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Fusion gene ID: 27598 |
FusionGeneSummary for PLEKHA6_MT3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLEKHA6_MT3 | Fusion gene ID: 27598 | Hgene | Tgene | Gene symbol | PLEKHA6 | MT3 | Gene ID | 22874 | 4504 |
| Gene name | pleckstrin homology domain containing A6 | metallothionein 3 | |
| Synonyms | PEPP-3|PEPP3 | GIF|GIFB|GRIF|ZnMT3 | |
| Cytomap | 1q32.1 | 16q13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 6PH domain-containing family A member 6phosphoinositol 3-phosphate-binding protein 3 | metallothionein-3growth inhibitory factormetallothionein 3 (growth inhibitory factor (neurotrophic))metallothionein-III | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y2H5 | P25713 | |
| Ensembl transtripts involved in fusion gene | ENST00000272203, ENST00000414478, ENST00000485632, | ENST00000561640, ENST00000565838, ENST00000200691, ENST00000570176, ENST00000566576, | |
| Fusion gene scores | * DoF score | 13 X 12 X 5=780 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/780*10)=-2.47804729680464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PLEKHA6 [Title/Abstract] AND MT3 [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 | MT3 | GO:0000060 | protein import into nucleus, translocation | 18554677 |
| Tgene | MT3 | GO:0001666 | response to hypoxia | 12763630 |
| Tgene | MT3 | GO:0001934 | positive regulation of protein phosphorylation | 18295594 |
| Tgene | MT3 | GO:0010628 | positive regulation of gene expression | 18295594 |
| Tgene | MT3 | GO:0010940 | positive regulation of necrotic cell death | 15129022|16387743 |
| Tgene | MT3 | GO:0010942 | positive regulation of cell death | 16387743 |
| Tgene | MT3 | GO:0019430 | removal of superoxide radicals | 12383939 |
| Tgene | MT3 | GO:0030308 | negative regulation of cell growth | 16601975|17712581 |
| Tgene | MT3 | GO:0030517 | negative regulation of axon extension | 16601975|17712581 |
| Tgene | MT3 | GO:0030949 | positive regulation of vascular endothelial growth factor receptor signaling pathway | 18295594 |
| Tgene | MT3 | GO:0032148 | activation of protein kinase B activity | 18295594 |
| Tgene | MT3 | GO:0035690 | cellular response to drug | 19536566 |
| Tgene | MT3 | GO:0036091 | positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 18554677 |
| Tgene | MT3 | GO:0043066 | negative regulation of apoptotic process | 15129022|18554677 |
| Tgene | MT3 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 16387743 |
| Tgene | MT3 | GO:0043491 | protein kinase B signaling | 18554677 |
| Tgene | MT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 18295594 |
| Tgene | MT3 | GO:0050821 | protein stabilization | 18295594 |
| Tgene | MT3 | GO:0051354 | negative regulation of oxidoreductase activity | 21320589 |
| Tgene | MT3 | GO:0055069 | zinc ion homeostasis | 18157556 |
| Tgene | MT3 | GO:0055073 | cadmium ion homeostasis | 18157556 |
| Tgene | MT3 | GO:0060547 | negative regulation of necrotic cell death | 18554677 |
| Tgene | MT3 | GO:0070371 | ERK1 and ERK2 cascade | 18554677 |
| Tgene | MT3 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 18295594 |
| Tgene | MT3 | GO:0071276 | cellular response to cadmium ion | 16387743 |
| Tgene | MT3 | GO:0071732 | cellular response to nitric oxide | 18157556 |
| Tgene | MT3 | GO:2000117 | negative regulation of cysteine-type endopeptidase activity | 18554677 |
| Tgene | MT3 | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 18554677 |
| 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 | LGG | TCGA-HT-8104-01A | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| * 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 | ENST00000272203 | ENST00000561640 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3CDS | ENST00000272203 | ENST00000565838 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3CDS | ENST00000272203 | ENST00000200691 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-intron | ENST00000272203 | ENST00000570176 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3UTR | ENST00000272203 | ENST00000566576 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3CDS | ENST00000414478 | ENST00000561640 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3CDS | ENST00000414478 | ENST00000565838 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3CDS | ENST00000414478 | ENST00000200691 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-intron | ENST00000414478 | ENST00000570176 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| 5UTR-3UTR | ENST00000414478 | ENST00000566576 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| intron-3CDS | ENST00000485632 | ENST00000561640 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| intron-3CDS | ENST00000485632 | ENST00000565838 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| intron-3CDS | ENST00000485632 | ENST00000200691 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| intron-intron | ENST00000485632 | ENST00000570176 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
| intron-3UTR | ENST00000485632 | ENST00000566576 | PLEKHA6 | chr1 | 204328822 | - | MT3 | chr16 | 56624752 | + |
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FusionProtFeatures for PLEKHA6_MT3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLEKHA6 | MT3 |
| Binds heavy metals. Contains three zinc and three copperatoms per polypeptide chain and only a negligible amount ofcadmium. Inhibits survival and neurite formation of corticalneurons in vitro. |
| 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 PLEKHA6_MT3 |
| 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 PLEKHA6_MT3 |
| 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 |
| PLEKHA6 | PLEKHA5, APOE, CFTR, MYBPHL, NTRK1, XPO1, CDH1, TRIM25 | MT3 | TERF2IP, TTR |
| - 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 PLEKHA6_MT3 |
| 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 | MT3 | P25713 | DB01593 | Zinc | Metallothionein-3 | small molecule | approved|investigational |
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RelatedDiseases for PLEKHA6_MT3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLEKHA6 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | MT3 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | MT3 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | MT3 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | MT3 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | MT3 | C0036572 | Seizures | 1 | CTD_human |
| Tgene | MT3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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