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Fusion gene ID: 21322 |
FusionGeneSummary for MCOLN2_CDK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MCOLN2_CDK1 | Fusion gene ID: 21322 | Hgene | Tgene | Gene symbol | MCOLN2 | CDK1 | Gene ID | 255231 | 983 |
| Gene name | mucolipin 2 | cyclin dependent kinase 1 | |
| Synonyms | TRP-ML2|TRPML2 | CDC2|CDC28A|P34CDC2 | |
| Cytomap | 1p22.3 | 10q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mucolipin-2transient receptor potential channel mucolipin 2 | cyclin-dependent kinase 1cell cycle controller CDC2cell division control protein 2 homologcell division cycle 2, G1 to S and G2 to Mcell division protein kinase 1p34 protein kinase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IZK6 | P06493 | |
| Ensembl transtripts involved in fusion gene | ENST00000370608, ENST00000284027, ENST00000531325, | ENST00000316629, ENST00000395284, ENST00000519760, ENST00000448257, ENST00000373809, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 2 X 3=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MCOLN2 [Title/Abstract] AND CDK1 [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 | CDK1 | GO:0018105 | peptidyl-serine phosphorylation | 11298763|19879842 |
| Tgene | CDK1 | GO:0018107 | peptidyl-threonine phosphorylation | 11298763 |
| Tgene | CDK1 | GO:0034501 | protein localization to kinetochore | 18195732 |
| Tgene | CDK1 | GO:0043066 | negative regulation of apoptotic process | 11069302 |
| 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 | LUAD | TCGA-55-6971-01A | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| * 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 | ENST00000370608 | ENST00000316629 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5CDS-5UTR | ENST00000370608 | ENST00000395284 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5CDS-3UTR | ENST00000370608 | ENST00000519760 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5CDS-5UTR | ENST00000370608 | ENST00000448257 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5CDS-intron | ENST00000370608 | ENST00000373809 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| intron-5UTR | ENST00000284027 | ENST00000316629 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| intron-5UTR | ENST00000284027 | ENST00000395284 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| intron-3UTR | ENST00000284027 | ENST00000519760 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| intron-5UTR | ENST00000284027 | ENST00000448257 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| intron-intron | ENST00000284027 | ENST00000373809 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5UTR-5UTR | ENST00000531325 | ENST00000316629 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5UTR-5UTR | ENST00000531325 | ENST00000395284 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5UTR-3UTR | ENST00000531325 | ENST00000519760 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5UTR-5UTR | ENST00000531325 | ENST00000448257 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
| 5UTR-intron | ENST00000531325 | ENST00000373809 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
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FusionProtFeatures for MCOLN2_CDK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MCOLN2 | CDK1 |
| Nonselective cation channel probably playing a role inthe regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity(PubMed:19940139, PubMed:19885840). May activate ARF6 and beinvolved in the trafficking of GPI-anchored cargo proteins to thecell surface via the ARF6-regulated recycling pathway(PubMed:17662026). May play a role in immune processes. Inadaptive immunity, TRPML2 and TRPML1 may play redundant roles inthe function of the specialized lysosomes of B cells (Bysimilarity). In the innate immune response, may play a role in theregulation of chemokine secretion and macrophage migration (Bysimilarity). Through a possible and probably tissue-specificheteromerization with MCOLN1 may be at least in part involved inmany lysosome-dependent cellular events (PubMed:19885840).{ECO:0000250|UniProtKB:Q8K595, ECO:0000269|PubMed:17662026,ECO:0000269|PubMed:19885840, ECO:0000269|PubMed:19940139,ECO:0000305}. | Plays a key role in the control of the eukaryotic cellcycle by modulating the centrosome cycle as well as mitotic onset;promotes G2-M transition, and regulates G1 progress and G1-Stransition via association with multiple interphase cyclins.Required in higher cells for entry into S-phase and mitosis.Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C,CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB,CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR,FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1proteins/histone H1, HMGA1, HIVEP3/KRC, LMNA, LMNB, LMNC, LBR,LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MYB, NEFH, NFIC,NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1,NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53,NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, UL40/R2, RAB4A, RAP1GAP,RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin,STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1,FOXO1, RUNX1/AML1, SAMHD1, SIRT2 and RUNX2. CDK1/CDC2-cyclin-Bcontrols pronuclear union in interphase fertilized eggs. Essentialfor early stages of embryonic development. During G2 and earlymitosis, CDC25A/B/C-mediated dephosphorylation activatesCDK1/cyclin complexes which phosphorylate several substrates thattrigger at least centrosome separation, Golgi dynamics, nuclearenvelope breakdown and chromosome condensation. Once chromosomesare condensed and aligned at the metaphase plate, CDK1 activity isswitched off by WEE1- and PKMYT1-mediated phosphorylation to allowsister chromatid separation, chromosome decondensation,reformation of the nuclear envelope and cytokinesis. Inactivatedby PKR/EIF2AK2- and WEE1-mediated phosphorylation upon DNA damageto stop cell cycle and genome replication at the G2 checkpointthus facilitating DNA repair. Reactivated after successful DNArepair through WIP1-dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression.In proliferating cells, CDK1-mediated FOXO1 phosphorylation at theG2-M phase represses FOXO1 interaction with 14-3-3 proteins andthereby promotes FOXO1 nuclear accumulation and transcriptionfactor activity, leading to cell death of postmitotic neurons. Thephosphorylation of beta-tubulins regulates microtubule dynamicsduring mitosis. NEDD1 phosphorylation promotes PLK1-mediated NEDD1phosphorylation and subsequent targeting of the gamma-tubulin ringcomplex (gTuRC) to the centrosome, an important step for spindleformation. In addition, CC2D1A phosphorylation regulates CC2D1Aspindle pole localization and association with SCC1/RAD21 andcentriole cohesion during mitosis. The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggersapoptosis. In contrast, CASP8 phosphorylation during mitosisprevents its activation by proteolysis and subsequent apoptosis.This phosphorylation occurs in cancer cell lines, as well as inprimary breast tissues and lymphocytes. EZH2 phosphorylationpromotes H3K27me3 maintenance and epigenetic gene silencing. CALD1phosphorylation promotes Schwann cell migration during peripheralnerve regeneration. CDK1-cyclin-B complex phosphorylates NCKAP5Land mediates its dissociation from centrosomes during mitosis(PubMed:26549230). {ECO:0000269|PubMed:16371510,ECO:0000269|PubMed:16407259, ECO:0000269|PubMed:16933150,ECO:0000269|PubMed:17459720, ECO:0000269|PubMed:18356527,ECO:0000269|PubMed:18480403, ECO:0000269|PubMed:19509060,ECO:0000269|PubMed:19917720, ECO:0000269|PubMed:20171170,ECO:0000269|PubMed:20360007, ECO:0000269|PubMed:20395957,ECO:0000269|PubMed:20935635, ECO:0000269|PubMed:20937773,ECO:0000269|PubMed:21063390, ECO:0000269|PubMed:23601106,ECO:0000269|PubMed:23602554, ECO:0000269|PubMed:25556658,ECO:0000269|PubMed:26549230}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) in hepatocytes and facilitates its cell entry.{ECO:0000269|PubMed:21516087}. |
| 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 MCOLN2_CDK1 |
| 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 MCOLN2_CDK1 |
| 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 |
| MCOLN2 | MCOLN3 | CDK1 | FANCG, GADD45A, FANCA, FANCC, DAB2, FEN1, CCNA2, NSFL1C, CCNE1, CCNB1, CCNA1, LYN, LATS1, CDKN3, CNOT7, TP53, CUX1, FYN, MKI67, TSC1, SPAG5, BCL2, LZTS1, BRCA1, SFN, PRKCB, ZBTB16, CDC25C, GADD45B, GADD45G, CCNF, MAP4, CIITA, CDKN1A, USP19, USP32, USP45, UIMC1, HMGB1, CDCA2, DLGAP5, MGMT, TSPYL2, FOXM1, KMT2E, EZH2, RYK, CSNK2A1, ARID4A, HIST1H1D, PPP2R1B, PPP2R1A, HDAC5, RUNX1, UHRF2, KAT5, CCND1, HDGF, SSBP1, NCAPD2, NCAPG, NCAPH, HIST1H1B, HIST1H1A, MARCKS, CDKN1B, PSMA6, RB1, SP1, RPA1, KIF26B, FZR1, UBE2I, PPP1CA, PPP1CC, FBXO5, CDK2, H1F0, CKS1B, CKS2, CSN2, KCND3, CDT1, BUB1, CDK1, REPS2, EPN1, MBP, HTRA2, KIF11, EGFR, WEE1, TFDP1, E2F1, RACGAP1, PRC1, LMNB1, CCP110, IL16, VCP, EEF2K, PML, HIST1H4A, FN1, VCAM1, CDC6, ITGA4, CDK7, UCHL1, CDC25B, CDCA5, RGCC, SOX2, HMGA1, TP53BP1, POLA1, DCTN6, PTMA, BAG3, SQSTM1, IL3RA, CD8A, CXCR1, JAK3, RELB, TNNC1, PAK6, MLKL, CCNB2, PKMYT1, FBXO6, ZRANB2, CDC37, STAU1, USP16, SAMHD1, HSP90AA1, HSPA4, ABL1, SIRT1, BTRC, HUWE1, EP300, NCL, CUL7, OBSL1, CCDC8, HIST1H2AB, HIST1H2BB, RNF2, CDC20, CCNB1IP1, BARD1, CCND3, CDK3, SKP2, ICK, CDK17, CDKN1C, GMNN, NTRK1, CCNK, HSPB1, PCBP1, PPM1B, PRDX2, IFI16, KIAA0753, CCDC14, ATP2A2, SORT1, CHEK1, MVD, TCP1, CDK13, ATP6V0D1, DLG5, CCT7, CCT4, ASCC3, CCT5, CUTA, TMEM165, C19orf52, ESCO1, MSI2, GATA2, ANAPC4, CCDC6, GLI1, NF2, SNW1, USP22, SLBP, ZNF746, CCDC102B, IKZF5, AAR2, DCD, ALYREF, ERH, JUP, TXN, SLC25A5, DSP, RBMXL2, FBL, SAFB, HRNR, MOB2, LYZ, SCYL2, FLG2, GFAP, RNPS1, KPRP, COX15, DLD, DLST, DNM1L, HSD17B10, SDHA, VDAC1, BOLA2, BOLA2B, BCL2L1, MDM4, FOXA1, TRIM25, DANCR, G3BP1, TES, STK3, PTPN6 |
| - 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 MCOLN2_CDK1 |
| 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 MCOLN2_CDK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CDK1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CDK1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | CDK1 | C1306067 | Drug-induced paranoid state | 1 | PSYGENET |
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