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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: 6629

FusionGeneSummary for CDKN1A_CDKN1A

check button Fusion gene summary
Fusion gene informationFusion gene name: CDKN1A_CDKN1A
Fusion gene ID: 6629
HgeneTgene
Gene symbol

CDKN1A

CDKN1A

Gene ID

1026

1026

Gene namecyclin dependent kinase inhibitor 1Acyclin dependent kinase inhibitor 1A
SynonymsCAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1
Cytomap

6p21.2

6p21.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase inhibitor 1CDK-interacting protein 1CDK-interaction protein 1DNA synthesis inhibitorcyclin-dependent kinase inhibitor 1A (p21, Cip1)melanoma differentiation associated protein 6wild-type p53-activated fragment 1cyclin-dependent kinase inhibitor 1CDK-interacting protein 1CDK-interaction protein 1DNA synthesis inhibitorcyclin-dependent kinase inhibitor 1A (p21, Cip1)melanoma differentiation associated protein 6wild-type p53-activated fragment 1
Modification date2018052720180527
UniProtAcc

P38936

P38936

Ensembl transtripts involved in fusion geneENST00000448526, ENST00000244741, 
ENST00000405375, ENST00000373711, 
ENST00000478800, 		ENST00000448526, 
ENST00000244741, ENST00000405375, 
ENST00000373711, ENST00000478800, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 3 X 1=6
# samples 53
** MAII scorelog2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/6*10)=2.32192809488736
Context

PubMed: CDKN1A [Title/Abstract] AND CDKN1A [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
HgeneCDKN1A

GO:0000082

G1/S transition of mitotic cell cycle

10208428

HgeneCDKN1A

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

15149599

HgeneCDKN1A

GO:0007050

cell cycle arrest

15149599

HgeneCDKN1A

GO:0008285

negative regulation of cell proliferation

10208428|15149599

HgeneCDKN1A

GO:0030308

negative regulation of cell growth

10208428

HgeneCDKN1A

GO:0042326

negative regulation of phosphorylation

10208428

HgeneCDKN1A

GO:0045860

positive regulation of protein kinase activity

22869755

TgeneCDKN1A

GO:0000082

G1/S transition of mitotic cell cycle

10208428

TgeneCDKN1A

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

15149599

TgeneCDKN1A

GO:0007050

cell cycle arrest

15149599

TgeneCDKN1A

GO:0008285

negative regulation of cell proliferation

10208428|15149599

TgeneCDKN1A

GO:0030308

negative regulation of cell growth

10208428

TgeneCDKN1A

GO:0042326

negative regulation of phosphorylation

10208428

TgeneCDKN1A

GO:0045860

positive regulation of protein kinase activity

22869755


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
ChiTaRS3.1CN481397CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
ChiTaRS3.1BI870543CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
* 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-3UTRENST00000448526ENST00000448526CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000448526ENST00000244741CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000448526ENST00000405375CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000448526ENST00000373711CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000448526ENST00000478800CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000244741ENST00000448526CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000244741ENST00000244741CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000244741ENST00000405375CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-intronENST00000244741ENST00000373711CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-intronENST00000244741ENST00000478800CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000405375ENST00000448526CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000405375ENST00000244741CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-3UTRENST00000405375ENST00000405375CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-intronENST00000405375ENST00000373711CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
3UTR-intronENST00000405375ENST00000478800CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000373711ENST00000448526CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000373711ENST00000244741CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000373711ENST00000405375CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000373711ENST00000373711CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000373711ENST00000478800CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000478800ENST00000448526CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000478800ENST00000244741CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-3UTRENST00000478800ENST00000405375CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000478800ENST00000373711CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000478800ENST00000478800CDKN1Achr6

36654614

+CDKN1Achr6

36653723

+
intron-intronENST00000448526ENST00000448526CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000448526ENST00000244741CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000448526ENST00000405375CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000448526ENST00000373711CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000448526ENST00000478800CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000244741ENST00000448526CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-3UTRENST00000244741ENST00000244741CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-3UTRENST00000244741ENST00000405375CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000244741ENST00000373711CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000244741ENST00000478800CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000405375ENST00000448526CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-3UTRENST00000405375ENST00000244741CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-3UTRENST00000405375ENST00000405375CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000405375ENST00000373711CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
3UTR-intronENST00000405375ENST00000478800CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000373711ENST00000448526CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000373711ENST00000244741CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000373711ENST00000405375CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000373711ENST00000373711CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000373711ENST00000478800CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000478800ENST00000448526CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000478800ENST00000244741CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-3UTRENST00000478800ENST00000405375CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000478800ENST00000373711CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+
intron-intronENST00000478800ENST00000478800CDKN1Achr6

