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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: 5344

FusionGeneSummary for CAMK1D_FRMD4A

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMK1D_FRMD4A
Fusion gene ID: 5344
HgeneTgene
Gene symbol

CAMK1D

FRMD4A

Gene ID

57118

55691

Gene namecalcium/calmodulin dependent protein kinase IDFERM domain containing 4A
SynonymsCKLiK|CaM-K1|CaMKIDCCAFCA|FRMD4|bA295P9.4
Cytomap

10p13

10p13

Type of geneprotein-codingprotein-coding
Descriptioncalcium/calmodulin-dependent protein kinase type 1DCAMK1D/ANAPC5 fusionCaM kinase IDCamKI-like protein kinasecaM kinase I deltacaM-KI deltacaMKI deltaFERM domain-containing protein 4AFERM domain containing 4
Modification date2018052320180519
UniProtAcc

Q8IU85

Q9P2Q2

Ensembl transtripts involved in fusion geneENST00000378847, ENST00000487696, 
ENST00000378845, 
ENST00000358621, 
ENST00000357447, ENST00000378503, 
ENST00000342409, ENST00000493380, 
ENST00000475141, ENST00000492155, 
Fusion gene scores* DoF score10 X 10 X 6=6009 X 7 X 6=378
# samples 1410
** MAII scorelog2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/378*10)=-1.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAMK1D [Title/Abstract] AND FRMD4A [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
TCGALDLUADTCGA-86-8358-01ACAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
* 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-shitENST00000378847ENST00000358621CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378847ENST00000357447CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378847ENST00000378503CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378847ENST00000342409CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378847ENST00000493380CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378847ENST00000475141CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378847ENST00000492155CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-3CDSENST00000487696ENST00000358621CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-3CDSENST00000487696ENST00000357447CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-3CDSENST00000487696ENST00000378503CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-3CDSENST00000487696ENST00000342409CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-intronENST00000487696ENST00000493380CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-intronENST00000487696ENST00000475141CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
3UTR-intronENST00000487696ENST00000492155CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378845ENST00000358621CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378845ENST00000357447CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378845ENST00000378503CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
Frame-shitENST00000378845ENST00000342409CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378845ENST00000493380CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378845ENST00000475141CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-
5CDS-intronENST00000378845ENST00000492155CAMK1Dchr10

12708809

+FRMD4Achr10

13900912

-

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FusionProtFeatures for CAMK1D_FRMD4A


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

Q8IU85

FRMD4A

Q9P2Q2

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}. Scaffolding protein that regulates epithelial cellpolarity by connecting ARF6 activation with the PAR3 complex (Bysimilarity). Plays a redundant role with FRMD4B in epithelialpolarization (By similarity). May regulate MAPT secretion byactivating ARF6-signaling (PubMed:27044754).{ECO:0000250|UniProtKB:Q8BIE6, ECO:0000269|PubMed:27044754}.

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_FRMD4A


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_FRMD4A


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
CAMK1DNEDD4, NEDD4L, POT1, APP, BAG3, TNFSF13, ASAH1, CDC25A, CUL3, GMFG, BNIP3L, DCPS, HSPA1L, NAE1, NUCB2, PCYT2, TUBB6, TUFM, UBA3, XPO1, CAMK1, CAMK1G, ZG16B, QPCTL, MUC7, AMY1C, CKS2, CST4, XYLT2, CDH1, LAMP3, CST1, C9orf173, GNRHR, CALM3FRMD4AHNRNPA1, TRAF3IP1, YEATS4, WDR83


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_FRMD4A


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_FRMD4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFRMD4AC0236969Substance-Related Disorders1CTD_human