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Fusion gene ID: 28327 |
FusionGeneSummary for PPP1R13B_L2HGDH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R13B_L2HGDH | Fusion gene ID: 28327 | Hgene | Tgene | Gene symbol | PPP1R13B | L2HGDH | Gene ID | 23368 | 79944 |
| Gene name | protein phosphatase 1 regulatory subunit 13B | L-2-hydroxyglutarate dehydrogenase | |
| Synonyms | ASPP1|p53BP2-like|p85 | C14orf160|L2HGA | |
| Cytomap | 14q32.33 | 14q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | apoptosis-stimulating of p53 protein 1apoptosis-stimulating protein of p53, 1protein phosphatase 1, regulatory (inhibitor) subunit 13B | L-2-hydroxyglutarate dehydrogenase, mitochondrial2-hydroxyglutarate dehydrogenaseL-alpha-hydroxyglutarate dehydrogenasealpha-hydroxyglutarate oxidoreductasealpha-ketoglutarate reductaseduranin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96KQ4 | Q9H9P8 | |
| Ensembl transtripts involved in fusion gene | ENST00000202556, ENST00000423488, ENST00000555391, | ENST00000261699, ENST00000267436, ENST00000421284, ENST00000555423, ENST00000555610, ENST00000556393, | |
| Fusion gene scores | * DoF score | 8 X 3 X 6=144 | 6 X 5 X 4=120 |
| # samples | 9 | 6 | |
| ** MAII score | log2(9/144*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPP1R13B [Title/Abstract] AND L2HGDH [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 | PPP1R13B | GO:0072332 | intrinsic apoptotic signaling pathway by p53 class mediator | 11684014 |
| Tgene | L2HGDH | GO:0044267 | cellular protein metabolic process | 16005139 |
| 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 | ESCA | TCGA-JY-A6FH-01A | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| * 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 | ENST00000202556 | ENST00000261699 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| In-frame | ENST00000202556 | ENST00000267436 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| In-frame | ENST00000202556 | ENST00000421284 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| In-frame | ENST00000202556 | ENST00000555423 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| Frame-shift | ENST00000202556 | ENST00000555610 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| 5CDS-intron | ENST00000202556 | ENST00000556393 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000423488 | ENST00000261699 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000423488 | ENST00000267436 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000423488 | ENST00000421284 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000423488 | ENST00000555423 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000423488 | ENST00000555610 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-intron | ENST00000423488 | ENST00000556393 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000555391 | ENST00000261699 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000555391 | ENST00000267436 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000555391 | ENST00000421284 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000555391 | ENST00000555423 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-3CDS | ENST00000555391 | ENST00000555610 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
| intron-intron | ENST00000555391 | ENST00000556393 | PPP1R13B | chr14 | 104313636 | - | L2HGDH | chr14 | 50750751 | - |
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FusionProtFeatures for PPP1R13B_L2HGDH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R13B | L2HGDH |
| Regulator that plays a central role in regulation ofapoptosis via its interaction with p53/TP53. Regulates TP53 byenhancing the DNA binding and transactivation function of TP53 onthe promoters of proapoptotic genes in vivo.{ECO:0000269|PubMed:11684014}. |
