9 X 8=792
# samples 514
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/792*10)=-2.50007360313464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCSK5 [Title/Abstract] AND DENND1A [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
HgenePCSK5

GO:0006465

signal peptide processing

16912035

HgenePCSK5

GO:0016485

protein processing

8901832|15606899

HgenePCSK5

GO:0016486

peptide hormone processing

8901832

HgenePCSK5

GO:0043043

peptide biosynthetic process

8901832

TgeneDENND1A

GO:0032483

regulation of Rab protein signal transduction

20937701


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
TCGARVSARCTCGA-3B-A9HS-01APCSK5chr9

78641953

+DENND1Achr9

126641300

-
* 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-intronENST00000545128ENST00000473039PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000545128ENST00000373624PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000545128ENST00000542603PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000545128ENST00000394219PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000545128ENST00000373620PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000545128ENST00000394215PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000545128ENST00000373618PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376767ENST00000473039PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376767ENST00000373624PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376767ENST00000542603PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376767ENST00000394219PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376767ENST00000373620PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000376767ENST00000394215PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000376767ENST00000373618PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376752ENST00000473039PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376752ENST00000373624PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376752ENST00000542603PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376752ENST00000394219PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-intronENST00000376752ENST00000373620PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000376752ENST00000394215PCSK5chr9

78641953

+DENND1Achr9

126641300

-
5CDS-5UTRENST00000376752ENST00000373618PCSK5chr9

78641953

+DENND1Achr9

126641300

-

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FusionProtFeatures for PCSK5_DENND1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCSK5

Q92824

DENND1A

Q8TEH3

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 PCSK5_DENND1A


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 PCSK5_DENND1A


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
PCSK5APPBP2, 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, PRG2DENND1AYWHAB, XPO1, CLTB, CLTC, GAK, PICALM, ANAPC15, LIMA1, GTSE1, ATL2, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, RTKN, CGN, MAST3, DENND4C, MAGI1, TESK2, DCLK1, PPM1H, ZNF638, SRSF12, MAPKAP1, SYDE1, AGAP1, CDC25B, CDK16, HDAC4, FAM110B, USP21, NF1, ANKRD34A, LPIN3, FAM53C, CBY1, NADK, FAM110A, CDC25C, TIAM1, KIAA1804, CAMSAP2, RASAL2, PHLDB2, GIGYF2, SH3RF3, PLEKHA7, MELK, KIF1C, GAB2, TBC1D25, NAV1, TANC2, DENND4A, PTPN13, RPTOR, RALGPS2, PTPN14, DEPDC1B, STARD13, OSBPL6, HDAC7, MLLT4, LARP1, PLEKHA5, EDC3, RAB11FIP2, SH3BP4, CHEK1, KIF1B, INPP5E


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 PCSK5_DENND1A


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 PCSK5_DENND1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCSK5C0003466Anus, Imperforate1CTD_human
HgenePCSK5C0005941Bone Diseases, Developmental1CTD_human
HgenePCSK5C0018816Heart Septal Defects1CTD_human
HgenePCSK5C0018818Ventricular Septal Defects1CTD_human
HgenePCSK5C0022360Jaw Abnormalities1CTD_human
HgenePCSK5C0022658Kidney Diseases1CTD_human
HgenePCSK5C0024115Lung diseases1CTD_human
HgenePCSK5C0026633Mouth Abnormalities1CTD_human
HgenePCSK5C0040588Tracheoesophageal Fistula1CTD_human
HgenePCSK5C0220708VATER Association1CTD_human
HgenePCSK5C0431943Lower Extremity Deformities, Congenital1CTD_human
HgenePCSK5C1306503Congenital exomphalos1CTD_human
HgenePCSK5C1531773Currarino triad1CTD_human
HgenePCSK5C1838568Sacral defect and anterior sacral meningocele1CTD_human