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Fusion gene ID: 43537 |
FusionGeneSummary for ZNF626_PHLPP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZNF626_PHLPP1 | Fusion gene ID: 43537 | Hgene | Tgene | Gene symbol | ZNF626 | PHLPP1 | Gene ID | 199777 | 23239 |
| Gene name | zinc finger protein 626 | PH domain and leucine rich repeat protein phosphatase 1 | |
| Synonyms | - | PHLPP|PLEKHE1|PPM3A|SCOP | |
| Cytomap | 19p12 | 18q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein 626CTC-513N18.7 | PH domain leucine-rich repeat-containing protein phosphatase 1PH domain-containing family E member 1SCN circadian oscillatory proteinpleckstrin homology domain containing, family E (with leucine rich repeats) member 1protein phosphatase, Mg2+/Mn2+ dep | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q68DY1 | O60346 | |
| Ensembl transtripts involved in fusion gene | ENST00000601440, ENST00000291750, | ENST00000400316, ENST00000262719, ENST00000588953, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ZNF626 [Title/Abstract] AND PHLPP1 [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 | PHLPP1 | GO:0042981 | regulation of apoptotic process | 20513427 |
| Tgene | PHLPP1 | GO:0046328 | regulation of JNK cascade | 17386267 |
| Tgene | PHLPP1 | GO:1900744 | regulation of p38MAPK cascade | 17386267 |
| 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 | DA250269 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| * 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 | ENST00000601440 | ENST00000400316 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| Frame-shift | ENST00000601440 | ENST00000262719 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| 5CDS-intron | ENST00000601440 | ENST00000588953 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| Frame-shift | ENST00000291750 | ENST00000400316 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| Frame-shift | ENST00000291750 | ENST00000262719 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
| 5CDS-intron | ENST00000291750 | ENST00000588953 | ZNF626 | chr19 | 20844248 | - | PHLPP1 | chr18 | 60562243 | + |
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FusionProtFeatures for ZNF626_PHLPP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZNF626 | PHLPP1 |
| May be involved in transcriptional regulation. | Protein phosphatase involved in regulation of Akt andPKC signaling. Mediates dephosphorylation in the C-terminal domainhydrophobic motif of members of the AGC Ser/Thr protein kinasefamily; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660'of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267,PubMed:18162466). Isoform 2 seems to have a major role inregulating Akt signaling in hippocampal neurons (By similarity).Akt regulates the balance between cell survival and apoptosisthrough a cascade that primarily alters the function oftranscription factors that regulate pro- and antiapoptotic genes.Dephosphorylation of 'Ser-473' of Akt triggers apoptosis andsuppression of tumor growth. Dephosphorylation of PRKCA and PRKCBleads to their destabilization and degradation (PubMed:18162466).Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation andapoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and isinvolved in regulation of cap-dependent translation(PubMed:21986499). Inhibits cancer cell proliferation and may actas a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1inhibiting its kinase activity (PubMed:24530606). May act as anegative regulator of K-Ras signaling in membrane rafts (Bysimilarity). Involved in the hippocampus-dependent long-termmemory formation (By similarity). Involved in circadian control byregulating the consolidation of circadian periodicity afterresetting (By similarity). Involved in development and function ofregulatory T-cells (By similarity). {ECO:0000250|UniProtKB:Q8CHE4,ECO:0000250|UniProtKB:Q9WTR8, ECO:0000269|PubMed:15808505,ECO:0000269|PubMed:17386267, ECO:0000269|PubMed:18162466,ECO:0000269|PubMed:19079341, ECO:0000269|PubMed:21986499,ECO:0000269|PubMed:24530606}. |
| 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 ZNF626_PHLPP1 |
| 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 ZNF626_PHLPP1 |
| 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 |
| ZNF626 | FHL2, ID3 | PHLPP1 | BTRC, CSNK1A1, GSK3B, FKBP5, PPP5C, USP1, SLC9A3R2, SUGT1, PHLPP2, USP12, USP46, MARK2, WDR48, DMWD, SCRIB, RBM15, SNX27, WDR20, AKT1, ELAVL1, SNX6, WBSCR22, EFNB2, RFPL2, HDAC1, MAPK8, BRAP, SLC9A3R1, BAG2, FKBP4, MCMBP, NUDCD3, PPP2R1A, PPP2R2A, RPAP3, AIP, AGTPBP1, NUDC, GLMN, HAVCR2, SKP2, FANCI, TRIM25, STUB1, COA1, IRS4 |
| - 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 ZNF626_PHLPP1 |
| 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 ZNF626_PHLPP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PHLPP1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
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