| 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 |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:50750751 | ENST00000202556 | - | 1 | 17 | 132_292 | 3 | 1091 | Compositional bias | Note=Gln-rich |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:50750751 | ENST00000202556 | - | 1 | 17 | 428_860 | 3 | 1091 | Compositional bias | Note=Pro-rich |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:50750751 | ENST00000202556 | - | 1 | 17 | 1019_1081 | 3 | 1091 | Domain | SH3 |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:50750751 | ENST00000202556 | - | 1 | 17 | 920_952 | 3 | 1091 | Repeat | Note=ANK 1 |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:50750751 | ENST00000202556 | - | 1 | 17 | 953_985 | 3 | 1091 | Repeat | Note=ANK 2 |
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FusionGeneSequence for PPP1R13B_L2HGDH |
| 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_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000261699_chr14_50750751_-_265aa MMPGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRIS ELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000267436_chr14_50750751_-_287aa MMPGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRIS ELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL IKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSI >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000421284_chr14_50750751_-_287aa MMPGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRIS ELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL IKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSI >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000555423_chr14_50750751_-_60aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000261699_chr14_50750751_-_795nt ATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAA GAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGGAATGCAA TATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTCAGACCGTATTTCA GAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAA GGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTATTTGGCTAGGGCCT AATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTATCAATAGTGGCTTG ATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAAGTATCTTCAAAAA TTCATCCCTGAAATTACTATCAGTGATATACTTAGGCAGGTGGCTGTGAGAGGACCGAGCTGGCTATGGCAGCAACCCATGAAAGTGAGT >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000267436_chr14_50750751_-_861nt ATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAA GAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGGAATGCAA TATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTCAGACCGTATTTCA GAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAA GGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTATTTGGCTAGGGCCT AATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTATCAATAGTGGCTTG ATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAAGTATCTTCAAAAA TTCATCCCTGAAATTACTATCAGTGATATACTTAGGGGCCCAGCTGGAGTAAGAGCCCAGGCCCTGGATAGAGATGGAAATCTGGTAGAA GATTTTGTATTTGATGCAGGAGTTGGGGATATTGGAAATCGCATTCTTCATGTGAGAAATGCACCTTCTCCTGCTGCTACTTCTTCCATT >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000421284_chr14_50750751_-_861nt ATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAA GAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGGAATGCAA TATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTCAGACCGTATTTCA GAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAA GGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTATTTGGCTAGGGCCT AATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTATCAATAGTGGCTTG ATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAAGTATCTTCAAAAA