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Fusion gene ID: 8401 |
FusionGeneSummary for CREB3L2_CDKN1A |
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Fusion gene information | Fusion gene name: CREB3L2_CDKN1A | Fusion gene ID: 8401 | Hgene | Tgene | Gene symbol | CREB3L2 | CDKN1A | Gene ID | 64764 | 1026 |
Gene name | cAMP responsive element binding protein 3 like 2 | cyclin dependent kinase inhibitor 1A | |
Synonyms | BBF2H7 | CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1 | |
Cytomap | 7q33 | 6p21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2 | 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 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q70SY1 | P38936 | |
Ensembl transtripts involved in fusion gene | ENST00000330387, ENST00000456390, ENST00000452463, ENST00000458726, ENST00000468127, | ENST00000448526, ENST00000244741, ENST00000405375, ENST00000373711, ENST00000478800, | |
Fusion gene scores | * DoF score | 11 X 10 X 3=330 | 2 X 3 X 1=6 |
# samples | 13 | 3 | |
** MAII score | log2(13/330*10)=-1.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/6*10)=2.32192809488736 | |
Context | PubMed: CREB3L2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CREB3L2 | GO:0045893 | positive regulation of transcription, DNA-templated | 17178827 |
Tgene | CDKN1A | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
Tgene | CDKN1A | GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 15149599 |
Tgene | CDKN1A | GO:0007050 | cell cycle arrest | 15149599 |
Tgene | CDKN1A | GO:0008285 | negative regulation of cell proliferation | 10208428|15149599 |
Tgene | CDKN1A | GO:0030308 | negative regulation of cell growth | 10208428 |
Tgene | CDKN1A | GO:0042326 | negative regulation of phosphorylation | 10208428 |
Tgene | CDKN1A | GO:0045860 | positive regulation of protein kinase activity | 22869755 |
![]() (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 |
ChiTaRS3.1 | BC037414 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3CDS | ENST00000330387 | ENST00000448526 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000330387 | ENST00000244741 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000330387 | ENST00000405375 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000330387 | ENST00000373711 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3UTR | ENST00000330387 | ENST00000478800 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000456390 | ENST00000448526 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000456390 | ENST00000244741 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000456390 | ENST00000405375 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000456390 | ENST00000373711 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3UTR | ENST00000456390 | ENST00000478800 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000452463 | ENST00000448526 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000452463 | ENST00000244741 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000452463 | ENST00000405375 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000452463 | ENST00000373711 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3UTR | ENST00000452463 | ENST00000478800 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000458726 | ENST00000448526 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000458726 | ENST00000244741 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000458726 | ENST00000405375 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000458726 | ENST00000373711 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3UTR | ENST00000458726 | ENST00000478800 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000468127 | ENST00000448526 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000468127 | ENST00000244741 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000468127 | ENST00000405375 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3CDS | ENST00000468127 | ENST00000373711 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
intron-3UTR | ENST00000468127 | ENST00000478800 | CREB3L2 | chr7 | 137565216 | - | CDKN1A | chr6 | 36652129 | + |
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FusionProtFeatures for CREB3L2_CDKN1A |
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Hgene | Tgene |
CREB3L2 | CDKN1A |
Transcription factor involved in unfolded proteinresponse (UPR). In the absence of endoplasmic reticulum (ER)stress, inserted into ER membranes, with N-terminal DNA-bindingand transcription activation domains oriented toward the cytosolicface of the membrane. In response to ER stress, transported to theGolgi, where it is cleaved in a site-specific manner by residentproteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminalcytosolic domain is translocated to the nucleus to effecttranscription of specific target genes. Plays a critical role inchondrogenesis by activating the transcription of SEC23A, whichpromotes the transport and secretion of cartilage matrix proteins,and possibly that of ER biogenesis-related genes (By similarity).In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcriptionof target genes via direct binding to the CRE site(PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52,ECO:0000269|PubMed:17178827}. | 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}. |
![]() * 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 CREB3L2_CDKN1A |
![]() (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 CREB3L2_CDKN1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CREB3L2_CDKN1A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CDKN1A | P38936 | DB01169 | Arsenic trioxide | Cyclin-dependent kinase inhibitor 1 | small molecule | approved|investigational |
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RelatedDiseases for CREB3L2_CDKN1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CDKN1A | C0007138 | Carcinoma, Transitional Cell | 2 | CTD_human |
Tgene | CDKN1A | C0021841 | Intestinal Neoplasms | 2 | CTD_human |
Tgene | CDKN1A | C0024121 | Lung Neoplasms | 2 | CTD_human |
Tgene | CDKN1A | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | CDKN1A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | CDKN1A | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | CDKN1A | C0019693 | HIV Infections | 1 | CTD_human |
Tgene | CDKN1A | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | CDKN1A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CDKN1A | C0030354 | Papilloma | 1 | CTD_human |
Tgene | CDKN1A | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | CDKN1A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | CDKN1A | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Tgene | CDKN1A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | CDKN1A | C0345967 | Malignant mesothelioma | 1 | CTD_human |