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Fusion gene ID: 28280 |
FusionGeneSummary for PPP1CB_EIF2B4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1CB_EIF2B4 | Fusion gene ID: 28280 | Hgene | Tgene | Gene symbol | PPP1CB | EIF2B4 | Gene ID | 5500 | 8890 |
| Gene name | protein phosphatase 1 catalytic subunit beta | eukaryotic translation initiation factor 2B subunit delta | |
| Synonyms | HEL-S-80p|NSLH2|PP-1B|PP1B|PP1beta|PPP1CD | EIF-2B|EIF2B|EIF2Bdelta | |
| Cytomap | 2p23.2 | 2p23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase PP1-beta catalytic subunitepididymis secretory sperm binding protein Li 80pprotein phosphatase 1, catalytic subunit, beta isoformprotein phosphatase 1, catalytic subunit, beta isozymeprotein phosphatase 1, catalyti | translation initiation factor eIF-2B subunit deltaeIF-2B GDP-GTP exchange factor subunit deltaeukaryotic translation initiation factor 2B subunit 4 deltaeukaryotic translation initiation factor 2B, subunit 4 delta, 67kDatranslation initiation factor e | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P62140 | Q9UI10 | |
| Ensembl transtripts involved in fusion gene | ENST00000358506, ENST00000296122, ENST00000395366, | ENST00000347454, ENST00000445933, ENST00000451130, ENST00000493344, | |
| Fusion gene scores | * DoF score | 11 X 10 X 8=880 | 1 X 1 X 1=1 |
| # samples | 15 | 1 | |
| ** MAII score | log2(15/880*10)=-2.55254102302878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PPP1CB [Title/Abstract] AND EIF2B4 [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 | PPP1CB | GO:0030155 | regulation of cell adhesion | 20354225 |
| Tgene | EIF2B4 | GO:0006413 | translational initiation | 16289705 |
| Tgene | EIF2B4 | GO:0050852 | T cell receptor signaling pathway | 8626696 |
| 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 | SKCM | TCGA-FS-A4F0-06A | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| * 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 | ENST00000358506 | ENST00000347454 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000358506 | ENST00000445933 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000358506 | ENST00000451130 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| In-frame | ENST00000358506 | ENST00000493344 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000296122 | ENST00000347454 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000296122 | ENST00000445933 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000296122 | ENST00000451130 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| In-frame | ENST00000296122 | ENST00000493344 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000395366 | ENST00000347454 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000395366 | ENST00000445933 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| Frame-shift | ENST00000395366 | ENST00000451130 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
| In-frame | ENST00000395366 | ENST00000493344 | PPP1CB | chr2 | 28975042 | + | EIF2B4 | chr2 | 27587466 | - |
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FusionProtFeatures for PPP1CB_EIF2B4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1CB | EIF2B4 |
| Protein phosphatase that associates with over 200regulatory proteins to form highly specific holoenzymes whichdephosphorylate hundreds of biological targets. Proteinphosphatase (PP1) is essential for cell division, it participatesin the regulation of glycogen metabolism, muscle contractility andprotein synthesis. Involved in regulation of ionic conductancesand long-term synaptic plasticity. Component of the PTW/PP1phosphatase complex, which plays a role in the control ofchromatin structure and cell cycle progression during thetransition from mitosis into interphase. In balance with CSNK1Dand CSNK1E, determines the circadian period length, through theregulation of the speed and rhythmicity of PER1 and PER2phosphorylation. May dephosphorylate CSNK1D and CSNK1E.Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, therebyinactivating FOXP3 and rendering Treg cells functionally defective(PubMed:23396208). {ECO:0000269|PubMed:20516061,ECO:0000269|PubMed:21712997, ECO:0000269|PubMed:23396208}. | Catalyzes the exchange of eukaryotic initiation factor2-bound GDP for GTP. |
| 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 PPP1CB_EIF2B4 |
