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Fusion gene ID: 41889 |
FusionGeneSummary for WDR70_AGXT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WDR70_AGXT2 | Fusion gene ID: 41889 | Hgene | Tgene | Gene symbol | WDR70 | AGXT2 | Gene ID | 55100 | 64902 |
| Gene name | WD repeat domain 70 | alanine--glyoxylate aminotransferase 2 | |
| Synonyms | - | AGT2|BAIBA|DAIBAT | |
| Cytomap | 5p13.2 | 5p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | WD repeat-containing protein 70 | alanine--glyoxylate aminotransferase 2, mitochondrial(R)-3-amino-2-methylpropionate--pyruvate transaminasebeta-ALAAT IIbeta-alanine-pyruvate aminotransferase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NW82 | Q9BYV1 | |
| Ensembl transtripts involved in fusion gene | ENST00000265107, ENST00000504564, ENST00000510699, | ENST00000231420, | |
| Fusion gene scores | * DoF score | 13 X 7 X 6=546 | 5 X 3 X 4=60 |
| # samples | 13 | 5 | |
| ** MAII score | log2(13/546*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: WDR70 [Title/Abstract] AND AGXT2 [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 | AGXT2 | GO:0009436 | glyoxylate catabolic process | 20018850 |
| Tgene | AGXT2 | GO:0019265 | glycine biosynthetic process, by transamination of glyoxylate | 20018850 |
| Tgene | AGXT2 | GO:0019481 | L-alanine catabolic process, by transamination | 20018850 |
| Tgene | AGXT2 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 20018850 |
| 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 | SKCM | TCGA-D3-A1Q3-06A | WDR70 | chr5 | 37396672 | + | AGXT2 | chr5 | 35014224 | - |
| * 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 |
| In-frame | ENST00000265107 | ENST00000231420 | WDR70 | chr5 | 37396672 | + | AGXT2 | chr5 | 35014224 | - |
| In-frame | ENST00000504564 | ENST00000231420 | WDR70 | chr5 | 37396672 | + | AGXT2 | chr5 | 35014224 | - |
| intron-3CDS | ENST00000510699 | ENST00000231420 | WDR70 | chr5 | 37396672 | + | AGXT2 | chr5 | 35014224 | - |
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FusionProtFeatures for WDR70_AGXT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WDR70 | AGXT2 |
| Can metabolize asymmetric dimethylarginine (ADMA) viatransamination to alpha-keto-delta-(NN-dimethylguanidino) valericacid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO)synthase, and this activity provides mechanism through which thekidney regulates blood pressure. {ECO:0000269|PubMed:20018850,ECO:0000269|PubMed:23023372, ECO:0000269|PubMed:24586340}. |
| 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 |
| Hgene | WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 148_164 | 164 | 655 | Compositional bias | Note=Glu-rich |
| Hgene | WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 84_113 | 164 | 655 | Compositional bias | Note=Ser-rich |
| - 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 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 180_219 | 164 | 655 | Repeat | Note=WD 1 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 227_268 | 164 | 655 | Repeat | Note=WD 2 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 281_321 | 164 | 655 | Repeat | Note=WD 3 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 330_369 | 164 | 655 | Repeat | Note=WD 4 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 376_415 | 164 | 655 | Repeat | Note=WD 5 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 421_466 | 164 | 655 | Repeat | Note=WD 6 |
| Hgene | >WDR70 | chr5:37396672 | chr5:35014224 | ENST00000265107 | + | 5 | 18 | 469_508 | 164 | 655 | Repeat | Note=WD 7 |
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FusionGeneSequence for WDR70_AGXT2 |
| 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. |
