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Fusion gene ID: 651 |
FusionGeneSummary for ACVR1_CDK4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVR1_CDK4 | Fusion gene ID: 651 | Hgene | Tgene | Gene symbol | ACVR1 | CDK4 | Gene ID | 90 | 1019 |
| Gene name | activin A receptor type 1 | cyclin dependent kinase 4 | |
| Synonyms | ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI | CMM3|PSK-J3 | |
| Cytomap | 2q24.1 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-1TGF-B superfamily receptor type Iactivin A receptor, type Iactivin A receptor, type II-like kinase 2activin receptor type Iactivin receptor-like kinase 2hydroxyalkyl-protein kinaseserine/threonine-protein kinase receptor R1 | cyclin-dependent kinase 4cell division protein kinase 4 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q04771 | P11802 | |
| Ensembl transtripts involved in fusion gene | ENST00000263640, ENST00000409283, ENST00000434821, ENST00000410057, ENST00000487456, | ENST00000257904, ENST00000312990, ENST00000549606, ENST00000540325, ENST00000551888, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 7 X 2 X 3=42 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/42*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ACVR1 [Title/Abstract] AND CDK4 [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 | ACVR1 | GO:0006468 | protein phosphorylation | 12065756|19506109 |
| Hgene | ACVR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8242742 |
| Hgene | ACVR1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 19506109 |
| Hgene | ACVR1 | GO:0018107 | peptidyl-threonine phosphorylation | 19736306 |
| Hgene | ACVR1 | GO:0030509 | BMP signaling pathway | 18436533 |
| Hgene | ACVR1 | GO:0032924 | activin receptor signaling pathway | 19506109 |
| Hgene | ACVR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 8242742 |
| Hgene | ACVR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19506109 |
| Hgene | ACVR1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 19736306 |
| Hgene | ACVR1 | GO:2000017 | positive regulation of determination of dorsal identity | 19506109 |
| Tgene | CDK4 | GO:0006468 | protein phosphorylation | 8114739 |
| Tgene | CDK4 | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 19124461 |
| Tgene | 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 | SKCM | TCGA-ER-A197-06A | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| * 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 | ENST00000263640 | ENST00000257904 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000263640 | ENST00000312990 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-intron | ENST00000263640 | ENST00000549606 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000263640 | ENST00000540325 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000263640 | ENST00000551888 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000409283 | ENST00000257904 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000409283 | ENST00000312990 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-intron | ENST00000409283 | ENST00000549606 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000409283 | ENST00000540325 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000409283 | ENST00000551888 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| 5UTR-5UTR | ENST00000434821 | ENST00000257904 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| 5UTR-5UTR | ENST00000434821 | ENST00000312990 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| 5UTR-intron | ENST00000434821 | ENST00000549606 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| 5UTR-5UTR | ENST00000434821 | ENST00000540325 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| 5UTR-5UTR | ENST00000434821 | ENST00000551888 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000410057 | ENST00000257904 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000410057 | ENST00000312990 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-intron | ENST00000410057 | ENST00000549606 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000410057 | ENST00000540325 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000410057 | ENST00000551888 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000487456 | ENST00000257904 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000487456 | ENST00000312990 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-intron | ENST00000487456 | ENST00000549606 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000487456 | ENST00000540325 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
| intron-5UTR | ENST00000487456 | ENST00000551888 | ACVR1 | chr2 | 158732308 | - | CDK4 | chr12 | 58145519 | - |
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FusionProtFeatures for ACVR1_CDK4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR1 | CDK4 |
| On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for activin. May be involvedfor left-right pattern formation during embryogenesis (Bysimilarity). {ECO:0000250}. | 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}. |
| 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 ACVR1_CDK4 |
| 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 ACVR1_CDK4 |
| 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 |
| ACVR1 | FNTA, BMPR2, GDF5, ENG, BMP7, SMAD5, SMAD1, ACVR1B, TGFBR2, TSC22D1, IGSF1, SMURF1, BAMBI, SMAD6, SMAD7, PEG10, INHBA, ACVR2A, BMPR1A, ACVR1, USP15, ACVRL1, TGFBRAP1, GRAMD1A, MED16, RNF149, ARV1, OTUB1, LRRIQ1, TNFRSF10A, MRAP2, CD320 | 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 |
| - 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 ACVR1_CDK4 |
| 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 |
| Tgene | CDK4 | P11802 | DB09073 | Palbociclib | Cyclin-dependent kinase 4 | small molecule | approved|investigational |
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RelatedDiseases for ACVR1_CDK4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACVR1 | C0017638 | Glioma | 3 | CTD_human |
| Hgene | ACVR1 | C0016037 | Fibrodysplasia Ossificans Progressiva | 2 | ORPHANET;UNIPROT |
| Hgene | ACVR1 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | ACVR1 | C0242488 | Acute Lung Injury | 1 | CTD_human |
| Hgene | ACVR1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | CDK4 | C0024668 | Mammary Neoplasms, Experimental | 3 | CTD_human |
| Tgene | CDK4 | C1836892 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 | 3 | CTD_human;UNIPROT |
| Tgene | CDK4 | C0023827 | liposarcoma | 2 | CTD_human |
| Tgene | CDK4 | C0024667 | Animal Mammary Neoplasms | 2 | CTD_human |
| Tgene | CDK4 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| Tgene | CDK4 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | CDK4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | CDK4 | C0677866 | Brain Stem Neoplasms | 1 | CTD_human |
| Tgene | CDK4 | C2239176 | Liver carcinoma | 1 | CTD_human |
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