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Fusion gene ID: 26595 |
FusionGeneSummary for PDXK_LIN7A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDXK_LIN7A | Fusion gene ID: 26595 | Hgene | Tgene | Gene symbol | PDXK | LIN7A | Gene ID | 8566 | 8825 |
| Gene name | pyridoxal kinase | lin-7 homolog A, crumbs cell polarity complex component | |
| Synonyms | C21orf124|C21orf97|HEL-S-1a|PKH|PNK|PRED79 | LIN-7A|LIN7|MALS-1|MALS1|TIP-33|VELI1 | |
| Cytomap | 21q22.3 | 12q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyridoxal kinaseepididymis secretory sperm binding protein Li 1apyridoxal (pyridoxine, vitamin B6) kinasepyridoxamine kinasepyridoxine kinasevitamin B6 kinase | protein lin-7 homolog Amammalian lin-seven protein 1tax interaction protein 33vertebrate LIN7 homolog 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00764 | O14910 | |
| Ensembl transtripts involved in fusion gene | ENST00000398081, ENST00000468090, ENST00000291565, ENST00000327574, ENST00000476313, ENST00000467908, | ENST00000552864, | |
| Fusion gene scores | * DoF score | 7 X 7 X 8=392 | 12 X 5 X 4=240 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/392*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/240*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDXK [Title/Abstract] AND LIN7A [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 | PDXK | GO:0008283 | cell proliferation | 10930737 |
| Hgene | PDXK | GO:0042823 | pyridoxal phosphate biosynthetic process | 9099727|10987144|17766369 |
| 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 | SARC | TCGA-3B-A9HO-01A | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| * 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 | ENST00000398081 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| intron-3CDS | ENST00000468090 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| Frame-shift | ENST00000291565 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| intron-3CDS | ENST00000327574 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| intron-3CDS | ENST00000476313 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
| Frame-shift | ENST00000467908 | ENST00000552864 | PDXK | chr21 | 45163688 | + | LIN7A | chr12 | 81283148 | - |
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FusionProtFeatures for PDXK_LIN7A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDXK | LIN7A |
| Required for synthesis of pyridoxal-5-phosphate fromvitamin B6. | Plays a role in establishing and maintaining theasymmetric distribution of channels and receptors at the plasmamembrane of polarized cells. Forms membrane-associatedmultiprotein complexes that may regulate delivery and recycling ofproteins to the correct membrane domains. The tripartite complexcomposed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may havethe potential to couple synaptic vesicle exocytosis to celladhesion in brain. Ensures the proper localization of GRIN2B(subunit 2B of the NMDA receptor) to neuronal postsynaptic densityand may function in localizing synaptic vesicles at synapses whereit is recruited by beta-catenin and cadherin. Required to localizeKir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2,ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.{ECO:0000269|PubMed:12967566}. |
| 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 PDXK_LIN7A |
| 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 PDXK_LIN7A |
| 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 |
| PDXK | ELAVL1, CUL3, CUL1, COPS5, CAND1, BARD1, YWHAQ, MOV10, NXF1, ABAT, OGT, EIF4E, EZR, G6PD, HIBADH, HYI, ITPA, MDH1, OAT, SNX2, SOD1, RABIF, TPI1, ATOH1 | LIN7A | KCNJ12, KCNJ4, DLG1, CASK, MPP6, DLG4, GRIN2B, AMOT, APP, MPP5, BAI1, GOLGA2, MPP2, MPP3, ZYX, FAM9B, NOTCH2NL, FAM188A, CADM1, EPB41L2, GUCY1A2, GUCY1B3, INADL, MPDZ, MPP7, PIP4K2B, PXDC1, SLC20A1, SNTB2, CDA, NSUN2 |
| - 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 PDXK_LIN7A |
| 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 |
| Hgene | PDXK | O00764 | DB00165 | Pyridoxine | Pyridoxal kinase | small molecule | approved|investigational|nutraceutical|vet_approved |
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RelatedDiseases for PDXK_LIN7A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDXK | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | LIN7A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | LIN7A | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | LIN7A | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
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