| >In-frame_WDR70_ENST00000265107_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_358aa MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVV RDCSKSSSRDTSSSESEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEEVQTGFGRLGSHFWGFQ THDVLPDIVTMAKGIGNGFPMAAVITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAKLRDEFEI >In-frame_WDR70_ENST00000504564_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_358aa MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVV RDCSKSSSRDTSSSESEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEEVQTGFGRLGSHFWGFQ THDVLPDIVTMAKGIGNGFPMAAVITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAKLRDEFEI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_WDR70_ENST00000265107_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_1074nt ATGGAGCGCTCTGGGCCCAGCGAAGTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTC GGTAAAAAAGCTCGCACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCA AGAGAAAAAGAGGAAGAAATGAACAGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTC AGAGATTGCTCCAAATCATCTTCCAGGGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCT CCTTTACCCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAA GAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGTGCAGACAGGATTTGGAAGGTTGGGCTCTCACTTCTGGGGCTTCCAA ACCCACGATGTCCTGCCTGACATTGTCACCATGGCTAAAGGGATTGGGAATGGCTTTCCCATGGCAGCAGTCATAACCACTCCAGAGATT GCCAAATCTTTGGCGAAATGCCTGCAGCACTTCAACACCTTTGGAGGGAACCCCATGGCCTGTGCCATTGGATCTGCTGTGCTTGAGGTG ATTAAAGAAGAAAATCTACAGGAAAACAGTCAAGAAGTTGGGACCTACATGTTACTAAAGTTTGCTAAGCTGCGGGATGAATTTGAAATT GTTGGAGACGTCCGAGGCAAAGGTCTCATGATAGGCATAGAAATGGTGCAGGATAAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTA AATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGACATTTCGCATTGCGCCCTCAATG >In-frame_WDR70_ENST00000504564_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_1074nt ATGGAGCGCTCTGGGCCCAGCGAAGTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTC GGTAAAAAAGCTCGCACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCA AGAGAAAAAGAGGAAGAAATGAACAGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTC AGAGATTGCTCCAAATCATCTTCCAGGGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCT CCTTTACCCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAA GAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGTGCAGACAGGATTTGGAAGGTTGGGCTCTCACTTCTGGGGCTTCCAA ACCCACGATGTCCTGCCTGACATTGTCACCATGGCTAAAGGGATTGGGAATGGCTTTCCCATGGCAGCAGTCATAACCACTCCAGAGATT GCCAAATCTTTGGCGAAATGCCTGCAGCACTTCAACACCTTTGGAGGGAACCCCATGGCCTGTGCCATTGGATCTGCTGTGCTTGAGGTG ATTAAAGAAGAAAATCTACAGGAAAACAGTCAAGAAGTTGGGACCTACATGTTACTAAAGTTTGCTAAGCTGCGGGATGAATTTGAAATT GTTGGAGACGTCCGAGGCAAAGGTCTCATGATAGGCATAGAAATGGTGCAGGATAAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTA AATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGACATTTCGCATTGCGCCCTCAATG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_WDR70_ENST00000265107_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_1848nt CGCGGTCCCTCTGCGGAAGGCGCCGCTCTTGGCTTCGGCGGCGCCGCTGTAGCTTGAAGGCGGTACTTCCTCCAGCATTTGCCGCAAGTT ATTGGCAAGTTCCCCTGCAGTTGTTTGGGCTGTCCCTGTGGCTGGTTCTGGGGTGTGCGGCCAGCCATGGAGCGCTCTGGGCCCAGCGAA GTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCGGTAAAAAAGCTCGCACATTTGAC TTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCAAGAGAAAAAGAGGAAGAAATGAAC AGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATTGCTCCAAATCATCTTCC AGGGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTACCCCCTAAAATGGTAGGA AAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAGCAGAGGAAGAAGAAGAG GAAGAGGAGGAAGAGGAAGTGCAGACAGGATTTGGAAGGTTGGGCTCTCACTTCTGGGGCTTCCAAACCCACGATGTCCTGCCTGACATT GTCACCATGGCTAAAGGGATTGGGAATGGCTTTCCCATGGCAGCAGTCATAACCACTCCAGAGATTGCCAAATCTTTGGCGAAATGCCTG CAGCACTTCAACACCTTTGGAGGGAACCCCATGGCCTGTGCCATTGGATCTGCTGTGCTTGAGGTGATTAAAGAAGAAAATCTACAGGAA