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Fusion gene ID: 26614 |
FusionGeneSummary for PDZRN3_FCAMR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDZRN3_FCAMR | Fusion gene ID: 26614 | Hgene | Tgene | Gene symbol | PDZRN3 | FCAMR | Gene ID | 23024 | 83953 |
| Gene name | PDZ domain containing ring finger 3 | Fc fragment of IgA and IgM receptor | |
| Synonyms | LNX3|SEMACAP3|SEMCAP3 | CD351|FCA/MR|FKSG87 | |
| Cytomap | 3p13 | 1q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase PDZRN3RING-type E3 ubiquitin transferase PDZRN3ligand of Numb protein X 3likely ortholog of mouse semaF cytoplasmic domain associated protein 3semaphorin cytoplasmic domain-associated protein 3 | high affinity immunoglobulin alpha and immunoglobulin mu Fc receptorFc alpha/mu receptorFc receptor, IgA, IgM, high affinityimmunity related factorreceptor for Fc fragment of IgA and IgM | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UPQ7 | Q8WWV6 | |
| Ensembl transtripts involved in fusion gene | ENST00000263666, ENST00000466780, ENST00000308537, ENST00000462146, ENST00000535920, ENST00000479530, ENST00000466348, | ENST00000400962, ENST00000324852, ENST00000450945, ENST00000486178, | |
| Fusion gene scores | * DoF score | 8 X 4 X 6=192 | 3 X 2 X 1=6 |
| # samples | 10 | 3 | |
| ** MAII score | log2(10/192*10)=-0.941106310946431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/6*10)=2.32192809488736 | |
| Context | PubMed: PDZRN3 [Title/Abstract] AND FCAMR [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 |
| 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-AR-A0U4-01A | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| * 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 | ENST00000263666 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-5UTR | ENST00000263666 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-intron | ENST00000263666 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-intron | ENST00000263666 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000466780 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000466780 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000466780 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000466780 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-5UTR | ENST00000308537 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-5UTR | ENST00000308537 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-intron | ENST00000308537 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| 5CDS-intron | ENST00000308537 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000462146 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000462146 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000462146 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000462146 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000535920 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000535920 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000535920 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000535920 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000479530 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000479530 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000479530 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000479530 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000466348 | ENST00000400962 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-5UTR | ENST00000466348 | ENST00000324852 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000466348 | ENST00000450945 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
| intron-intron | ENST00000466348 | ENST00000486178 | PDZRN3 | chr3 | 73651505 | - | FCAMR | chr1 | 207143565 | - |
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FusionProtFeatures for PDZRN3_FCAMR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDZRN3 | FCAMR |
| E3 ubiquitin-protein ligase. Plays an important role inregulating the surface level of MUSK on myotubes. Mediates theubiquitination of MUSK, promoting its endocytosis and lysosomaldegradation. Might contribute to terminal myogenicdifferentiation. {ECO:0000250|UniProtKB:Q69ZS0}. | Functions as a receptor for the Fc fragment of IgA andIgM. Binds IgA and IgM with high affinity and mediates theirendocytosis. May function in the immune response to microbesmediated by IgA and IgM. {ECO:0000269|PubMed:11779189}. |
| 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 PDZRN3_FCAMR |
| 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 PDZRN3_FCAMR |
| 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 |
| PDZRN3 | MUSK, UBE2D2, LNX1, LNX2, OIP5, FAM13C, OFD1, SDHA, ZNF785, STX11, POTEB3, FZD4 | FCAMR | TP53 |
| - 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 PDZRN3_FCAMR |
| 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 PDZRN3_FCAMR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDZRN3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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