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Fusion gene ID: 6638 |
FusionGeneSummary for CDKN2A_FASTKD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDKN2A_FASTKD3 | Fusion gene ID: 6638 | Hgene | Tgene | Gene symbol | CDKN2A | FASTKD3 | Gene ID | 1029 | 79072 |
| Gene name | cyclin dependent kinase inhibitor 2A | FAST kinase domains 3 | |
| Synonyms | ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16 | - | |
| Cytomap | 9p21.3 | 5p15.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase inhibitor 2ACDK4 inhibitor p16-INK4alternative reading framecell cycle negative regulator betacyclin-dependent kinase 4 inhibitor Acyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)multiple tumor suppressor 1 | FAST kinase domain-containing protein 3, mitochondrial | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q8N726 | Q14CZ7 | |
| Ensembl transtripts involved in fusion gene | ENST00000361570, ENST00000304494, ENST00000579755, ENST00000579122, ENST00000578845, ENST00000530628, ENST00000498124, ENST00000498628, ENST00000494262, ENST00000446177, ENST00000479692, ENST00000497750, ENST00000470819, | ENST00000264669, ENST00000513658, | |
| Fusion gene scores | * DoF score | 11 X 4 X 9=396 | 3 X 1 X 3=9 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/396*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CDKN2A [Title/Abstract] AND FASTKD3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | CDKN2A | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
| Hgene | CDKN2A | GO:0007050 | cell cycle arrest | 15149599 |
| Hgene | CDKN2A | GO:0008285 | negative regulation of cell proliferation | 15149599 |
| Hgene | CDKN2A | GO:0030308 | negative regulation of cell growth | 10208428 |
| Hgene | CDKN2A | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 10353611 |
| Hgene | CDKN2A | GO:0042326 | negative regulation of phosphorylation | 8259215|10208428 |
| Hgene | CDKN2A | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 7739547|8259215 |
| Tgene | FASTKD3 | GO:0033617 | mitochondrial respiratory chain complex IV assembly | 27789713 |
| Tgene | FASTKD3 | GO:0044528 | regulation of mitochondrial mRNA stability | 27789713 |
| Tgene | FASTKD3 | GO:0070131 | positive regulation of mitochondrial translation | 27789713 |
| 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 | RV | MESO | TCGA-TS-A7P1-01A | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| * 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 |
| Frame-shift | ENST00000361570 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| 5CDS-5UTR | ENST00000361570 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000304494 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000304494 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| Frame-shift | ENST00000579755 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| 5CDS-5UTR | ENST00000579755 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000579122 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000579122 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000578845 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000578845 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| Frame-shift | ENST00000530628 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| 5CDS-5UTR | ENST00000530628 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000498124 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000498124 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000498628 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000498628 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000494262 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000494262 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000446177 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000446177 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000479692 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000479692 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000497750 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000497750 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000470819 | ENST00000264669 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000470819 | ENST00000513658 | CDKN2A | chr9 | 21994138 | - | FASTKD3 | chr5 | 7866096 | - |
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FusionProtFeatures for CDKN2A_FASTKD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDKN2A | FASTKD3 |
| Capable of inducing cell cycle arrest in G1 and G2phases. Acts as a tumor suppressor. Binds to MDM2 and blocks itsnucleocytoplasmic shuttling by sequestering it in the nucleolus.This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependenttransactivation and apoptosis. Also induces G2 arrest andapoptosis in a p53-independent manner by preventing the activationof cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulatesBCL6-induced transcriptional repression. Binds to E2F1 and MYC andblocks their transcriptional activator activity but has no effecton MYC transcriptional repression. Binds to TOP1/TOPOI andstimulates its activity. This complex binds to rRNA gene promotersand may play a role in rRNA transcription and/or maturation.Interacts with NPM1/B23 and promotes its polyubiquitination anddegradation, thus inhibiting rRNA processing. Interacts withCOMMD1 and promotes its 'Lys63'-linked polyubiquitination.Interacts with UBE2I/UBC9 and enhances sumoylation of a number ofits binding partners including MDM2 and E2F1. Binds to HUWE1 andrepresses its ubiquitin ligase activity. May play a role incontrolling cell proliferation and apoptosis during mammary glanddevelopment. Isoform smARF may be involved in regulation ofautophagy and caspase-independent cell death; the short-livedmitochondrial isoform is stabilized by C1QBP.{ECO:0000269|PubMed:11314011, ECO:0000269|PubMed:11314038,ECO:0000269|PubMed:12660818, ECO:0000269|PubMed:14636574,ECO:0000269|PubMed:15361825, ECO:0000269|PubMed:15567177,ECO:0000269|PubMed:15876874, ECO:0000269|PubMed:15989956,ECO:0000269|PubMed:16713577, ECO:0000269|PubMed:18305112,ECO:0000269|PubMed:22094112, ECO:0000269|PubMed:9724636}. | Required for normal mitochondrial respiration(PubMed:20869947). Increases steady-state levels and half-lives ofa subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB,MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation andincreases mitochondrial complex IV assembly and activity(PubMed:27789713). {ECO:0000269|PubMed:20869947,ECO:0000269|PubMed:27789713}. |
