|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27789 |
FusionGeneSummary for PML_AGBL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PML_AGBL3 | Fusion gene ID: 27789 | Hgene | Tgene | Gene symbol | PML | AGBL3 | Gene ID | 5371 | 340351 |
| Gene name | promyelocytic leukemia | ATP/GTP binding protein like 3 | |
| Synonyms | MYL|PP8675|RNF71|TRIM19 | CCP3 | |
| Cytomap | 15q24.1 | 7q33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein PMLPML/RARA fusionRING finger protein 71probable transcription factor PMLpromyelocytic leukemia proteinpromyelocytic leukemia, inducer oftripartite motif protein TRIM19tripartite motif-containing protein 19 | cytosolic carboxypeptidase 3 | |
| Modification date | 20180523 | 20180403 | |
| UniProtAcc | P29590 | Q8NEM8 | |
| Ensembl transtripts involved in fusion gene | ENST00000395135, ENST00000395132, ENST00000268059, ENST00000354026, ENST00000268058, ENST00000565898, ENST00000569477, ENST00000569965, ENST00000567543, ENST00000435786, ENST00000436891, ENST00000564428, ENST00000359928, ENST00000563500, ENST00000569161, | ENST00000458078, ENST00000436302, ENST00000435976, ENST00000359383, ENST00000494702, | |
| Fusion gene scores | * DoF score | 5 X 10 X 4=200 | 2 X 1 X 2=4 |
| # samples | 27 | 2 | |
| ** MAII score | log2(27/200*10)=0.432959407276106 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: PML [Title/Abstract] AND AGBL3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | PML | GO:0001666 | response to hypoxia | 16915281 |
| Hgene | PML | GO:0030308 | negative regulation of cell growth | 9448006 |
| Hgene | PML | GO:0034097 | response to cytokine | 9412458 |
| Hgene | PML | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 22406621 |
| Hgene | PML | GO:0045087 | innate immune response | 18248090 |
| Hgene | PML | GO:0045892 | negative regulation of transcription, DNA-templated | 9448006 |
| Hgene | PML | GO:0051457 | maintenance of protein location in nucleus | 17332504 |
| Hgene | PML | GO:0065003 | protein-containing complex assembly | 12915590 |
| Hgene | PML | GO:0090398 | cellular senescence | 22002537|22117195|23431171 |
| Hgene | PML | GO:1902187 | negative regulation of viral release from host cell | 18248090 |
| 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 | LD | OV | TCGA-20-1685-01A | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| * 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 |
| Frame-shift | ENST00000395135 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000395135 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395135 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395135 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395135 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000395132 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000395132 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395132 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395132 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000395132 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000268059 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000268059 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268059 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268059 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268059 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000354026 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000354026 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000354026 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000354026 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000354026 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000268058 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000268058 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268058 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268058 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000268058 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000565898 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000565898 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000565898 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000565898 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000565898 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000569477 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000569477 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569477 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569477 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569477 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000569965 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000569965 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569965 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569965 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000569965 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000567543 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000567543 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000567543 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000567543 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000567543 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000435786 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000435786 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000435786 