36654770

-CDKN1Achr6

36654797

+

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FusionProtFeatures for CDKN1A_CDKN1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDKN1A

P38936

CDKN1A

P38936

May be involved in p53/TP53 mediated inhibition ofcellular proliferation in response to DNA damage. Binds to andinhibits cyclin-dependent kinase activity, preventingphosphorylation of critical cyclin-dependent kinase substrates andblocking cell cycle progression. Functions in the nuclearlocalization and assembly of cyclin D-CDK4 complex and promotesits kinase activity towards RB1. At higher stoichiometric ratios,inhibits the kinase activity of the cyclin D-CDK4 complex.Inhibits DNA synthesis by DNA polymerase delta by competing withPOLD3 for PCNA binding (PubMed:11595739).{ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:8242751,ECO:0000269|PubMed:9106657}. May be involved in p53/TP53 mediated inhibition ofcellular proliferation in response to DNA damage. Binds to andinhibits cyclin-dependent kinase activity, preventingphosphorylation of critical cyclin-dependent kinase substrates andblocking cell cycle progression. Functions in the nuclearlocalization and assembly of cyclin D-CDK4 complex and promotesits kinase activity towards RB1. At higher stoichiometric ratios,inhibits the kinase activity of the cyclin D-CDK4 complex.Inhibits DNA synthesis by DNA polymerase delta by competing withPOLD3 for PCNA binding (PubMed:11595739).{ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:8242751,ECO:0000269|PubMed:9106657}.

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 CDKN1A_CDKN1A


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 CDKN1A_CDKN1A


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 CDKN1A_CDKN1A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCDKN1AP38936DB01169Arsenic trioxideCyclin-dependent kinase inhibitor 1small moleculeapproved|investigational
TgeneCDKN1AP38936DB01169Arsenic trioxideCyclin-dependent kinase inhibitor 1small moleculeapproved|investigational

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RelatedDiseases for CDKN1A_CDKN1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDKN1AC0007138Carcinoma, Transitional Cell2CTD_human
HgeneCDKN1AC0021841Intestinal Neoplasms2CTD_human
HgeneCDKN1AC0024121Lung Neoplasms2CTD_human
HgeneCDKN1AC0033578Prostatic Neoplasms2CTD_human
HgeneCDKN1AC0005695Bladder Neoplasm1CTD_human
HgeneCDKN1AC0009375Colonic Neoplasms1CTD_human
HgeneCDKN1AC0019693HIV Infections1CTD_human
HgeneCDKN1AC0022658Kidney Diseases1CTD_human
HgeneCDKN1AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCDKN1AC0030354Papilloma1CTD_human
HgeneCDKN1AC0035126Reperfusion Injury1CTD_human
HgeneCDKN1AC0038356Stomach Neoplasms1CTD_human
HgeneCDKN1AC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCDKN1AC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCDKN1AC0345967Malignant mesothelioma1CTD_human
TgeneCDKN1AC0007138Carcinoma, Transitional Cell2CTD_human
TgeneCDKN1AC0021841Intestinal Neoplasms2CTD_human
TgeneCDKN1AC0024121Lung Neoplasms2CTD_human
TgeneCDKN1AC0033578Prostatic Neoplasms2CTD_human
TgeneCDKN1AC0005695Bladder Neoplasm1CTD_human
TgeneCDKN1AC0009375Colonic Neoplasms1CTD_human
TgeneCDKN1AC0019693HIV Infections1CTD_human
TgeneCDKN1AC0022658Kidney Diseases1CTD_human
TgeneCDKN1AC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCDKN1AC0030354Papilloma1CTD_human
TgeneCDKN1AC0035126Reperfusion Injury1CTD_human
TgeneCDKN1AC0038356Stomach Neoplasms1CTD_human
TgeneCDKN1AC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneCDKN1AC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneCDKN1AC0345967Malignant mesothelioma1CTD_human