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Fusion gene ID: 1307 |
FusionGeneSummary for AKAP12_CCND3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKAP12_CCND3 | Fusion gene ID: 1307 | Hgene | Tgene | Gene symbol | AKAP12 | CCND3 | Gene ID | 9590 | 896 |
| Gene name | A-kinase anchoring protein 12 | cyclin D3 | |
| Synonyms | AKAP250|SSeCKS | - | |
| Cytomap | 6q25.1 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | A-kinase anchor protein 12A kinase (PRKA) anchor protein 12A-kinase anchor protein, 250kDaAKAP 250Src-Suppressed C Kinase Substratekinase scaffold protein gravinmyasthenia gravis autoantigen gravin | G1/S-specific cyclin-D3D3-type cyclin | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q02952 | P30281 | |
| Ensembl transtripts involved in fusion gene | ENST00000402676, ENST00000253332, ENST00000354675, ENST00000359755, ENST00000490177, | ENST00000511642, ENST00000415497, ENST00000372988, ENST00000510503, ENST00000511686, ENST00000372991, ENST00000372987, ENST00000414200, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 6 X 2 X 5=60 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/24*10)=1.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/60*10)=0 | |
| Context | PubMed: AKAP12 [Title/Abstract] AND CCND3 [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 |
| Tgene | CCND3 | GO:0001934 | positive regulation of protein phosphorylation | 8114739 |
| Tgene | CCND3 | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 8114739 |
| 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 | SARC | TCGA-DX-A6BH-01A | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| * 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 |
| 5CDS-5UTR | ENST00000402676 | ENST00000511642 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000402676 | ENST00000415497 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-5UTR | ENST00000402676 | ENST00000372988 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-5UTR | ENST00000402676 | ENST00000510503 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000402676 | ENST00000511686 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000402676 | ENST00000372991 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000402676 | ENST00000372987 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000402676 | ENST00000414200 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-5UTR | ENST00000253332 | ENST00000511642 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000253332 | ENST00000415497 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-5UTR | ENST00000253332 | ENST00000372988 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-5UTR | ENST00000253332 | ENST00000510503 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000253332 | ENST00000511686 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000253332 | ENST00000372991 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000253332 | ENST00000372987 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| 5CDS-intron | ENST00000253332 | ENST00000414200 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000354675 | ENST00000511642 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000354675 | ENST00000415497 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000354675 | ENST00000372988 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000354675 | ENST00000510503 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000354675 | ENST00000511686 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000354675 | ENST00000372991 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000354675 | ENST00000372987 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000354675 | ENST00000414200 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000359755 | ENST00000511642 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000359755 | ENST00000415497 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000359755 | ENST00000372988 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000359755 | ENST00000510503 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000359755 | ENST00000511686 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000359755 | ENST00000372991 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000359755 | ENST00000372987 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000359755 | ENST00000414200 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000490177 | ENST00000511642 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000490177 | ENST00000415497 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000490177 | ENST00000372988 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-5UTR | ENST00000490177 | ENST00000510503 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000490177 | ENST00000511686 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000490177 | ENST00000372991 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000490177 | ENST00000372987 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
| intron-intron | ENST00000490177 | ENST00000414200 | AKAP12 | chr6 | 151561859 | + | CCND3 | chr6 | 41908323 | - |
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FusionProtFeatures for AKAP12_CCND3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKAP12 | CCND3 |
| Anchoring protein that mediates the subcellularcompartmentation of protein kinase A (PKA) and protein kinase C(PKC). | Regulatory component of the cyclin D3-CDK4 (DC) complexthat phosphorylates and inhibits members of the retinoblastoma(RB) protein family including RB1 and regulates the cell-cycleduring G(1)/S transition. Phosphorylation of RB1 allowsdissociation of the transcription factor E2F from the RB/E2Fcomplex and the subsequent transcription of E2F target genes whichare responsible for the progression through the G(1) phase.Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4complexes are major integrators of various mitogenenic andantimitogenic signals. Also substrate for SMAD3, phosphorylatingSMAD3 in a cell-cycle-dependent manner and repressing itstranscriptional activity. Component of the ternary complex, cyclinD3/CDK4/CDKN1B, required for nuclear translocation and activity ofthe cyclin D-CDK4 complex. {ECO:0000269|PubMed:15358120}. |
| 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 AKAP12_CCND3 |
| 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 AKAP12_CCND3 |
| 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 |
| AKAP12 | PRKCA, PRKAR2A, ADRB2, EGFR, FHL1, HDAC7, DYNC1H1, DYNC1I2, FLNA, DYNC1LI1, DYNLRB1, SPRTN, CEP250, TP53, TUBGCP3, EID3, PTEN, CEP290, OFD1, SCLT1, RAB2A, SIN3B, SAMHD1, SGTB, PDE4D, STK4, KIF3C, DYRK2, KIF3B, SAV1, PVRL2, BRCA1 | CCND3 | EIF3K, DTNBP1, EFEMP2, MAF1, CDKN1B, CDKN1A, CDK4, MCM10, AKAP8, RB1, ATP5C1, CDK6, RBX1, TSC2, NPDC1, PCNA, CDK11B, CRABP2, RARA, CASP2, NCOA2, CDK2, PPP1CA, PPP1CB, PPP1CC, APP, RBL2, POLD1, CDK14, SIL1, FAS, MYB, ETV1, GC, NME1, MAPK6, VDR, ATF5, CDK5, TFIP11, POLR3GL, CDK1, ZNF2, CLU, CDKN1C, CDKN2C, KLK5, CREBBP, AREG, STAP1 |
| - 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 AKAP12_CCND3 |
| 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 AKAP12_CCND3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKAP12 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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