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Fusion gene ID: 6630 |
FusionGeneSummary for CDKN1A_ERAS |
Fusion gene summary |
Fusion gene information | Fusion gene name: CDKN1A_ERAS | Fusion gene ID: 6630 | Hgene | Tgene | Gene symbol | CDKN1A | ERAS | Gene ID | 1026 | 3266 |
Gene name | cyclin dependent kinase inhibitor 1A | ES cell expressed Ras | |
Synonyms | CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1 | HRAS2|HRASP | |
Cytomap | 6p21.2 | Xp11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclin-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 | GTPase ERasE-Rasembryonic stem cell-expressed Rassmall GTPase protein E-Rasv-Ha-ras Harvey rat sarcoma viral oncogene homolog 2v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P38936 | Q7Z444 | |
Ensembl transtripts involved in fusion gene | ENST00000448526, ENST00000244741, ENST00000405375, ENST00000373711, ENST00000478800, | ENST00000338270, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 6 X 1 X 5=30 |
# samples | 5 | 6 | |
** MAII score | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CDKN1A [Title/Abstract] AND ERAS [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CDKN1A | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
Hgene | CDKN1A | GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 15149599 |
Hgene | CDKN1A | GO:0007050 | cell cycle arrest | 15149599 |
Hgene | CDKN1A | GO:0008285 | negative regulation of cell proliferation | 10208428|15149599 |
Hgene | CDKN1A | GO:0030308 | negative regulation of cell growth | 10208428 |
Hgene | CDKN1A | GO:0042326 | negative regulation of phosphorylation | 10208428 |
Hgene | CDKN1A | GO:0045860 | positive regulation of protein kinase activity | 22869755 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | UCEC | TCGA-B5-A3FB-01A | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000448526 | ENST00000338270 | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
5UTR-5UTR | ENST00000244741 | ENST00000338270 | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
5UTR-5UTR | ENST00000405375 | ENST00000338270 | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
5UTR-5UTR | ENST00000373711 | ENST00000338270 | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
3UTR-5UTR | ENST00000478800 | ENST00000338270 | CDKN1A | chr6 | 36646575 | + | ERAS | chrX | 48687491 | + |
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FusionProtFeatures for CDKN1A_ERAS |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CDKN1A | ERAS |
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}. | Ras proteins bind GDP/GTP and possess intrinsic GTPaseactivity. Plays an important role in the tumor-like growthproperties of embryonic stem cells (By similarity). {ECO:0000250}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CDKN1A_ERAS |
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_ERAS |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CDKN1A | TSG101, TEX11, CCND2, CCDC85B, CCND3, PCNA, GADD45A, CHEK1, CDK2, GADD45G, TP53, BCCIP, CCNA2, PARP1, CCNE1, GET4, GNB2L1, HDAC11, RAB1A, CSNK2B, HERC5, MAP3K5, CIZ1, TK1, PIM1, STAT3, CCND1, SET, PSMA3, CUL4A, DDB1, DTL, CDC20, SKP2, CDC27, CCNB1, CDK1, PSME3, HDAC1, CDK4, CDK6, MAPK8, JUN, GAPDH, MGMT, MDM2, HDAC4, HDAC6, HDAC2, E2F1, ESR1, CREBBP, RNF144B, EP300, MDM4, PSMC5, PSMD2, NCOR1, NCOR2, POLR2A, VDR, IKBKG, OPTN, NPM1, SPRED1, ATXN3, ATP6V1A, HMGXB3, CSAD, S100A8, CPNE6, GNB2, EXT2, SDF4, FLAD1, CPNE2, OTUB1, HADHB, WIZ, TAF5L, CCT7, BAG6, UBE2D1, RBM48, GDF9, DEAF1, ZBTB48, ZBTB16, TUBA1A, KLHL23, F13A1, SUMO3, VIM, PDHB, TMSB4X, DDAH2, ADAMTS10, WDR73, ALAS1, TLE1, TRMT2A, ACTB, COPS6, USP4, RPS2, CTSB, A2M, MED31, CENPB, SP110, A1BG, COL4A5, RAI1, ATP5B, DYNC1I1, EEF1A1, FBN3, NPRL2, APLP1, INPP5K, UNC119, CELF3, GNB5, MSH2, LRIF1, ANGPT2, TUBB3, CHGB, ZNF431, PDE4DIP, ACTL6B, PKM, NGFR, DOCK7, QARS, ING5, ZNF135, KMT2B, TUBB2B, FGB, RBBP4, HOXD8, CLEC3B, NRBP1, FAF1, SETDB1, NFE2L2, FKBPL, HSP90AA1, FBXO32, CDKN1B, CCNE2, BRAP, TRRAP, YWHAQ, TP63, CCNA1, RNF126, DAPK3, APP, CDK14, CUL1, VCP, NOV, CEBPA, CASP3, HIST1H1B, TRIM39, MKRN1, CDC45, CDC6, CDC7, CDC5L, CCNB2, GMNN, MCM10, CDK5, RB1, RNF114, VPS51, TNIP2, HNRNPK, TXN, RPL35, BAD, GCKR, HPD, RPL18, SIPA1, NR1H2, TNIP1, TXNDC11, NKD2, CXCL13, CDK3, HSPA5, RBL2, RAVER1, HSPA9, MOGS, USP11, TUBB, UBR4, GIGYF2, IRS4, TBC1D4, HSPA8, LRPPRC, CKS2, PUM1, UBR5, CRTC2, AMOT, ANKRD17, YTHDF1, CLINT1, CPVL, FBXO21, NCL, EIF4EBP3, HSPA2, HNRNPA2B1, MARK2, PPFIBP1, CCNO, SBF1, ABR, RPS16, SNRNP200, PRPF8, CKS1B, HSPA1A, SUPT6H, IGF2BP1, PHKA1, PPFIA1, CAMK2D, PHKG2, CEP290, RPS4X, EPPK1, PDHX, PUF60, RPS25, EFTUD2, UBB, NTN4, SNTB2, RPS9, KRT31, TCF4, TRAF1, IKZF3, TRIM54, LATS2, AKT1, AKT2, SS18, RUSC2, SMAD4, FOXO1, SKP1, SMAD3, KAT2B, TRIM3, ABL1, STUB1, MAPK14, PRKACA | ERAS | PIK3CG, RAF1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CDKN1A_ERAS |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CDKN1A | P38936 | DB01169 | Arsenic trioxide | Cyclin-dependent kinase inhibitor 1 | small molecule | approved|investigational |
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RelatedDiseases for CDKN1A_ERAS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CDKN1A | C0007138 | Carcinoma, Transitional Cell | 2 | CTD_human |
Hgene | CDKN1A | C0021841 | Intestinal Neoplasms | 2 | CTD_human |
Hgene | CDKN1A | C0024121 | Lung Neoplasms | 2 | CTD_human |
Hgene | CDKN1A | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Hgene | CDKN1A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | CDKN1A | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | CDKN1A | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | CDKN1A | C0022658 | Kidney Diseases | 1 | CTD_human |
Hgene | CDKN1A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | CDKN1A | C0030354 | Papilloma | 1 | CTD_human |
Hgene | CDKN1A | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | CDKN1A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | CDKN1A | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Hgene | CDKN1A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | CDKN1A | C0345967 | Malignant mesothelioma | 1 | CTD_human |