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Fusion gene ID: 4903 |
FusionGeneSummary for C21orf2_PDXK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C21orf2_PDXK | Fusion gene ID: 4903 | Hgene | Tgene | Gene symbol | C21orf2 | PDXK | Gene ID | 755 | 8566 |
| Gene name | chromosome 21 open reading frame 2 | pyridoxal kinase | |
| Synonyms | LRRC76|RDMS|SMDAX|YF5/A2 | C21orf124|C21orf97|HEL-S-1a|PKH|PNK|PRED79 | |
| Cytomap | 21q22.3 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein C21orf2nuclear encoded mitochondrial protein C21orf2C21orf-HUMF09G8.5leucine rich repeat containing 76leucine-rich repeat-containing protein 76 | pyridoxal kinaseepididymis secretory sperm binding protein Li 1apyridoxal (pyridoxine, vitamin B6) kinasepyridoxamine kinasepyridoxine kinasevitamin B6 kinase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43822 | O00764 | |
| Ensembl transtripts involved in fusion gene | ENST00000339818, ENST00000496321, ENST00000397956, ENST00000325223, | ENST00000398081, ENST00000468090, ENST00000291565, ENST00000327574, ENST00000476313, ENST00000467908, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 4=36 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: C21orf2 [Title/Abstract] AND PDXK [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 | C21orf2 | GO:0042769 | DNA damage response, detection of DNA damage | 26290490 |
| Tgene | PDXK | GO:0008283 | cell proliferation | 10930737 |
| Tgene | 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 |
| ChiTaRS3.1 | L25496 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| * 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 | ENST00000339818 | ENST00000398081 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000339818 | ENST00000468090 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000339818 | ENST00000291565 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000339818 | ENST00000327574 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000339818 | ENST00000476313 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000339818 | ENST00000467908 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000496321 | ENST00000398081 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000496321 | ENST00000468090 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000496321 | ENST00000291565 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000496321 | ENST00000327574 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000496321 | ENST00000476313 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000496321 | ENST00000467908 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000397956 | ENST00000398081 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000397956 | ENST00000468090 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000397956 | ENST00000291565 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000397956 | ENST00000327574 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000397956 | ENST00000476313 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000397956 | ENST00000467908 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000325223 | ENST00000398081 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000325223 | ENST00000468090 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000325223 | ENST00000291565 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-3UTR | ENST00000325223 | ENST00000327574 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000325223 | ENST00000476313 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
| intron-intron | ENST00000325223 | ENST00000467908 | C21orf2 | chr21 | 45749570 | + | PDXK | chr21 | 45157177 | + |
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FusionProtFeatures for C21orf2_PDXK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C21orf2 | PDXK |
| Plays a role in cilia formation and/or maintenance (Bysimilarity). Plays a role in the regulation of cell morphology andcytoskeletal organization (PubMed:21834987). Involved in DNAdamage repair (PubMed:26290490). {ECO:0000250|UniProtKB:Q8C6G1,ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:26290490}. | Required for synthesis of pyridoxal-5-phosphate fromvitamin B6. |
| 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 C21orf2_PDXK |
| 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 C21orf2_PDXK |
| 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 C21orf2_PDXK |
| 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 |
| Tgene | PDXK | O00764 | DB00165 | Pyridoxine | Pyridoxal kinase | small molecule | approved|investigational|nutraceutical|vet_approved |
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RelatedDiseases for C21orf2_PDXK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | C21orf2 | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human |
| Tgene | PDXK | C0038220 | Status Epilepticus | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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