AACAGTCAAGAAGTTGGGACCTACATGTTACTAAAGTTTGCTAAGCTGCGGGATGAATTTGAAATTGTTGGAGACGTCCGAGGCAAAGGT CTCATGATAGGCATAGAAATGGTGCAGGATAAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAG CACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGACATTTCGCATTGCGCCCTCAATGTGCATCACTAAACCAGAAGTTGAT TTTGCAGTAGAAGTATTTCGTTCTGCCTTAACCCAACACATGGAAAGAAGAGCTAAGTAACATTGTCAGAAATAAATAAAACCACAAGTC TCAAGAATTTGCCACGTATGTTCAAGGGTGAATTTGAAGAATTTCAGAACCACTGGTATCCAGAGAAAGCCTGCAGCTCTCCACAGGAGC TGTAAAAGTCATGGTTGACTGCCTACCAACCATATTTGTTAGCAGAGCCCCTCTTATCTTGAGAACTCCATTCTTCAGGGAAAGGATCTC CCTAGCTCAGAGAATAAATCCTAATTAGTTTATGTTAGGTATGGTAATTTGATTCCCCTTTGCAGTGATTGGTTTATGCATGAATATGTG ATGTATTTTTGTCCAGTGAATCTTGAAGAAAAATCTTTTGGTGGAGGTGCCTTCAGGGAAAGTTTTCTTCACCCTCACTCTTCAGTTCAA GAAGAGATGTCTTCTTGTTGCGCTGAGAACACCATATGTTCATGACGAGATTCCTGGCACCATGTCAGCCGGCTTGTAGTCATGAGGACA ACCCTTTTTGGTGAGGTTGGAAGATGGATGGAAGCCAAGTGCTTAGTGATGTCAAAGAAGCACTCACTTAAGCATTCCTGGAGCCACCCT >In-frame_WDR70_ENST00000504564_chr5_37396672_+_AGXT2_ENST00000231420_chr5_35014224_-_1775nt AGCATTTGCCGCAAGTTATTGGCAAGTTCCCCTGCAGTTGTTTGGGCTGTCCCTGTGGCTGGTTCTGGGGTGTGCGGCCAGCCATGGAGC GCTCTGGGCCCAGCGAAGTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCGGTAAAA AAGCTCGCACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCAAGAGAAA AAGAGGAAGAAATGAACAGAGAGAAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATT GCTCCAAATCATCTTCCAGGGATACGAGCAGCAGTGAAAGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTAC CCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGTCCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAG CAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGTGCAGACAGGATTTGGAAGGTTGGGCTCTCACTTCTGGGGCTTCCAAACCCACG ATGTCCTGCCTGACATTGTCACCATGGCTAAAGGGATTGGGAATGGCTTTCCCATGGCAGCAGTCATAACCACTCCAGAGATTGCCAAAT CTTTGGCGAAATGCCTGCAGCACTTCAACACCTTTGGAGGGAACCCCATGGCCTGTGCCATTGGATCTGCTGTGCTTGAGGTGATTAAAG AAGAAAATCTACAGGAAAACAGTCAAGAAGTTGGGACCTACATGTTACTAAAGTTTGCTAAGCTGCGGGATGAATTTGAAATTGTTGGAG ACGTCCGAGGCAAAGGTCTCATGATAGGCATAGAAATGGTGCAGGATAAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGA TCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGACATTTCGCATTGCGCCCTCAATGTGCATCA CTAAACCAGAAGTTGATTTTGCAGTAGAAGTATTTCGTTCTGCCTTAACCCAACACATGGAAAGAAGAGCTAAGTAACATTGTCAGAAAT AAATAAAACCACAAGTCTCAAGAATTTGCCACGTATGTTCAAGGGTGAATTTGAAGAATTTCAGAACCACTGGTATCCAGAGAAAGCCTG CAGCTCTCCACAGGAGCTGTAAAAGTCATGGTTGACTGCCTACCAACCATATTTGTTAGCAGAGCCCCTCTTATCTTGAGAACTCCATTC TTCAGGGAAAGGATCTCCCTAGCTCAGAGAATAAATCCTAATTAGTTTATGTTAGGTATGGTAATTTGATTCCCCTTTGCAGTGATTGGT TTATGCATGAATATGTGATGTATTTTTGTCCAGTGAATCTTGAAGAAAAATCTTTTGGTGGAGGTGCCTTCAGGGAAAGTTTTCTTCACC CTCACTCTTCAGTTCAAGAAGAGATGTCTTCTTGTTGCGCTGAGAACACCATATGTTCATGACGAGATTCCTGGCACCATGTCAGCCGGC TTGTAGTCATGAGGACAACCCTTTTTGGTGAGGTTGGAAGATGGATGGAAGCCAAGTGCTTAGTGATGTCAAAGAAGCACTCACTTAAGC |
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FusionGenePPI for WDR70_AGXT2 |
| 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 |
| WDR70 | WDR48, UBTF, ZC3H18, TSSC4, SIRT1, LMNA, RBPJ, NTRK1, SRPK2, XPO1, CHORDC1, CCT7, TCEANC2, CCT3, ARRB2, PRPF38A | AGXT2 | ALDOB, CYP2E1 |
| - 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 WDR70_AGXT2 |
| 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 | AGXT2 | Q9BYV1 | DB00114 | Pyridoxal Phosphate | Alanine--glyoxylate aminotransferase 2, mitochondrial | small molecule | approved|investigational|nutraceutical |
| Tgene | AGXT2 | Q9BYV1 | DB00145 | Glycine | Alanine--glyoxylate aminotransferase 2, mitochondrial | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for WDR70_AGXT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | AGXT2 | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Tgene | AGXT2 | C0036341 | Schizophrenia | 1 | PSYGENET |
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