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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: 5346

FusionGeneSummary for CAMK1D_PDLIM5

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMK1D_PDLIM5
Fusion gene ID: 5346
HgeneTgene
Gene symbol

CAMK1D

PDLIM5

Gene ID

57118

10611

Gene namecalcium/calmodulin dependent protein kinase IDPDZ and LIM domain 5
SynonymsCKLiK|CaM-K1|CaMKIDENH|ENH1|L9|LIM
Cytomap

10p13

4q22.3

Type of geneprotein-codingprotein-coding
Descriptioncalcium/calmodulin-dependent protein kinase type 1DCAMK1D/ANAPC5 fusionCaM kinase IDCamKI-like protein kinasecaM kinase I deltacaM-KI deltacaMKI deltaPDZ and LIM domain protein 5enigma homologenigma-like LIM domain proteinenigma-like PDZ and LIM domains protein
Modification date2018052320180522
UniProtAcc

Q8IU85

Q96HC4

Ensembl transtripts involved in fusion geneENST00000378847, ENST00000487696, 
ENST00000378845, 		ENST00000450793, 
ENST00000538141, ENST00000380180, 
ENST00000318007, ENST00000437932, 
ENST00000317968, ENST00000542407, 
ENST00000508216, ENST00000514743, 
ENST00000380176, ENST00000359265, 
ENST00000512274, ENST00000504489, 
Fusion gene scores* DoF score10 X 10 X 6=6009 X 12 X 5=540
# samples 1412
** MAII scorelog2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAMK1D [Title/Abstract] AND PDLIM5 [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
HgeneCAMK1D

GO:0032793

positive regulation of CREB transcription factor activity

16324104


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
ChiTaRS3.1CV321930CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
* 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-intronENST00000378847ENST00000450793CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000538141CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000380180CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000318007CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000437932CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000317968CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000542407CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000508216CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000514743CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000380176CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000359265CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000512274CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378847ENST00000504489CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000450793CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000538141CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000380180CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000318007CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000437932CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000317968CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000542407CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000508216CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000514743CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000380176CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000359265CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000512274CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000487696ENST00000504489CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000450793CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000538141CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000380180CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000318007CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000437932CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000317968CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000542407CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000508216CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000514743CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000380176CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000359265CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000512274CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+
intron-intronENST00000378845ENST00000504489CAMK1Dchr10

12699864

+PDLIM5chr4

95388729

+

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FusionProtFeatures for CAMK1D_PDLIM5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAMK1D

Q8IU85

PDLIM5

Q96HC4

Calcium/calmodulin-dependent protein kinase thatoperates in the calcium-triggered CaMKK-CaMK1 signaling cascadeand, upon calcium influx, activates CREB-dependent genetranscription, regulates calcium-mediated granulocyte function andrespiratory burst and promotes basal dendritic growth ofhippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratoryburst. Activates the transcription factor CREB1 in hippocampalneuron nuclei. May play a role in apoptosis of erythroleukemiacells. In vitro, phosphorylates transcription factor CREM isoformBeta. {ECO:0000269|PubMed:11050006, ECO:0000269|PubMed:15840691,ECO:0000269|PubMed:16324104, ECO:0000269|PubMed:17056143}. May play an important role in the heart development byscaffolding PKC to the Z-disk region. May play a role in theregulation of cardiomyocyte expansion. Overexpression promotes thedevelopment of heart hypertrophy. Contributes to the regulation ofdendritic spine morphogenesis in neurons. May restrainpostsynaptic growth of excitatory synapses (By similarity).{ECO:0000250}.

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 CAMK1D_PDLIM5


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 CAMK1D_PDLIM5


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 CAMK1D_PDLIM5


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 CAMK1D_PDLIM5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDLIM5C0005586Bipolar Disorder5PSYGENET
TgenePDLIM5C0036341Schizophrenia4PSYGENET
TgenePDLIM5C0041696Unipolar Depression4PSYGENET
TgenePDLIM5C1269683Major Depressive Disorder4PSYGENET
TgenePDLIM5C0151744Myocardial Ischemia1CTD_human
TgenePDLIM5C0221765Chronic schizophrenia1PSYGENET