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Fusion gene ID: 1182 |
FusionGeneSummary for AHCYL1_CDK6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AHCYL1_CDK6 | Fusion gene ID: 1182 | Hgene | Tgene | Gene symbol | AHCYL1 | CDK6 | Gene ID | 10768 | 1021 |
| Gene name | adenosylhomocysteinase like 1 | cyclin dependent kinase 6 | |
| Synonyms | DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA | MCPH12|PLSTIRE | |
| Cytomap | 1p13.3 | 7q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | S-adenosylhomocysteine hydrolase-like protein 1DC-expressed AHCY-like moleculeIP(3)Rs binding protein released with IP(3)S-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2adenosylhomocysteinase 2adoHcyase 2dendritic cell | cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | O43865 | Q00534 | |
| Ensembl transtripts involved in fusion gene | ENST00000369799, ENST00000475081, ENST00000359172, ENST00000393614, | ENST00000265734, ENST00000424848, ENST00000491250, | |
| Fusion gene scores | * DoF score | 10 X 9 X 4=360 | 7 X 7 X 4=196 |
| # samples | 12 | 6 | |
| ** MAII score | log2(12/360*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/196*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AHCYL1 [Title/Abstract] AND CDK6 [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 | AHCYL1 | GO:0006378 | mRNA polyadenylation | 19224921 |
| Hgene | AHCYL1 | GO:0031440 | regulation of mRNA 3'-end processing | 19224921 |
| Hgene | AHCYL1 | GO:0038166 | angiotensin-activated signaling pathway | 20584908 |
| Hgene | AHCYL1 | GO:0051592 | response to calcium ion | 18829453 |
| Tgene | CDK6 | GO:0001954 | positive regulation of cell-matrix adhesion | 10205165 |
| Tgene | CDK6 | GO:0003323 | type B pancreatic cell development | 20668294 |
| Tgene | CDK6 | GO:0006468 | protein phosphorylation | 8114739 |
| Tgene | CDK6 | GO:0010468 | regulation of gene expression | 15254224 |
| Tgene | CDK6 | GO:0045638 | negative regulation of myeloid cell differentiation | 17431401 |
| Tgene | CDK6 | GO:0045656 | negative regulation of monocyte differentiation | 26542173 |
| Tgene | CDK6 | GO:0045668 | negative regulation of osteoblast differentiation | 15254224 |
| Tgene | CDK6 | GO:0045786 | negative regulation of cell cycle | 14985467 |
| Tgene | CDK6 | GO:2000773 | negative regulation of cellular senescence | 17420273 |
| 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 |
| ChiTaRS3.1 | AI862468 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| * 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 |
| 3UTR-intron | ENST00000369799 | ENST00000265734 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| 3UTR-intron | ENST00000369799 | ENST00000424848 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| 3UTR-intron | ENST00000369799 | ENST00000491250 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000475081 | ENST00000265734 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000475081 | ENST00000424848 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000475081 | ENST00000491250 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| 3UTR-intron | ENST00000359172 | ENST00000265734 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| 3UTR-intron | ENST00000359172 | ENST00000424848 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| 3UTR-intron | ENST00000359172 | ENST00000491250 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000393614 | ENST00000265734 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000393614 | ENST00000424848 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
| intron-intron | ENST00000393614 | ENST00000491250 | AHCYL1 | chr1 | 110564750 | - | CDK6 | chr7 | 92366341 | + |
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FusionProtFeatures for AHCYL1_CDK6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AHCYL1 | CDK6 |
