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Fusion gene ID: 26283 |
FusionGeneSummary for PCNT_MCOLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCNT_MCOLN1 | Fusion gene ID: 26283 | Hgene | Tgene | Gene symbol | PCNT | MCOLN1 | Gene ID | 5116 | 57192 |
| Gene name | pericentrin | mucolipin 1 | |
| Synonyms | KEN|MOPD2|PCN|PCNT2|PCNTB|PCTN2|SCKL4 | MG-2|ML1|ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1 | |
| Cytomap | 21q22.3 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pericentrinkendrinpericentrin-2pericentrin-380pericentrin-B | mucolipin-1mucolipidinmucolipidosis type IV proteintransient receptor potential channel mucolipin 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O95613 | Q9GZU1 | |
| Ensembl transtripts involved in fusion gene | ENST00000359568, ENST00000480896, | ENST00000264079, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 3 X 3=27 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PCNT [Title/Abstract] AND MCOLN1 [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 | PCNT | GO:0060271 | cilium assembly | 15337773 |
| Tgene | MCOLN1 | GO:0051289 | protein homotetramerization | 29019983 |
| Tgene | MCOLN1 | GO:0070588 | calcium ion transmembrane transport | 29019983 |
| 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 | BRCA | TCGA-B6-A402-01A | PCNT | chr21 | 47811291 | + | MCOLN1 | chr19 | 7598409 | + |
| * 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 |
| Frame-shift | ENST00000359568 | ENST00000264079 | PCNT | chr21 | 47811291 | + | MCOLN1 | chr19 | 7598409 | + |
| 3UTR-3CDS | ENST00000480896 | ENST00000264079 | PCNT | chr21 | 47811291 | + | MCOLN1 | chr19 | 7598409 | + |
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FusionProtFeatures for PCNT_MCOLN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCNT | MCOLN1 |
| Integral component of the filamentous matrix of thecentrosome involved in the initial establishment of organizedmicrotubule arrays in both mitosis and meiosis. Plays a role,together with DISC1, in the microtubule network formation. Is anintegral component of the pericentriolar material (PCM). May playan important role in preventing premature centrosome splittingduring interphase by inhibiting NEK2 kinase activity at thecentrosome. {ECO:0000269|PubMed:10823944,ECO:0000269|PubMed:11171385, ECO:0000269|PubMed:18955030,ECO:0000269|PubMed:20599736}. | Nonselective cation channel probably playing a role inthe regulation of membrane trafficking events and of metalhomeostasis. Proposed to play a major role in Ca(2+) release fromlate endosome and lysosome vesicles to the cytoplasm, which isimportant for many lysosome-dependent cellular events, includingthe fusion and trafficking of these organelles, exocytosis andautophagy (PubMed:11013137, PubMed:12459486, PubMed:15336987,PubMed:14749347, PubMed:29019983). Required for efficient uptakeof large particles in macrophages in which Ca(2+) release from thelysosomes triggers lysosomal exocytosis. May also play a role inphagosome-lysosome fusion (By similarity). Involved inlactosylceramide trafficking indicative for a role in theregulation of late endocytic membrane fusion/fission events(PubMed:16978393). By mediating lysosomal Ca(2+) release isinvolved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such asnutrient levels (PubMed:27787197, PubMed:25733853). Seems to actas lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Functionsas a Fe(2+) permeable channel in late endosomes and lysosomes(PubMed:18794901). Proposed to play a role in zinc homeostasisprobably implicating its association with TMEM163(PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may playredundant roles in the function of the specialized lysosomes of Bcells (By similarity). {ECO:0000250|UniProtKB:Q99J21,ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:14749347,ECO:0000269|PubMed:15336987, ECO:0000269|PubMed:16978393,ECO:0000269|PubMed:18794901, ECO:0000269|PubMed:25130899,ECO:0000269|PubMed:25733853, ECO:0000269|PubMed:27357649,ECO:0000269|PubMed:27787197, ECO:0000269|PubMed:29019983,ECO:0000305|PubMed:11013137}. May contribute to cellular lipase activity within thelate endosomal pathway or at the cell surface which may beinvolved in processes of membrane reshaping and vesiculation,especially the growth of tubular structures. However, it is notknown, whether it conveys the enzymatic activity directly, ormerely facilitates the activity of an associated phospholipase.{ECO:0000305|PubMed:21256127}. |
| 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 PCNT_MCOLN1 |
| 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 PCNT_MCOLN1 |
| 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 |
| PCNT | CALM1, PCM1, TUBGCP3, TUBGCP2, DYNC1LI1, CHD3, CHD4, MBD3, MTA2, RBBP7, SIRT7, TP53BP1, CDK5RAP2, AKAP9, OBSL1, CCDC8, SUZ12, CCDC183, TSNAX, TXNDC11, DTNBP1, BIRC7, FGL2, CEP68, PLK4, CEP192, CEP63, CCDC67, CENPJ, CEP152, MED4, CEP290, CEP162, RPGRIP1L, CNTRL, SLC25A4, PAX6, YWHAZ, MAPRE1, RACGAP1, PON2, PRKAR2A, OFD1, PIBF1, CEP131, CEP72, MIB1, WDR35, C7orf50, MPV17L2, IMP4, GAN, CDC5L, EID1, TPTE2, LPXN, IKBIP, FAM81B, MZT1, MIS18A, C1orf87, TCP10L, EXOC1 | MCOLN1 | TRIM27, SLC35E1, MCOLN3, CSGALNACT2 |
| - 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 PCNT_MCOLN1 |
| 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 PCNT_MCOLN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PCNT | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| Hgene | PCNT | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PCNT | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | PCNT | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Hgene | PCNT | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | PCNT | C0265202 | Seckel syndrome | 1 | CTD_human;ORPHANET |
| Hgene | PCNT | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | PCNT | C1847572 | SECKEL SYNDROME 2 | 1 | CTD_human |
| Tgene | MCOLN1 | C0238286 | Mucolipidosis Type IV | 4 | ORPHANET;UNIPROT |
| Tgene | MCOLN1 | C0026697 | Mucolipidoses | 2 | CTD_human |
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