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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: 19272

FusionGeneSummary for KRT5_PPP6R3

check button Fusion gene summary
Fusion gene informationFusion gene name: KRT5_PPP6R3
Fusion gene ID: 19272
HgeneTgene
Gene symbol

KRT5

PPP6R3

Gene ID

3852

55291

Gene namekeratin 5protein phosphatase 6 regulatory subunit 3
SynonymsCK5|DDD|DDD1|EBS2|K5|KRT5AC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3
Cytomap

12q13.13

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionkeratin, type II cytoskeletal 558 kda cytokeratinCK-5cytokeratin-5epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne typeskeratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)keratin 5, type IItype-IIserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPL
Modification date2018051920180520
UniProtAcc

P13647

Q5H9R7

Ensembl transtripts involved in fusion geneENST00000252242, ENST00000393799, 
ENST00000530427, ENST00000393800, 
ENST00000534534, ENST00000524845, 
ENST00000265637, ENST00000524904, 
ENST00000393801, ENST00000265636, 
ENST00000529710, ENST00000527403, 
Fusion gene scores* DoF score12 X 10 X 3=36015 X 15 X 6=1350
# samples 1519
** MAII scorelog2(15/360*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KRT5 [Title/Abstract] AND PPP6R3 [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
TgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191


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
ChiTaRS3.1BI016103KRT5chr12

52908785

+PPP6R3chr11

68291042

+
* 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-intronENST00000252242ENST00000393799KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000530427KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000393800KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000534534KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000524845KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000265637KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000524904KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000393801KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000265636KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000529710KRT5chr12

52908785

+PPP6R3chr11

68291042

+
intron-intronENST00000252242ENST00000527403KRT5chr12

52908785

+PPP6R3chr11

68291042

+

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FusionProtFeatures for KRT5_PPP6R3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KRT5

P13647

PPP6R3

Q5H9R7


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 KRT5_PPP6R3


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 KRT5_PPP6R3


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 KRT5_PPP6R3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKRT5P13647DB01593ZincKeratin, type II cytoskeletal 5small moleculeapproved|investigational

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RelatedDiseases for KRT5_PPP6R3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKRT5C0080333Weber-Cockayne Syndrome15ORPHANET;UNIPROT
HgeneKRT5C0079295Epidermolysis Bullosa Herpetiformis Dowling-Meara11ORPHANET;UNIPROT
HgeneKRT5C0079299Epidermolysis Bullosa Simplex Kobner8ORPHANET;UNIPROT
HgeneKRT5C0432316Epidermolysis bullosa simplex with mottled pigmentation4CTD_human;ORPHANET;UNIPROT
HgeneKRT5C0007117Basal cell carcinoma2CTD_human
HgeneKRT5C0007621Neoplastic Cell Transformation1CTD_human
HgeneKRT5C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKRT5C0024667Animal Mammary Neoplasms1CTD_human
HgeneKRT5C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneKRT5C0036095Salivary Gland Neoplasms1CTD_human
HgeneKRT5C1458155Mammary Neoplasms1CTD_human