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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CDKN1A-GAPDH (FusionGDB2 ID:HG1026TG2597)

Fusion Gene Summary for CDKN1A-GAPDH

check button Fusion gene summary
Fusion gene informationFusion gene name: CDKN1A-GAPDH
Fusion gene ID: hg1026tg2597
HgeneTgene
Gene symbol

CDKN1A

GAPDH

Gene ID

1026

2597

Gene namecyclin dependent kinase inhibitor 1Aglyceraldehyde-3-phosphate dehydrogenase
SynonymsCAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1G3PD|GAPD|HEL-S-162eP
Cytomap('CDKN1A')('GAPDH')

6p21.2

12p13.31

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 1glyceraldehyde-3-phosphate dehydrogenaseOCAS, p38 componentOct1 coactivator in S phase, 38 Kd componentaging-associated gene 9 proteinepididymis secretory sperm binding protein Li 162ePpeptidyl-cysteine S-nitrosylase GAPDH
Modification date2020032920200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000244741, ENST00000405375, 
ENST00000373711, ENST00000448526, 
ENST00000478800, 
Fusion gene scores* DoF score6 X 7 X 3=12627 X 29 X 8=6264
# samples 731
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(31/6264*10)=-4.3367440920168
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDKN1A [Title/Abstract] AND GAPDH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDKN1A(36654550)-GAPDH(6643705), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

TgeneGAPDH

GO:0010951

negative regulation of endopeptidase activity

22832495

TgeneGAPDH

GO:0017148

negative regulation of translation

23071094

TgeneGAPDH

GO:0031640

killing of cells of other organism

22832495

TgeneGAPDH

GO:0050715

positive regulation of cytokine secretion

22832495

TgeneGAPDH

GO:0050832

defense response to fungus

22832495

TgeneGAPDH

GO:0051873

killing by host of symbiont cells

22832495

TgeneGAPDH

GO:0052501

positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction

22832495

TgeneGAPDH

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

22832495

TgeneGAPDH

GO:0071346

cellular response to interferon-gamma

15479637



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for CDKN1A-GAPDH

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CDKN1A-GAPDH


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CDKN1A-GAPDH


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:36654550/:6643705)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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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Fusion Gene Sequence for CDKN1A-GAPDH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CDKN1A-GAPDH


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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Related Drugs for CDKN1A-GAPDH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CDKN1A-GAPDH


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
HgeneCDKN1AC0242379Malignant neoplasm of lung2CTD_human
HgeneCDKN1AC0346627Intestinal Cancer2CTD_human
HgeneCDKN1AC0376358Malignant neoplasm of prostate2CTD_human
HgeneCDKN1AC0004238Atrial Fibrillation1CTD_human
HgeneCDKN1AC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneCDKN1AC0005695Bladder Neoplasm1CTD_human
HgeneCDKN1AC0007102Malignant tumor of colon1CTD_human
HgeneCDKN1AC0009375Colonic Neoplasms1CTD_human
HgeneCDKN1AC0011881Diabetic Nephropathy1CTD_human
HgeneCDKN1AC0017667Nodular glomerulosclerosis1CTD_human
HgeneCDKN1AC0019693HIV Infections1CTD_human
HgeneCDKN1AC0020564Hypertrophy1CTD_human
HgeneCDKN1AC0022658Kidney Diseases1CTD_human
HgeneCDKN1AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCDKN1AC0024623Malignant neoplasm of stomach1CTD_human
HgeneCDKN1AC0025267Multiple Endocrine Neoplasia Type 11ORPHANET
HgeneCDKN1AC0030354Papilloma1CTD_human
HgeneCDKN1AC0035126Reperfusion Injury1CTD_human
HgeneCDKN1AC0038356Stomach Neoplasms1CTD_human
HgeneCDKN1AC0205874Papilloma, Squamous Cell1CTD_human
HgeneCDKN1AC0205875Papillomatosis1CTD_human
HgeneCDKN1AC0235480Paroxysmal atrial fibrillation1CTD_human
HgeneCDKN1AC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCDKN1AC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCDKN1AC0345967Malignant mesothelioma1CTD_human
HgeneCDKN1AC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCDKN1AC2585653Persistent atrial fibrillation1CTD_human
HgeneCDKN1AC3468561familial atrial fibrillation1CTD_human
HgeneCDKN1AC4505456HIV Coinfection1CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0242184Hypoxia1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human