| Multifaceted cellular regulator which coordinatesseveral essential cellular functions including regulation ofepithelial HCO3(-) and fluid secretion, mRNA processing and DNAreplication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate competing for the common binding site and acting asendogenous 'pseudoligand' whose inhibitory activity can bemodulated by its phosphorylation status. In the pancreatic andsalivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1(PubMed:16793548). When extracellular stimuli induce ITPR1phosphorylation or inositol 1,4,5-trisphosphate production,dissociates of ITPR1 to interact with CFTR and SLC26A6 mediatingtheir synergistic activation by calcium and cAMP that stimulatesthe epithelial secretion of electrolytes and fluid (Bysimilarity). Also activates basolateral SLC4A4 isoform 1 tocoordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibitsthe effect of STK39 on SLC4A4 and CFTR by recruiting PP1phosphatase which activates SLC4A4, SLC26A6 and CFTR throughdephosphorylation (By similarity). Mediates the induction ofSLC9A3 surface expression produced by Angiotensin-2(PubMed:20584908). Depending on the cell type, activates SLC9A3 inresponse to calcium or reverses SLC9A3R2-dependent calciuminhibition (PubMed:18829453). May modulate the polyadenylationstate of specific mRNAs, both by controlling the subcellularlocation of FIP1L1 and by inhibiting PAPOLA activity, in responseto a stimulus that alters its phosphorylation state(PubMed:19224921). Acts as a (dATP)-dependent inhibitor ofribonucleotide reductase large subunit RRM1, controlling theendogenous dNTP pool and ensuring normal cell cycle progression(PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity).{ECO:0000250|UniProtKB:B5DFN2, ECO:0000250|UniProtKB:Q80SW1,ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:16793548,ECO:0000269|PubMed:18829453, ECO:0000269|PubMed:19224921,ECO:0000269|PubMed:20584908, ECO:0000269|PubMed:25237103}. | Serine/threonine-protein kinase involved in the controlof the cell cycle and differentiation; promotes G1/S transition.Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclinsduring interphase at G1 to form a pRB/RB1 kinase and controls theentrance into the cell cycle. Involved in initiation andmaintenance of cell cycle exit during cell differentiation;prevents cell proliferation and regulates negatively celldifferentiation, but is required for the proliferation of specificcell types (e.g. erythroid and hematopoietic cells). Essential forcell proliferation within the dentate gyrus of the hippocampus andthe subventricular zone of the lateral ventricles. Required duringthymocyte development. Promotes the production of newborn neurons,probably by modulating G1 length. Promotes, at least inastrocytes, changes in patterns of gene expression, changes in theactin cytoskeleton including loss of stress fibers, and enhancedmotility during cell differentiation. Prevents myeloiddifferentiation by interfering with RUNX1 and reducing itstranscription transactivation activity, but promotes proliferationof normal myeloid progenitors. Delays senescence. Promotes theproliferation of beta-cells in pancreatic islets of Langerhans.May play a role in the centrosome organization during the cellcycle phases (PubMed:23918663). {ECO:0000269|PubMed:12833137,ECO:0000269|PubMed:14985467, ECO:0000269|PubMed:15254224,ECO:0000269|PubMed:15809340, ECO:0000269|PubMed:17420273,ECO:0000269|PubMed:17431401, ECO:0000269|PubMed:20333249,ECO:0000269|PubMed:20668294, ECO:0000269|PubMed:23918663,ECO:0000269|PubMed:8114739}. |
| 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 AHCYL1_CDK6 |
| 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 AHCYL1_CDK6 |
| 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 |
| - 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 AHCYL1_CDK6 |
| 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 | CDK6 | Q00534 | DB09073 | Palbociclib | Cyclin-dependent kinase 6 | small molecule | approved|investigational |
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RelatedDiseases for AHCYL1_CDK6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CDK6 | C0025149 | Medulloblastoma | 2 | CTD_human |
| Tgene | CDK6 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | CDK6 | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Tgene | CDK6 | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | CDK6 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Tgene | CDK6 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | CDK6 | C0263454 | Chloracne | 1 | CTD_human |
| Tgene | CDK6 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | CDK6 | C0677866 | Brain Stem Neoplasms | 1 | CTD_human |
| Tgene | CDK6 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Tgene | CDK6 | C4015156 | MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | 1 | UNIPROT |
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