TTCATCCCTGAAATTACTATCAGTGATATACTTAGGGGCCCAGCTGGAGTAAGAGCCCAGGCCCTGGATAGAGATGGAAATCTGGTAGAA GATTTTGTATTTGATGCAGGAGTTGGGGATATTGGAAATCGCATTCTTCATGTGAGAAATGCACCTTCTCCTGCTGCTACTTCTTCCATT >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000555423_chr14_50750751_-_180nt ATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAA GAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGCTGAATAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000261699_chr14_50750751_-_1111nt GGGCGGGCGGGCCGCAGGCTGTCGGGCTGGGGCTGAGGCTGAGGCTGAGGTTGAGGCGGCGGCGGCGGCGGCCGGGTGCCCGGGACAGCG ACGCAGCGCGCCGGCGGCCGCGACAGGGCCAGCGAGAGCCCCGCAGCCCGCCGCAGCTGCCGCCTCGCCGCGGCCGGGCCGGAGAGCACG GCGGCGGGAGCGCGGCCTTAGGAGGCGGCCGGAGCGGTGGGCACAGCTCGGCGCGGAGCGTCCTGTCAGGCGGCGGCCGAGGGCGTCGCG GACTCTCCCCGCGATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGC CCAGGATTTCCAAGAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTAT AGATGGAATGCAATATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTC AGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATG TTATCTTGTAAAAGGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTAT TTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTAT CAATAGTGGCTTGATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAA GTATCTTCAAAAATTCATCCCTGAAATTACTATCAGTGATATACTTAGGCAGGTGGCTGTGAGAGGACCGAGCTGGCTATGGCAGCAACC CATGAAAGTGAGTGATAACAACATTTATTGTTTCCTGTGGCGTTGCTTTGCTTTGCTATTGACTGGTAGCGCTTGTAGCTTTAAATAAAT >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000267436_chr14_50750751_-_2800nt GGGCGGGCGGGCCGCAGGCTGTCGGGCTGGGGCTGAGGCTGAGGCTGAGGTTGAGGCGGCGGCGGCGGCGGCCGGGTGCCCGGGACAGCG ACGCAGCGCGCCGGCGGCCGCGACAGGGCCAGCGAGAGCCCCGCAGCCCGCCGCAGCTGCCGCCTCGCCGCGGCCGGGCCGGAGAGCACG GCGGCGGGAGCGCGGCCTTAGGAGGCGGCCGGAGCGGTGGGCACAGCTCGGCGCGGAGCGTCCTGTCAGGCGGCGGCCGAGGGCGTCGCG GACTCTCCCCGCGATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGC CCAGGATTTCCAAGAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTAT AGATGGAATGCAATATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTC AGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATG TTATCTTGTAAAAGGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTAT TTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTAT CAATAGTGGCTTGATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAA GTATCTTCAAAAATTCATCCCTGAAATTACTATCAGTGATATACTTAGGGGCCCAGCTGGAGTAAGAGCCCAGGCCCTGGATAGAGATGG AAATCTGGTAGAAGATTTTGTATTTGATGCAGGAGTTGGGGATATTGGAAATCGCATTCTTCATGTGAGAAATGCACCTTCTCCTGCTGC TACTTCTTCCATTGCAATTTCTGGAATGATTGCAGATGAAGTACAACAAAGATTTGAATTATAAATAATGAAAGGAGCTAGGTATGCACT GTAATCTTCATGTCAGCAACAAGAATGTACTAATTGCATTCTTTAATTTAAAAAATGGTTTTTAAACTTTAGTTTTTAGGTCAAAGATAA CCACTGCATTGTTAAAATGATGTAACATAGAAATAATAATTTTCTACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCTCAGCT ACTCAGGAGGCTGAGGCAGGAGAATCAATTGAACCGAGCAGACGGAGGTGAGCTGAGAGCTGAGATTGCACCACTGCACTCCAGCCTGGG TGACAGAGCAAGAAAATAATAATAATAATAATTTTCAAAATGTTAGGCTGGGGGCCGTGGCCAGCACTTTGGGAAGCCAAGGCAGGTAGA TTGTAGCCCAGGAGTTTGAGAACAGCCTGGGCAACATGGCAAAACCCTGTTTCTACACAAAGTTAGCTGGGTCTGGTGCCTCTGTAGTTC CAGCTCCTCAGTAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGGTCTAGGCTGCAGTGAGCTTATGTTCATGACACTGCATTCCAGG CTGGATGATAGAGCAAGATCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCCAGCCTGGGCAACATAGTGAATGAAACCCCATCTC TACAAAAAATACAAAAATTAGCTGGGCATGATGGTGTGTGCCTGTAGTCCCAGCTACTTGGGGGCTGAGGCAGGAGGATCGCTTGAGCCC GGGAGATCAAGGCTACAGTGAGCTGTGTTCATGCCACTATACCCCAGCCTGGGCAACAAAGTGAGTCCCTGACTCAAAAAATAAAAACAA CAACAAAAAATAAATTCCATGCTTATTTACTTTGCGAATAAAGAGGCAAGGTACAGTTTTATCTGTCCGAATCCCTGACTTTTATTTATT TTTTTTTTCAGACGGAGTTTCACTCTTGTTGCCCAGGCTTGAGTGCAATGGTACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTC CAGCGATTCTCTTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAG GTGCGAGCCATCATGCTCAGCCCTGAATCCCTGACTTTGTTAATGACCTGTCCTTACCAACCATGACCTAGAGAAGATTTGGCTTTTTAA