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Fusion gene ID: 6556 |
FusionGeneSummary for CDK4_AVIL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDK4_AVIL | Fusion gene ID: 6556 | Hgene | Tgene | Gene symbol | CDK4 | AVIL | Gene ID | 1019 | 10677 |
| Gene name | cyclin dependent kinase 4 | advillin | |
| Synonyms | CMM3|PSK-J3 | ADVIL|DOC6|p92 | |
| Cytomap | 12q14.1 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 4cell division protein kinase 4 | advillin | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P11802 | O75366 | |
| Ensembl transtripts involved in fusion gene | ENST00000257904, ENST00000312990, ENST00000549606, ENST00000540325, ENST00000551888, | ENST00000537081, ENST00000257861, ENST00000550083, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 15 X 10 X 6=900 |
| # samples | 4 | 16 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/900*10)=-2.49185309632967 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDK4 [Title/Abstract] AND AVIL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and 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 | CDK4 | GO:0006468 | protein phosphorylation | 8114739 |
| Hgene | CDK4 | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 19124461 |
| Hgene | CDK4 | GO:0071157 | negative regulation of cell cycle arrest | 19124461 |
| 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 | LGG | TCGA-E1-A7YL-01A | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| * 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 |
| In-frame | ENST00000257904 | ENST00000537081 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| In-frame | ENST00000257904 | ENST00000257861 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| 5CDS-intron | ENST00000257904 | ENST00000550083 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000312990 | ENST00000537081 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000312990 | ENST00000257861 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-intron | ENST00000312990 | ENST00000550083 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000549606 | ENST00000537081 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000549606 | ENST00000257861 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-intron | ENST00000549606 | ENST00000550083 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| Frame-shift | ENST00000540325 | ENST00000537081 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| Frame-shift | ENST00000540325 | ENST00000257861 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| 5CDS-intron | ENST00000540325 | ENST00000550083 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000551888 | ENST00000537081 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-3CDS | ENST00000551888 | ENST00000257861 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
| intron-intron | ENST00000551888 | ENST00000550083 | CDK4 | chr12 | 58144706 | - | AVIL | chr12 | 58193703 | - |
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FusionProtFeatures for CDK4_AVIL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDK4 | AVIL |
| Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexesthat phosphorylate and inhibit members of the retinoblastoma (RB)protein family including RB1 and regulate the cell-cycle duringG(1)/S transition. Phosphorylation of RB1 allows dissociation ofthe transcription factor E2F from the RB/E2F complexes and thesubsequent transcription of E2F target genes which are responsiblefor the progression through the G(1) phase. Hypophosphorylates RB1in early G(1) phase. Cyclin D-CDK4 complexes are major integratorsof various mitogenenic and antimitogenic signals. Alsophosphorylates SMAD3 in a cell-cycle-dependent manner andrepresses its transcriptional activity. Component of the ternarycomplex, cyclin D/CDK4/CDKN1B, required for nuclear translocationand activity of the cyclin D-CDK4 complex.{ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403,ECO:0000269|PubMed:9003781}. | Ca(2+)-regulated actin-binding protein. May have aunique function in the morphogenesis of neuronal cells which formganglia. Required for SREC1-mediated regulation of neurite-likeoutgrowth. Plays a role in regenerative sensory axon outgrowth andremodeling processes after peripheral injury in neonates. Involvedin the formation of long fine actin-containing filopodia-likestructures in fibroblast. Plays a role in ciliogenesis.{ECO:0000269|PubMed:20393563}. |
| 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 |
| Hgene | CDK4 | chr12:58144706 | chr12:58193703 | ENST00000257904 | - | 4 | 8 | 42_48 | 174 | 304 | Compositional bias | Note=Poly-Gly |
| Hgene | CDK4 | chr12:58144706 | chr12:58193703 | ENST00000257904 | - | 4 | 8 | 12_20 | 174 | 304 | Nucleotide binding | ATP |
| Hgene | CDK4 | chr12:58144706 | chr12:58193703 | ENST00000257904 | - | 4 | 8 | 50_56 | 174 | 304 | Region | Note=Required for binding D-type cyclins |
| Tgene | >AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 753_819 | 740 | 820 | Domain | HP |