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000435786 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000435786 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000436891 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000436891 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000436891 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000436891 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000436891 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000564428 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000564428 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000564428 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000564428 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000564428 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000359928 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000359928 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000359928 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000359928 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000359928 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000563500 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| Frame-shift | ENST00000563500 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000563500 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000563500 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| 5CDS-intron | ENST00000563500 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| intron-3CDS | ENST00000569161 | ENST00000458078 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| intron-3CDS | ENST00000569161 | ENST00000436302 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| intron-intron | ENST00000569161 | ENST00000435976 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| intron-intron | ENST00000569161 | ENST00000359383 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
| intron-intron | ENST00000569161 | ENST00000494702 | PML | chr15 | 74287282 | + | AGBL3 | chr7 | 134819593 | + |
Top |
FusionProtFeatures for PML_AGBL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PML | AGBL3 |
| Metallocarboxypeptidase that mediates bothdeglutamylation and deaspartylation of target proteins. Catalyzesthe deglutamylation of polyglutamate side chains generated bypost-translational polyglutamylation in proteins such as tubulins.Also removes gene-encoded polyglutamates or polyaspartates fromthe carboxy-terminus of target proteins such as MYLK. Does notshow detyrosinase or deglycylase activities from the carboxy-terminus of tubulin. {ECO:0000269|PubMed:17244817}. Isoform 2: Metallocarboxypeptidase that mediates tubulindeglutamylation. {ECO:0000269|PubMed:25103237}. |
| 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 |
Top |
FusionGeneSequence for PML_AGBL3 |
| 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). |
Top |
FusionGenePPI for PML_AGBL3 |
| 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 |
| PML | GATA2, TDG, CHFR, DAXX, SMAD3, SMAD2, ZFYVE9, MAPK11, MDM2, RPL11, MYB, ANKRD2, TP53, TRIM69, TOPBP1, CCNT1, SRF, CREBBP, SUMO1, NCOR2, SIN3A, NCOR1, HDAC1, SKI, HDAC3, HDAC2, PML, RARA, RXRA, TRIM24, RB1, EIF4E, RELA, HHEX, NR4A1, STAT3, JUN, FOS, ATF2, UBE2I, BCL6, ZBTB16, SP1, ARNT, TRIM27, PLAGL1, UBE2U, NR2C1, KAT5, SATB1, TERT, NR3C1, POLR2E, PPARG, MED7, PCBD2, CHD4, SAP25, ZNF506, FOXO1, HDAC7, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, RUNX1, SIAH1, SF1, SMARCA4, KLHL20, SPI1, BANP, UBE3A, TGIF1, SP100, PIAS2, SUMO2, SUMO3, AXIN1, MAGEA2, RNF4, SETDB1, PSME3, H2AFX, ATXN3, PIAS1, CSNK2A1, MAF, TERF2IP, ARIH2, USP7, CSNK2B, YAP1, CTNNB1, RANBP2, RBCK1, MAP2K4, FBXO3, CUL1, SKP1, RBX1, PIN1, UHRF1, HIPK2, TOPORS, IKBKE, ZMYM2, SLC1A2, WRN, IER3, RAD51, CHEK2, SYNE2, MAPK3, MAPK1, SIAH2, MYC, ARID3A, RUNX3, RUNX2, PKM, CSNK2A3, PLCG1, ELF4, BCL2, AURKA, SIRT1, TP63, NFATC1, FAS, MTOR, CSNK1D, EZH2, SUZ12, ECT2, MAPK7, CDK1, CDK2, CDK6, RNF111, LMNA, HDAC6, HDAC11, RNF125, KAT6A, PSMA3, CASP8AP2, ADH1B, NFKB1, PLSCR1, SH3GL1, GLIS2, JAK1, ATF7IP, ATXN1, HTT, EHMT2, ATRX, H3F3A, HIRA, ASF1A, NCOA2, EGFR, RPL5, RBL2, E2F4, TBX3, TBX2, PYCARD, SKIL, SENP1, SNX11, RFPL4B, FHL3, ACOT8, PER2, NTRK1, TCF7L2, IFI16, PARK7, DNM2, KRAS, CASC5, FIP1L1, DSN1, SQSTM1, PLOD3, HOMER3, ATP5J2, TOMM20, HMGXB4, WDR5, INTS7, TCTN3, UQCRQ, TBC1D14, COLGALT1, SFXN3, DPH7, C1QTNF6, NANP, EME1, GOLGA6A, TIMM23, MAP1LC3B, GATA1, STAT1, STAT2, NACC1, PPARGC1A, NR1I3, CDKN2A, USP11, NF1, TUBA3C, GOPC, TULP3, KLHL40, NDUFS1, TRIML2, WDR45B, NDUFA2, RNF123, PADI3, ARHGEF16, CDH19, SPTA1, TRIM25, TRIM22, CIITA, CACUL1, PCBP1, TES | AGBL3 |
| - 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 |
Top |
RelatedDrugs for PML_AGBL3 |
| 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 | PML | P29590 | DB01169 | Arsenic trioxide | Protein PML | small molecule | approved|investigational |
Top |
RelatedDiseases for PML_AGBL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PML | C0023487 | Acute Promyelocytic Leukemia | 20 | CTD_human;ORPHANET |
| Hgene | PML | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | PML | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Hgene | PML | C0029401 | Osteitis Deformans | 1 | CTD_human |
| Hgene | PML | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | PML | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Hgene | PML | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|