GAGTTTTGGAGAAAGATGGCATAAAAATAGATTATTTCCTTAAATCAATTTTTTAGCATTACGCTACCTAAGCTCGTTTGGTCTCTCATA GACAAGAAAATACATTATATTGTAGGTTACATTCTTTTAATTTTGAAGAGTCACAAAACTCACATTATTTAGAGCAACAATATTTGTATT TGGAAATTAAAAATTCATGATTTCAAGAAAATACATAAAATTTACATTTTTGAGTAGTTTGAATAAGTTTCTATCTTAATTATAATATTT GTAGGAAATAACAAAACAAACTCAAAGCCTTTATTATTTCCAGTCTCTTTGTAACTGATGTGGTATGGTATCATCATGAAATCTAAACAG >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000421284_chr14_50750751_-_1631nt GGGCGGGCGGGCCGCAGGCTGTCGGGCTGGGGCTGAGGCTGAGGCTGAGGTTGAGGCGGCGGCGGCGGCGGCCGGGTGCCCGGGACAGCG ACGCAGCGCGCCGGCGGCCGCGACAGGGCCAGCGAGAGCCCCGCAGCCCGCCGCAGCTGCCGCCTCGCCGCGGCCGGGCCGGAGAGCACG GCGGCGGGAGCGCGGCCTTAGGAGGCGGCCGGAGCGGTGGGCACAGCTCGGCGCGGAGCGTCCTGTCAGGCGGCGGCCGAGGGCGTCGCG GACTCTCCCCGCGATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGC CCAGGATTTCCAAGAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTAT AGATGGAATGCAATATCCAATTGTTATAAAGAATACAAAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTC AGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCATTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATG TTATCTTGTAAAAGGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTCACACCAAGGATGGATGGCAGTAT TTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGATATAATTAT CAATAGTGGCTTGATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAA GTATCTTCAAAAATTCATCCCTGAAATTACTATCAGTGATATACTTAGGGGCCCAGCTGGAGTAAGAGCCCAGGCCCTGGATAGAGATGG AAATCTGGTAGAAGATTTTGTATTTGATGCAGGAGTTGGGGATATTGGAAATCGCATTCTTCATGTGAGAAATGCACCTTCTCCTGCTGC TACTTCTTCCATTGCAATTTCTGGAATGATTGCAGATGAAGTACAACAAAGATTTGAATTATAAATAATGAAAGGAGCTAGACGGAGTTT CACTCTTGTTGCCCAGGCTTGAGTGCAATGGTACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCTTGCCTCAA CCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGC CAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGCGAGCCATCATGCTCAG CCCTGAATCCCTGACTTTGTTAATGACCTGTCCTTACCAACCATGACCTAGAGAAGATTTGGCTTTTTAAGAGTTTTGGAGAAAGATGGC ATAAAAATAGATTATTTCCTTAAATCAATTTTTTAGCATTACGCTACCTAAGCTCGTTTGGTCTCTCATAGACAAGAAAATACATTATAT >In-frame_PPP1R13B_ENST00000202556_chr14_104313636_-_L2HGDH_ENST00000555423_chr14_50750751_-_517nt GGGCGGGCGGGCCGCAGGCTGTCGGGCTGGGGCTGAGGCTGAGGCTGAGGTTGAGGCGGCGGCGGCGGCGGCCGGGTGCCCGGGACAGCG ACGCAGCGCGCCGGCGGCCGCGACAGGGCCAGCGAGAGCCCCGCAGCCCGCCGCAGCTGCCGCCTCGCCGCGGCCGGGCCGGAGAGCACG GCGGCGGGAGCGCGGCCTTAGGAGGCGGCCGGAGCGGTGGGCACAGCTCGGCGCGGAGCGTCCTGTCAGGCGGCGGCCGAGGGCGTCGCG GACTCTCCCCGCGATGATGCCGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGC CCAGGATTTCCAAGAAGCAGGTGGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTAT |
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FusionGenePPI for PPP1R13B_L2HGDH |
| 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 |
| PPP1R13B | PLEKHA5, APC, CDC5L, CEP63, TNIK, ERBB2, PPP1CA, KHDRBS1, LATS1, LATS2, HRAS, PPP1CC, SIAH2, TRAF1, MIPOL1, CCDC184, MOV10, EP300, TP53, BRCA1, SRGAP3, RASSF8, RASSF7, GSTM3, CCDC85B, CCDC85C, CPVL, PPP1CB, PPP1R10, PPP3CB, RASSF9, PPP1R3A, RASSF10, STAM2, SSX2IP, CEP128, NINL, KHDRBS3, CDH1, SSSCA1, TRIM25 | L2HGDH | A2ML1, TGM1, LCN2, GM2A, CTSV, IVL, KLK10, ATL3, POU5F1, COQ9, COQ5, ITGB8, ACPP, SERPINB4 |
| - 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 PPP1R13B_L2HGDH |
| 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 PPP1R13B_L2HGDH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | L2HGDH | C1855995 | L-2-HYDROXYGLUTARIC ACIDURIA | 3 | ORPHANET;UNIPROT |
| Tgene | L2HGDH | C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | 3 | CTD_human |
| Tgene | L2HGDH | C0014544 | Epilepsy | 1 | CTD_human |
| Tgene | L2HGDH | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| Tgene | L2HGDH | C3714756 | Intellectual Disability | 1 | CTD_human |
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