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Fusion gene ID: 40046 |
FusionGeneSummary for TTLL7_MCOLN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TTLL7_MCOLN2 | Fusion gene ID: 40046 | Hgene | Tgene | Gene symbol | TTLL7 | MCOLN2 | Gene ID | 79739 | 255231 |
| Gene name | tubulin tyrosine ligase like 7 | mucolipin 2 | |
| Synonyms | - | TRP-ML2|TRPML2 | |
| Cytomap | 1p31.1 | 1p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tubulin polyglutamylase TTLL7testis development protein NYD-SP30tubulin tyrosine ligase-like family, member 7tubulin--tyrosine ligase-like protein 7 | mucolipin-2transient receptor potential channel mucolipin 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6ZT98 | Q8IZK6 | |
| Ensembl transtripts involved in fusion gene | ENST00000477524, ENST00000260505, | ENST00000370608, ENST00000284027, ENST00000531325, | |
| Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TTLL7 [Title/Abstract] AND MCOLN2 [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 | TTLL7 | GO:0018095 | protein polyglutamylation | 25959773 |
| 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 | BRCA | TCGA-AN-A0AL-01A | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| * 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 |
| 5UTR-3CDS | ENST00000477524 | ENST00000370608 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| 5UTR-3CDS | ENST00000477524 | ENST00000284027 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| 5UTR-5UTR | ENST00000477524 | ENST00000531325 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| Frame-shift | ENST00000260505 | ENST00000370608 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| Frame-shift | ENST00000260505 | ENST00000284027 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
| 5CDS-5UTR | ENST00000260505 | ENST00000531325 | TTLL7 | chr1 | 84369762 | - | MCOLN2 | chr1 | 85403765 | - |
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FusionProtFeatures for TTLL7_MCOLN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TTLL7 | MCOLN2 |
| Polyglutamylase which preferentially modifies beta-tubulin (PubMed:25959773). Mediates both ATP-dependent initiationand elongation of polyglutamylation of microtubules(PubMed:25959773). Required for neurite growth; responsible forthe strong increase in tubulin polyglutamylation during postnatalneuronal maturation (By similarity).{ECO:0000250|UniProtKB:A4Q9F0, ECO:0000269|PubMed:25959773}. | 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}. |
| 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 TTLL7_MCOLN2 |
| 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 TTLL7_MCOLN2 |
| 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 |
| TTLL7 | CUL4B, APP, ZDHHC17, MEF2A, CSNK2A2, ZMYM1, CSNK2A1 | MCOLN2 | MCOLN3 |
| - 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 TTLL7_MCOLN2 |
| 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 TTLL7_MCOLN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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