| 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 CDKN2A_FASTKD3 |
| 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 CDKN2A_FASTKD3 |
| 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 |
| CDKN2A | PPP1R9B, CDK4, AURKA, CDK6, CCND2, SERTAD1, MDM2, RPL11, TP53, UBE2A, FKBP2, CCND1, E4F1, CCNG1, MDM4, ING4, DAXX, TOP1, PSME3, PSMC3, LAMTOR3, SMARCA4, ING1, KAT5, YY1, NPM1, SAP25, TRIP12, HUWE1, PCNA, MCM6, UCHL1, VHL, SP1, TTF1, HIST3H2BB, HDAC1, ARFIP2, GGA1, WRN, TP63, NCL, PPP1CB, PPP1CC, COMMD1, TRADD, UBE2I, CUL2, COPS5, SENP3, CDK5RAP3, CTBP2, RNF2, PIAS2, MYC, BRCA1, IKBKB, GGA3, CDKN2AIP, NMI, ATR, MYCN, HIF1A, E2F1, EGR1, SLC4A1, ZNF420, SIVA1, GMNN, ORC4, CDC6, CDC5L, CDC45, CDC7, MCM2, MCM10, MCM5, MAPK8, MAPK10, DEAF1, TDRD7, CRELD2, HNRNPU, FN1, PRKCA, DYRK1B, HIPK4, CDK11A, CLK2, UBE4B, USP26, SNRPA, TUBA1C, TUBB4B, TUBA1A, TUBB, HSPA9, SNRPB, RUVBL2, RIN2, PDCD6, MMRN1, MYL12A, MTR, HNRNPC, HSPA4, HSPA8, HSP90AB1, HSP90AA1, GAPDH, EPHA3, EEF2, ACLY, ACTN4, ACTG1, ACTB, HNRNPA2B1, BRK1, ACTA1, ACTBL2, CSTF2, LSM8, NCKAP1, RPP38, GNL3, DGCR8, BCL2L1, C1QBP, BECN1, RELA, MOV10, NXF1, PA2G4, ZBTB17, ANGPTL4, CASC3, NAT2, WHSC1L1, MYO1C, IQGAP1, MIS12, BAG6, CFAP97, TRIM28, PML, KAT2B, GLTSCR2, RRM2, IGF1R, PTEN, UBC, ANKRA2, ASPRV1, AZIN1, ANAPC15, ZGRF1, CCNDBP1, CENPA, EFHC2, EXOC2, HLA-DOB, MAF1, MGC34796, PTP4A3, RBM26, SIX2, UBL7, VAMP1, ZNF687, ZUFSP | FASTKD3 | VHL, MAGEA12, AGTRAP, FAM9B, BSG, SPACA1, KIR2DS2, PLAUR, SIAE, LAMP3, VTN, MUC20, SLAMF1, NPY2R |
| - 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 CDKN2A_FASTKD3 |
| 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 |
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RelatedDiseases for CDKN2A_FASTKD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDKN2A | C1835044 | MELANOMA, CUTANEOUS MALIGNANT, 2 | 11 | CTD_human;UNIPROT |
| Hgene | CDKN2A | C0024121 | Lung Neoplasms | 4 | CTD_human |
| Hgene | CDKN2A | C0011570 | Mental Depression | 3 | PSYGENET |
| Hgene | CDKN2A | C0011581 | Depressive disorder | 3 | PSYGENET |
| Hgene | CDKN2A | C0023903 | Liver neoplasms | 3 | CTD_human |
| Hgene | CDKN2A | C0005695 | Bladder Neoplasm | 2 | CTD_human |
| Hgene | CDKN2A | C0006118 | Brain Neoplasms | 2 | CTD_human |
| Hgene | CDKN2A | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
| Hgene | CDKN2A | C0017638 | Glioma | 2 | CTD_human |
| Hgene | CDKN2A | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Hgene | CDKN2A | C0040715 | Chromosomal translocation | 2 | CTD_human |
| Hgene | CDKN2A | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | CDKN2A | C0345967 | Malignant mesothelioma | 2 | CTD_human |
| Hgene | CDKN2A | C1168401 | Squamous cell carcinoma of the head and neck | 2 | CTD_human |
| Hgene | CDKN2A | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Hgene | CDKN2A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | CDKN2A | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0007137 | Squamous cell carcinoma | 1 | CTD_human;HPO |
| Hgene | CDKN2A | C0008628 | Chromosome Deletion | 1 | CTD_human |
| Hgene | CDKN2A | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0017601 | Glaucoma | 1 | CTD_human |
| Hgene | CDKN2A | C0022783 | Vulvar Lichen Sclerosus | 1 | CTD_human |
| Hgene | CDKN2A | C0024299 | Lymphoma | 1 | CTD_human |
| Hgene | CDKN2A | C0025202 | melanoma | 1 | CTD_human;HPO |
| Hgene | CDKN2A | C0025500 | Mesothelioma | 1 | CTD_human |
| Hgene | CDKN2A | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0026764 | Multiple Myeloma | 1 | CTD_human |
| Hgene | CDKN2A | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | CDKN2A | C0027819 | Neuroblastoma | 1 | CTD_human |
| Hgene | CDKN2A | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Hgene | CDKN2A | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | CDKN2A | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Hgene | CDKN2A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0040100 | Thymoma | 1 | CTD_human |
| Hgene | CDKN2A | C0041107 | Trisomy | 1 | CTD_human |
| Hgene | CDKN2A | C0042065 | Genitourinary Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | CDKN2A | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | CDKN2A | C0151779 | Cutaneous Melanoma | 1 | CTD_human |
| Hgene | CDKN2A | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Hgene | CDKN2A | C0206727 | Nerve Sheath Tumors | 1 | CTD_human |
| Hgene | CDKN2A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | CDKN2A | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| Hgene | CDKN2A | C0596263 | Carcinogenesis | 1 | CTD_human |
| Hgene | CDKN2A | C0677866 | Brain Stem Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| Hgene | CDKN2A | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
| Hgene | CDKN2A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | CDKN2A | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Hgene | CDKN2A | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | CDKN2A | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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