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Fusion gene ID: 27338 |
FusionGeneSummary for PITPNM3_PELP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PITPNM3_PELP1 | Fusion gene ID: 27338 | Hgene | Tgene | Gene symbol | PITPNM3 | PELP1 | Gene ID | 83394 | 27043 |
| Gene name | PITPNM family member 3 | proline, glutamate and leucine rich protein 1 | |
| Synonyms | ACKR6|CORD5|NIR1|RDGBA3 | MNAR|P160 | |
| Cytomap | 17p13.2-p13.1 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated phosphatidylinositol transfer protein 3NIR-1PITPnm 3PYK2 N-terminal domain-interacting receptor 1atypical chemokine receptor 6cone rod dystrophy 5phosphatidylinositol transfer protein, membrane-associated 3retinal degeneration B | proline-, glutamic acid- and leucine-rich protein 1modulator of non-genomic activity of estrogen receptorproline and glutamic acid rich nuclear proteintranscription factor HMX3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BZ71 | Q8IZL8 | |
| Ensembl transtripts involved in fusion gene | ENST00000421306, ENST00000262483, ENST00000576664, | ENST00000574876, ENST00000572293, ENST00000269230, ENST00000301396, ENST00000436683, ENST00000570823, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 5 X 4 X 6=120 |
| # samples | 4 | 7 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PITPNM3 [Title/Abstract] AND PELP1 [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 | PELP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17505058 |
| Tgene | PELP1 | GO:0071391 | cellular response to estrogen stimulus | 17505058 |
| 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 | ESCA | TCGA-2H-A9GJ-01A | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| * 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 |
| intron-3CDS | ENST00000421306 | ENST00000574876 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000421306 | ENST00000572293 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000421306 | ENST00000269230 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000421306 | ENST00000301396 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-5UTR | ENST00000421306 | ENST00000436683 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-5UTR | ENST00000421306 | ENST00000570823 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| Frame-shift | ENST00000262483 | ENST00000574876 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| Frame-shift | ENST00000262483 | ENST00000572293 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| Frame-shift | ENST00000262483 | ENST00000269230 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| Frame-shift | ENST00000262483 | ENST00000301396 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| 5CDS-5UTR | ENST00000262483 | ENST00000436683 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| 5CDS-5UTR | ENST00000262483 | ENST00000570823 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000576664 | ENST00000574876 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000576664 | ENST00000572293 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000576664 | ENST00000269230 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-3CDS | ENST00000576664 | ENST00000301396 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-5UTR | ENST00000576664 | ENST00000436683 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
| intron-5UTR | ENST00000576664 | ENST00000570823 | PITPNM3 | chr17 | 6428676 | - | PELP1 | chr17 | 4594737 | - |
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FusionProtFeatures for PITPNM3_PELP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PITPNM3 | PELP1 |
| Catalyzes the transfer of phosphatidylinositol andphosphatidylcholine between membranes (in vitro) (By similarity).Binds calcium ions. {ECO:0000250}. | Coactivator of estrogen receptor-mediated transcriptionand a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor(ER) genomic activity when present in the nuclear compartment byactivating the ER target genes in a hormonal stimulation dependentmanner. Can facilitate ER non-genomic signaling via SRC and PI3Kinteraction in the cytosol. Plays a role in E2-mediated cell cycleprogression by interacting with RB1. May have important functionalimplications in ER/growth factor cross-talk. Interacts withseveral growth factor signaling components including EGFR and HRS.Involved in nuclear receptor signaling via its interaction with ARand NR3C1. May promote tumorigenesis via its interaction with andmodulation of several oncogenes including SRC, PI3K, STAT3 andEGFR. Plays a role in cancer cell metastasis via its ability tomodulate E2-mediated cytoskeleton changes and cell migration viaits interaction with SRC and PI3K. Functions as the keystabilizing component of the Five Friends of Methylated CHTOP(5FMC) complex; the 5FMC complex is recruited to ZNF148 bymethylated CHTOP, leading to desumoylation of ZNF148 andsubsequent transactivation of ZNF148 target genes. Component ofthe PELP1 complex involved in the nucleolar steps of 28S rRNAmaturation and the subsequent nucleoplasmic transit of the pre-60Sribosomal subunit. Regulates pre-60S association of the criticalremodeling factor MDN1 (PubMed:21326211).{ECO:0000269|PubMed:11481323, ECO:0000269|PubMed:12415108,ECO:0000269|PubMed:12682072, ECO:0000269|PubMed:14963108,ECO:0000269|PubMed:15374949, ECO:0000269|PubMed:15456770,ECO:0000269|PubMed:15579769, ECO:0000269|PubMed:15994929,ECO:0000269|PubMed:16140940, ECO:0000269|PubMed:16352611,ECO:0000269|PubMed:16574651, ECO:0000269|PubMed:21326211,ECO:0000269|PubMed:22872859}. |
| 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 PITPNM3_PELP1 |
| 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 PITPNM3_PELP1 |
| 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 |
| PITPNM3 | PTK2B, VAPA, VAPB | PELP1 | SRC, AR, RB1, ESR1, EP300, CREBBP, BAG6, TOM1L1, NR4A1, STAT3, SRF, HIST1H3A, HIST2H2AC, HIST2H2BE, HIST1H4A, HIST1H1A, HDAC2, KDM1A, LAS1L, SENP3, SMARCAD1, BLOC1S1, SIRT7, HGS, SNCA, MDN1, ECT2, FN1, SMAD9, MAP1LC3A, IPO5, TEX10, NOL9, WDR18, RPL26, RPL11, SOX2, NFKB1, RPA3, RPA2, RPA1, LGR4, CUL7, OBSL1, RNF2, SUMO2, BCAS3, RPL13, NPM1, RPS2, PIP5K1A, HIST1H2BA, NOLC1, AP3B1, CDK11A, HTATSF1, RUVBL1, NTRK1, IFI16, EWSR1, HERC2, RPL10, FOXQ1, MCM5, PHF19, TRIM25 |
| - 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 PITPNM3_PELP1 |
| 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 PITPNM3_PELP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PITPNM3 | C1832976 | Cone-Rod Dystrophy 5 | 1 | CTD_human;UNIPROT |
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