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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: 9223

FusionGeneSummary for DAAM1_PRKCH

check button Fusion gene summary
Fusion gene informationFusion gene name: DAAM1_PRKCH
Fusion gene ID: 9223
HgeneTgene
Gene symbol

DAAM1

PRKCH

Gene ID

23002

5583

Gene namedishevelled associated activator of morphogenesis 1protein kinase C eta
Synonyms-PKC-L|PKCL|PRKCL|nPKC-eta
Cytomap

14q23.1

14q23.1

Type of geneprotein-codingprotein-coding
Descriptiondisheveled-associated activator of morphogenesis 1protein kinase C eta type
Modification date2018051920180523
UniProtAcc

Q9Y4D1

P24723

Ensembl transtripts involved in fusion geneENST00000360909, ENST00000351081, 
ENST00000395125, ENST00000556135, 
ENST00000553966, 
ENST00000332981, 
ENST00000555082, ENST00000556245, 
Fusion gene scores* DoF score8 X 7 X 5=2809 X 7 X 8=504
# samples 1014
** MAII scorelog2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/504*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAAM1 [Title/Abstract] AND PRKCH [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

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
TCGARVSKCMTCGA-D3-A8GM-06ADAAM1chr14

59758024

+PRKCHchr14

61995793

+
* 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-shitENST00000360909ENST00000332981DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000360909ENST00000555082DAAM1chr14

59758024

+PRKCHchr14

61995793

+
5CDS-intronENST00000360909ENST00000556245DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000351081ENST00000332981DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000351081ENST00000555082DAAM1chr14

59758024

+PRKCHchr14

61995793

+
5CDS-intronENST00000351081ENST00000556245DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000395125ENST00000332981DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000395125ENST00000555082DAAM1chr14

59758024

+PRKCHchr14

61995793

+
5CDS-intronENST00000395125ENST00000556245DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000556135ENST00000332981DAAM1chr14

59758024

+PRKCHchr14

61995793

+
Frame-shitENST00000556135ENST00000555082DAAM1chr14

59758024

+PRKCHchr14

61995793

+
5CDS-intronENST00000556135ENST00000556245DAAM1chr14

59758024

+PRKCHchr14

61995793

+
intron-3CDSENST00000553966ENST00000332981DAAM1chr14

59758024

+PRKCHchr14

61995793

+
intron-3CDSENST00000553966ENST00000555082DAAM1chr14

59758024

+PRKCHchr14

61995793

+
intron-intronENST00000553966ENST00000556245DAAM1chr14

59758024

+PRKCHchr14

61995793

+

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FusionProtFeatures for DAAM1_PRKCH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DAAM1

Q9Y4D1

PRKCH

P24723

Binds to disheveled (Dvl) and Rho, and mediates Wnt-induced Dvl-Rho complex formation. May play a role as ascaffolding protein to recruit Rho-GDP and Rho-GEF, therebyenhancing Rho-GTP formation. Can direct nucleation and elongationof new actin filaments. Involved in building functional cilia(PubMed:16630611, PubMed:17482208). Involved in the organizationof the subapical actin network in multiciliated epithelial cells(By similarity). Together with DAAM2, required for myocardialmaturation and sarcomere assembly (By similarity).{ECO:0000250|UniProtKB:B0DOB5, ECO:0000250|UniProtKB:Q8BPM0,ECO:0000269|PubMed:16630611, ECO:0000269|PubMed:17482208}. Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that is involvedin the regulation of cell differentiation in keratinocytes andpre-B cell receptor, mediates regulation of epithelial tightjunction integrity and foam cell formation, and is required forglioblastoma proliferation and apoptosis prevention in MCF-7cells. In keratinocytes, binds and activates the tyrosine kinaseFYN, which in turn blocks epidermal growth factor receptor (EGFR)signaling and leads to keratinocyte growth arrest anddifferentiation. Associates with the cyclin CCNE1-CDK2-CDKN1Bcomplex and inhibits CDK2 kinase activity, leading to RB1dephosphorylation and thereby G1 arrest in keratinocytes. Inassociation with RALA activates actin depolymerization, which isnecessary for keratinocyte differentiation. In the pre-B cellreceptor signaling, functions downstream of BLNK by up-regulatingIRF4, which in turn activates L chain gene rearrangement.Regulates epithelial tight junctions (TJs) by phosphorylatingoccludin (OCLN) on threonine residues, which is necessary for theassembly and maintenance of TJs. In association with PLD2 and viaTLR4 signaling, is involved in lipopolysaccharide (LPS)-inducedRGS2 down-regulation and foam cell formation. Upon PMAstimulation, mediates glioblastoma cell proliferation byactivating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection ofglioblastoma cells from irradiation-induced apoptosis bypreventing caspase-9 activation. In camptothecin-treated MCF-7cells, regulates NF-kappa-B upstream signaling by activatingIKBKB, and confers protection against DNA damage-inducedapoptosis. Promotes oncogenic functions of ATF2 in the nucleuswhile blocking its apoptotic function at mitochondria.Phosphorylates ATF2 which promotes its nuclear retention andtranscriptional activity and negatively regulates itsmitochondrial localization. {ECO:0000269|PubMed:10806212,ECO:0000269|PubMed:11112424, ECO:0000269|PubMed:11772428,ECO:0000269|PubMed:15489897, ECO:0000269|PubMed:17146445,ECO:0000269|PubMed:18780722, ECO:0000269|PubMed:19114660,ECO:0000269|PubMed:20558593, ECO:0000269|PubMed:21820409,ECO:0000269|PubMed:22304920}.

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 DAAM1_PRKCH


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 DAAM1_PRKCH


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
DAAM1MAP3K7, PRPF40A, B3GALT4, AMBP, RHOD, GPN3, GNAZ, TMEM185A, PIFO, RHOA, CDH1, RHOC, FBXL16, SERHL2, RANBP6, FBXL14, TUBA4A, ARMC6, TUBB, SLC37A3, CHEK2, CHEK1PRKCHCDK2, ZBTB8OS, MGMT, NFE2L2, PRKCH, VHL, PPP1R14A, HSP90AA1, GSK3A, BANP, AKAP13, PRKCA


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 DAAM1_PRKCH


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 DAAM1_PRKCH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKCHC0028754Obesity1CTD_human
TgenePRKCHC0236969Substance-Related Disorders1CTD_human