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Fusion gene ID: 26274 |
FusionGeneSummary for PCMTD2_SNX6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCMTD2_SNX6 | Fusion gene ID: 26274 | Hgene | Tgene | Gene symbol | PCMTD2 | SNX6 | Gene ID | 55251 | 58533 |
| Gene name | protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 | sorting nexin 6 | |
| Synonyms | C20orf36 | MSTP010|TFAF2 | |
| Cytomap | 20q13.33 | 14q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein-L-isoaspartate O-methyltransferase domain-containing protein 2 | sorting nexin-6TRAF4-associated factor 2tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9NV79 | Q9UNH7 | |
| Ensembl transtripts involved in fusion gene | ENST00000299468, ENST00000369758, ENST00000609372, ENST00000308824, ENST00000266078, | ENST00000396526, ENST00000396534, ENST00000362031, ENST00000355110, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 4 X 4 X 4=64 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PCMTD2 [Title/Abstract] AND SNX6 [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 | SNX6 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 11279102 |
| Tgene | SNX6 | GO:0045892 | negative regulation of transcription, DNA-templated | 11279102|20830743 |
| 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-AO-A12D-01A | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| * 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 | ENST00000299468 | ENST00000396526 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000299468 | ENST00000396534 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000299468 | ENST00000362031 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000299468 | ENST00000355110 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000369758 | ENST00000396526 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000369758 | ENST00000396534 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000369758 | ENST00000362031 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000369758 | ENST00000355110 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000609372 | ENST00000396526 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000609372 | ENST00000396534 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000609372 | ENST00000362031 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000609372 | ENST00000355110 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000308824 | ENST00000396526 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000308824 | ENST00000396534 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000308824 | ENST00000362031 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| 5CDS-5UTR | ENST00000308824 | ENST00000355110 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000266078 | ENST00000396526 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000266078 | ENST00000396534 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000266078 | ENST00000362031 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
| intron-5UTR | ENST00000266078 | ENST00000355110 | PCMTD2 | chr20 | 62896782 | + | SNX6 | chr14 | 35078948 | - |
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FusionProtFeatures for PCMTD2_SNX6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCMTD2 | SNX6 |
| Involved in several stages of intracellular trafficking.Interacts with membranes phosphatidylinositol 3,4-bisphosphateand/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts inpart as component of the retromer membrane-deforming SNX-BARsubcomplex (PubMed:19935774). The SNX-BAR retromer mediatesretrograde transport of cargo proteins from endosomes to thetrans-Golgi network (TGN) and is involved in endosome-to-plasmamembrane transport for cargo protein recycling. The SNX-BARsubcomplex functions to deform the donor membrane into a tubularprofile called endosome-to-TGN transport carrier (ETC) (Probable).Does not have in vitro vesicle-to-membrane remodeling activity(PubMed:23085988). Involved in retrograde endosome-to-TGNtransport of lysosomal enzyme receptor IGF2R (PubMed:17148574).May function as link between transport vesicles and dynactin(Probable). Negatively regulates retrograde transport of BACE1from the cell surface to the trans-Golgi network(PubMed:20354142). Involved in E-cadherin sorting and degradation;inhibits PIP5K1C isoform 3-mediated E-cadherin degradation(PubMed:24610942). In association with GIT1 involved in EGFRdegradation. Promotes lysosomal degradation of CDKN1B (Bysimilarity). May contribute to transcription regulation(Probable). {ECO:0000250|UniProtKB:Q6P8X1,ECO:0000269|PubMed:17148574, ECO:0000269|PubMed:19935774,ECO:0000269|PubMed:20354142, ECO:0000269|PubMed:23085988,ECO:0000269|PubMed:24610942, ECO:0000303|PubMed:19935774,ECO:0000303|PubMed:20830743, 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 PCMTD2_SNX6 |
| 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 PCMTD2_SNX6 |
| 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 |
| PCMTD2 | TCEB2, TCEB1, CUL5, CUL2, ATP13A2, TRIP13, VAC14, AUP1, SEPT3, MRPS11, PCGF1, DPPA4, NANOG, POU5F1, BRCA1 | SNX6 | PIM1, SNX4, SNX2, BMPR1B, ACVR2B, ACVRL1, SNX1, TGFBR2, TGFBR1, PDGFRA, INSR, EGFR, LEPR, CALM1, DISC1, NDEL1, TNIK, ELAVL1, GIT1, COIL, PHLPP1, BRCA1, CSNK2A2, GTF2A1, H3F3A, RTF1, ANP32E, APEH, ATG7, ATP6V1C1, FAM129B, PAWR, SHMT1, SHMT2, STAT1, TSNAX, VPS29, VPS35, TSN, BRMS1, ESR1, USP46, FAM221A, DNM3, TEAD4, TREML2, FAM43A, CAMKMT, CCNL2, GATS, VAPB, IMPDH2, PCID2, IFI16, HERC2, PTPRR, MTM1, SNX32, POTEB3, TSPYL1, HENMT1, TCTEX1D2, SNRNP27, CCDC102B, USP47, FGB, EPB42 |
| - 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 PCMTD2_SNX6 |
| 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 PCMTD2_SNX6 |
| 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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