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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: 6614

FusionGeneSummary for CDKAL1_PPP2R5C

check button Fusion gene summary
Fusion gene informationFusion gene name: CDKAL1_PPP2R5C
Fusion gene ID: 6614
HgeneTgene
Gene symbol

CDKAL1

PPP2R5C

Gene ID

54901

5527

Gene nameCDK5 regulatory subunit associated protein 1 like 1protein phosphatase 2 regulatory subunit B'gamma
Synonyms-B56G|B56gamma|PR61G
Cytomap

6p22.3

14q32.31

Type of geneprotein-codingprotein-coding
Descriptionthreonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferaseserine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoformB' alpha regulatory subunitPP2A B subunit isoform B'-gammaPP2A B subunit isoform B56-gammaPP2A B subunit isoform PR61-gammaPP2A B subunit isoform R5-gammaprotein phosphat
Modification date2018052320180523
UniProtAcc

Q5VV42

Q13362

Ensembl transtripts involved in fusion geneENST00000274695, ENST00000378624, 
ENST00000378610, ENST00000476517, 
ENST00000422945, ENST00000556068, 
ENST00000554442, ENST00000328724, 
ENST00000350249, ENST00000445439, 
ENST00000334743, ENST00000557095, 
ENST00000556260, ENST00000556946, 
ENST00000557714, 
Fusion gene scores* DoF score23 X 12 X 11=303610 X 9 X 8=720
# samples 2213
** MAII scorelog2(22/3036*10)=-3.78659636189081
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDKAL1 [Title/Abstract] AND PPP2R5C [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
TgenePPP2R5C

GO:0008285

negative regulation of cell proliferation

17245430


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
ChiTaRS3.1BQ717736CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
* 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-intronENST00000274695ENST00000422945CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000556068CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000554442CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000328724CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000350249CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000445439CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000334743CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000557095CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000556260CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000556946CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000274695ENST00000557714CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000422945CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000556068CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000554442CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000328724CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000350249CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000445439CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000334743CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000557095CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000556260CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000556946CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378624ENST00000557714CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000422945CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000556068CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000554442CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000328724CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000350249CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000445439CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000334743CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000557095CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000556260CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000556946CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000378610ENST00000557714CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000422945CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000556068CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000554442CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000328724CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000350249CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000445439CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000334743CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000557095CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000556260CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000556946CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+
intron-intronENST00000476517ENST00000557714CDKAL1chr6

21003468

+PPP2R5Cchr14

102391037

+

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FusionProtFeatures for CDKAL1_PPP2R5C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDKAL1

Q5VV42

PPP2R5C

Q13362

Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position37 in tRNAs that read codons beginning with adenine.{ECO:0000269|PubMed:20584901}. The B regulatory subunit might modulate substrateselectivity and catalytic activity, and also might direct thelocalization of the catalytic enzyme to a particular subcellularcompartment. The PP2A-PPP2R5C holoenzyme may specificallydephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may alsoregulate the ERK signaling pathway through ERK dephosphorylation.{ECO:0000269|PubMed:16456541, ECO:0000269|PubMed:17245430}.

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 CDKAL1_PPP2R5C


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 CDKAL1_PPP2R5C


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 CDKAL1_PPP2R5C


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 CDKAL1_PPP2R5C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDKAL1C0011860Diabetes Mellitus, Non-Insulin-Dependent3CTD_human
HgeneCDKAL1C0005910Body Weight2CTD_human
HgeneCDKAL1C0005612Birth Weight1CTD_human
TgenePPP2R5CC0023434Chronic Lymphocytic Leukemia1CTD_human
TgenePPP2R5CC1257806Chromosomal Instability1CTD_human
TgenePPP2R5CC1449861Micronuclei, Chromosome-Defective1CTD_human