| Tgene | >AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 753_819 | 733 | 813 | Domain | HP |
| Tgene | >AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 731_819 | 733 | 813 | Region | Headpiece |
| - 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 |
| Hgene | >CDK4 | chr12:58144706 | chr12:58193703 | ENST00000257904 | - | 4 | 8 | 6_295 | 174 | 304 | Domain | Protein kinase |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 109_116 | 740 | 820 | Region | Polyphosphoinositide binding |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 135_143 | 740 | 820 | Region | Polyphosphoinositide binding |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 1_731 | 740 | 820 | Region | Core |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 731_819 | 740 | 820 | Region | Headpiece |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 109_116 | 733 | 813 | Region | Polyphosphoinositide binding |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 135_143 | 733 | 813 | Region | Polyphosphoinositide binding |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 1_731 | 733 | 813 | Region | Core |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 145_185 | 740 | 820 | Repeat | Note=Gelsolin-like 2 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 24_73 | 740 | 820 | Repeat | Note=Gelsolin-like 1 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 262_306 | 740 | 820 | Repeat | Note=Gelsolin-like 3 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 403_454 | 740 | 820 | Repeat | Note=Gelsolin-like 4 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 525_565 | 740 | 820 | Repeat | Note=Gelsolin-like 5 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000257861 | - | 16 | 19 | 628_669 | 740 | 820 | Repeat | Note=Gelsolin-like 6 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 145_185 | 733 | 813 | Repeat | Note=Gelsolin-like 2 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 24_73 | 733 | 813 | Repeat | Note=Gelsolin-like 1 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 262_306 | 733 | 813 | Repeat | Note=Gelsolin-like 3 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 403_454 | 733 | 813 | Repeat | Note=Gelsolin-like 4 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 525_565 | 733 | 813 | Repeat | Note=Gelsolin-like 5 |
| Tgene | AVIL | chr12:58144706 | chr12:58193703 | ENST00000537081 | - | 16 | 19 | 628_669 | 733 | 813 | Repeat | Note=Gelsolin-like 6 |
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FusionGeneSequence for CDK4_AVIL |
| 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 CDK4_AVIL |
| 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 |
| CDK4 | CDKN2D, VTA1, CDKN2B, CCND3, CDKN2C, CDC37, CDKN2A, RPRM, ACTR3B, DBNL, SMC3, GEMIN4, UBXN1, SMC1A, LYN, SERTAD1, BAG6, SETDB1, CAPNS1, CCND1, PCNA, CCND2, CDKN1B, CNOT7, RFC1, BRCA1, CEBPA, MYOD1, BIRC5, CDKN1A, RB1, SP1, SAP25, CDT1, HSPA8, NCOA2, TSPYL2, WDR77, PRMT5, ARID4A, PPP2R1B, PPP2R1A, UHRF2, IRF8, DAZAP2, SNCA, TK1, APLP1, DDAH2, ZBTB16, QARS, HMGXB3, TRMT2A, ATP5B, PKM, LUC7L2, ANXA7, HSP90AA1, HIST1H1D, PSMD9, HIST1H1A, CDK5R1, ARRB2, MARCKS, RPL34, PSMA6, CCNE1, CCNA2, PPP1CA, CUL3, CUL4B, CUL1, COPS5, COPS6, H1F0, PSMD10, APP, UBTF, POLD1, VCP, SMAD3, SMAD2, FOXM1, CDC6, GLI1, MYC, OTX2, RBL1, RBL2, SHOX2, MZF1, SLBP, ANKRD12, SENP3, ZNF219, BCL11A, WDR33, ZNF335, ZNF101, MCM2, CDC7, UCHL1, KLHL32, CAMK1, PTMA, IL15RA, DUSP9, PGD, SKP1, CIB1, MAPRE2, CDK13, TARDBP, HSP90AB1, CDK6, TRAP1, FKBP5, RELA, HOOK1, LIMK2, RCAN3, HSP90AB4P, HSP90AB3P, HSP90AA5P, OGFR, EIF1AX, GUSB, OGFRL1, JAK3, GFER, VSIG8, NTRK1, ANKRA2, CEP135, IQGAP1, SMTN, SORBS1, NUP133, ZNFX1, ZC3H14, TMEM126A, ASPM, UBXN10, VHL, HDAC1, PRKDC, CHEK2, ERBB2, BCL2, TOP1, PTEN, YBX3, USP17L2, FNIP1, FNIP2, MTMR14, MTMR8, VTN, PTPN1, PTPN21, DNAJC9, E2F4, CDKN1C | AVIL | CRK, RBSN, DDX11, DUS3L, FIGNL1, SCYL1, DOCK7, VIL1, TMOD2, RICTOR, RIPK4, DCTN6, MCM8, THUMPD3, BRIP1, MYO5C, ALMS1, MYO1F, TUBA4A, TUBB8, MYO1B, MYO5A, USP47, C14orf80, TUBB3, DDX11L8, WDR59, BBS1 |
| - 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 CDK4_AVIL |
| 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 | CDK4 | P11802 | DB09073 | Palbociclib | Cyclin-dependent kinase 4 | small molecule | approved|investigational |
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RelatedDiseases for CDK4_AVIL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDK4 | C0024668 | Mammary Neoplasms, Experimental | 3 | CTD_human |
| Hgene | CDK4 | C1836892 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 | 3 | CTD_human;UNIPROT |
| Hgene | CDK4 | C0023827 | liposarcoma | 2 | CTD_human |
| Hgene | CDK4 | C0024667 | Animal Mammary Neoplasms | 2 | CTD_human |
| Hgene | CDK4 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| Hgene | CDK4 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | CDK4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | CDK4 | C0677866 | Brain Stem Neoplasms | 1 | CTD_human |
| Hgene | CDK4 | C2239176 | Liver carcinoma | 1 | CTD_human |
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