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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:MCOLN2-CDK1 (FusionGDB2 ID:HG255231TG983) |
Fusion Gene Summary for MCOLN2-CDK1 |
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Fusion gene information | Fusion gene name: MCOLN2-CDK1 | Fusion gene ID: hg255231tg983 | 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 | ('MCOLN2')('CDK1') 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 | 20200313 | 20200327 | |
UniProtAcc | Q8IZK6 | . | |
Ensembl transtripts involved in fusion gene | ENST00000370608, ENST00000531325, ENST00000284027, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 4=36 |
# samples | 2 | 4 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/36*10)=0.15200309344505 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] | ||
Most frequent breakpoint | MCOLN2(85462479)-CDK1(62539899), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CDK1 | GO:0006468 | protein phosphorylation | 23509069|23574715 |
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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LUAD | TCGA-55-6971-01A | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
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Fusion Gene ORF analysis for MCOLN2-CDK1 |
![]() * 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-3UTR | ENST00000370608 | ENST00000519760 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
5CDS-5UTR | ENST00000370608 | ENST00000316629 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
5CDS-5UTR | ENST00000370608 | ENST00000395284 | 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 | + |
5UTR-3UTR | ENST00000531325 | ENST00000519760 | 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-5UTR | ENST00000531325 | ENST00000448257 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
5UTR-intron | ENST00000531325 | ENST00000373809 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
intron-3UTR | ENST00000284027 | ENST00000519760 | 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-5UTR | ENST00000284027 | ENST00000448257 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
intron-intron | ENST00000284027 | ENST00000373809 | MCOLN2 | chr1 | 85462479 | - | CDK1 | chr10 | 62539899 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MCOLN2-CDK1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for MCOLN2-CDK1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:85462479/:62539899) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
MCOLN2 | . |
FUNCTION: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). {ECO:0000250|UniProtKB:Q8K595, ECO:0000269|PubMed:17662026, ECO:0000269|PubMed:19885840, ECO:0000269|PubMed:19940139, ECO:0000305}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for MCOLN2-CDK1 |
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Fusion Gene PPI Analysis for MCOLN2-CDK1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for MCOLN2-CDK1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MCOLN2-CDK1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human | |
Tgene | C1306067 | Drug-induced paranoid state | 1 | PSYGENET | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human |