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Fusion gene ID: 26596 |
FusionGeneSummary for PDXK_RAD9A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDXK_RAD9A | Fusion gene ID: 26596 | Hgene | Tgene | Gene symbol | PDXK | RAD9A | Gene ID | 8566 | 5883 |
| Gene name | pyridoxal kinase | RAD9 checkpoint clamp component A | |
| Synonyms | C21orf124|C21orf97|HEL-S-1a|PKH|PNK|PRED79 | RAD9 | |
| Cytomap | 21q22.3 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyridoxal kinaseepididymis secretory sperm binding protein Li 1apyridoxal (pyridoxine, vitamin B6) kinasepyridoxamine kinasepyridoxine kinasevitamin B6 kinase | cell cycle checkpoint control protein RAD9ADNA repair exonuclease rad9 homolog ARAD9 homolog AhRAD9 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00764 | Q99638 | |
| Ensembl transtripts involved in fusion gene | ENST00000398081, ENST00000468090, ENST00000291565, ENST00000327574, ENST00000476313, ENST00000467908, | ENST00000307980, ENST00000535644, | |
| Fusion gene scores | * DoF score | 7 X 7 X 8=392 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/392*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PDXK [Title/Abstract] AND RAD9A [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 |
| Tgene | RAD9A | GO:0006974 | cellular response to DNA damage stimulus | 9872989 |
| Tgene | RAD9A | GO:0071479 | cellular response to ionizing radiation | 21659603 |
| 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 |
| ChiTaRS3.1 | BF916410 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| * 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-3UTR | ENST00000398081 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| intron-3UTR | ENST00000398081 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000468090 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000468090 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000291565 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000291565 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| intron-3UTR | ENST00000327574 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| intron-3UTR | ENST00000327574 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| intron-3UTR | ENST00000476313 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| intron-3UTR | ENST00000476313 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000467908 | ENST00000307980 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
| 3UTR-3UTR | ENST00000467908 | ENST00000535644 | PDXK | chr21 | 45179830 | - | RAD9A | chr11 | 67165211 | + |
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FusionProtFeatures for PDXK_RAD9A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDXK | RAD9A |
| Required for synthesis of pyridoxal-5-phosphate fromvitamin B6. | Component of the 9-1-1 cell-cycle checkpoint responsecomplex that plays a major role in DNA repair. The 9-1-1 complexis recruited to DNA lesion upon damage by the RAD17-replicationfactor C (RFC) clamp loader complex. Acts then as a sliding clampplatform on DNA for several proteins involved in long-patch baseexcision repair (LP-BER). The 9-1-1 complex stimulates DNApolymerase beta (POLB) activity by increasing its affinity for the3'-OH end of the primer-template and stabilizes POLB to thosesites where LP-BER proceeds; endonuclease FEN1 cleavage activityon substrates with double, nick, or gap flaps of distinctsequences and lengths; and DNA ligase I (LIG1) on long-patch baseexcision repair substrates. The 9-1-1 complex is necessary for therecruitment of RHNO1 to sites of double-stranded breaks (DSB)occurring during the S phase. RAD9A possesses 3'->5' doublestranded DNA exonuclease activity. Its phosphorylation by PRKCDmay be required for the formation of the 9-1-1 complex.{ECO:0000269|PubMed:10713044, ECO:0000269|PubMed:21659603}. |
| 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_RAD9A |
| 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_RAD9A |
| 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 |
| - 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_RAD9A |
| 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_RAD9A |
| 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 | RAD9A | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
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