| 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_PPP1CB_ENST00000358506_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_84aa >In-frame_PPP1CB_ENST00000296122_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_84aa >In-frame_PPP1CB_ENST00000395366_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_84aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PPP1CB_ENST00000358506_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_252nt ATGGCGGACGGGGAGCTGAACGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAACAT GTTGCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGGTG >In-frame_PPP1CB_ENST00000296122_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_252nt ATGGCGGACGGGGAGCTGAACGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAACAT GTTGCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGGTG >In-frame_PPP1CB_ENST00000395366_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_252nt ATGGCGGACGGGGAGCTGAACGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAACAT GTTGCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGGTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PPP1CB_ENST00000358506_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_413nt GCTGCGTGACGCGGCGGCGCGCAAGGGACGTGCGGAGTGAGTGGCGCTGCGGGTGGGGCCGTCGGCGGCGCTGGTGAGAGAACGCCGAGC CGTCGCCGCAGCCTCCGCCGCCGAGAAGCCCTTGTTCCCGCTGCTGGGAAGGAGAGTCTGTGCCGACAAGATGGCGGACGGGGAGCTGAA CGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAACATGTTGCGCTGGCTAACTGGCA GAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGGTGATCACGGAGCTGGGGATGAT >In-frame_PPP1CB_ENST00000296122_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_451nt GGCGCTGGTGAGCTTTGCGGAGCTGGGCGGTGCCGAGGAGGAGGAGGTGGCGGCCTGGGTCTGACGCGGCCCTGTTCGAGGGGGCCTCTC TTGTTTATTTATTTATTTTCCGTGAGAGAACGCCGAGCCGTCGCCGCAGCCTCCGCCGCCGAGAAGCCCTTGTTCCCGCTGCTGGGAAGG AGAGTCTGTGCCGACAAGATGGCGGACGGGGAGCTGAACGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAA TGTAAGCGGGGAGAACATGTTGCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCA GAGCTTGTGGATCTGGTGATCACGGAGCTGGGGATGATCCCTTGCAGTTCTGTACCTGTTGTTCTACGAGTCAAGAGCAGTGACCAGTGA >In-frame_PPP1CB_ENST00000395366_chr2_28975042_+_EIF2B4_ENST00000493344_chr2_27587466_-_525nt GGAGGAGGTGGCGGCCTGGGTCTGACGCGGCCCTGTTCGAGGGGGCCTCTCTTGTTTATTTATTTATTTTCCGTGGGTGCCTCCGAGTGT GCGCGCGCTCTCGCTACCCGGCGGGGAGGGGGTGGGGGGAGGGCCCGGGAAAAGGGGGAGTTGGAGCCGGGGTCGAAACGCCGCGTGACT TGTAGGTGAGAGAACGCCGAGCCGTCGCCGCAGCCTCCGCCGCCGAGAAGCCCTTGTTCCCGCTGCTGGGAAGGAGAGTCTGTGCCGACA AGATGGCGGACGGGGAGCTGAACGTGGACAGCCTCATCACCCGGCTGCTGGAGGATGACCCTGATGATCTGCAATGTAAGCGGGGAGAAC ATGTTGCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGG |
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FusionGenePPI for PPP1CB_EIF2B4 |
| 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 |
| PPP1CB | PPP1R7, PPP1R12A, PPP1R2, PPP1R11, PPP1R8, SH2D4A, TMEM33, NCL, AKAP11, PPP1R15A, SMARCB1, PPP1R9B, RYR2, PTK2, PPP1R12B, BRCA1, NCOR1, TRIM28, HDAC7, INTS1, INTS6, WDR82, TOX4, PPP1R10, UBC, NONO, ELAVL1, SIRT7, BCL2, LBR, CDKN2A, CDC34, CCNB1, CCND1, CCND3, HSPA4, MAX, CUL3, AURKA, PPP1CA, PAPOLA, OGT, HCFC1, KAT8, WDR5, MDM4, ZFYVE9, PAN2, DHX15, MVK, DENR, EEF1A1, NUAK1, PPP1R3C, TP53BP2, CSRNP2, PPP1R16A, PPP1R2P3, EED, AKT1, LUZP4, ABCE1, CSNK2B, DEC1, CLOCK, RORC, PPP1R18, PPP1R13B, PPP1R3A, RASSF7, RASSF8, RASSF9, UNK, DAG1, CPSF1, PPP1CC, SSU72, NTRK1, MED23, CLK1, ACTA1, ACTB, ACTG1, ACTN4, ACTN1, AP2A1, ANXA2, DST, CALM1, CALML3, CAPZA1, CAPZA2, CAPZB, CFL1, CFL2, CLTA, CLTB, DAB2, DAPK3, DBN1, DDX3X, DHX9, CTTN, EPS15, FLII, FLNA, FLNB, HNRNPA2B1, HNRNPH3, ILF3, ABLIM1, LMO7, MYO1B, MYLK, MYO1C, MYO1E, MYO5A, MYO5B, MYO6, PIK3C2A, PLEC, CDK2, MYH9, IQGAP1, MATR3, SYNPO, ASF1A, ANLN, MYO18A, TWF1, SAFB, SIPA1, SPTAN1, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TJP1, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, TPM4, YES1, LUZP1, TAF15, SORBS2, URI1, APOBEC3B, SAFB2, CLINT1, ARHGAP11A, SEC16A, WDR1, ARPC4, ACTR3, ACTR2, ARPC2, RBM6, BASP1, GAS2L1, KHDRBS1, CCT8, PPP1R13L, DSTN, TRIOBP, AKAP2, SIRT2, LIMCH1, SIPA1L3, MPRIP, COBL, SPECC1L, CORO1C, ZDHHC5, PLEKHG3, RAI14, TES, RBMX, ZNF638, RACGAP1, TMOD3, LIMA1, PPP1R12C, PIH1D1, UACA, RIF1, BMP2K, MYO5C, YLPM1, CORO1B, ARHGAP21, NCOA5, AFAP1, ZNF106, INF2, METTL17, MYO19, PDRG1, PPP1R15B, KIAA1671, STON2, SSH2, NEXN, SPECC1, WDR92, MISP, ACTRT1, KIF18B, CDCA2, UBXN2A, GAS2L3, ZNF326, TPRN, RBM12B, RBMXL1, FBXW7, GLI1, USP37, UBXN2B, UBXN1, CCDC85C, GSK3A, GSK3B, LRRC1, PLCL2, SCRIB, SHOC2, PPP1R16B, LMTK2, AATK, SFRP2, SFRP1, SFRP5, RRP1B, C20orf27, KIF18A, POLR2E, WBP11, TLK1, UXT, PQBP1, RPAP3, PACS1, DCAF7, DYNLL2, INTU, PPP2R5C, CD2BP2, TRIM25 | EIF2B4 | EIF2B5, DCC, EIF2B2, EIF2B3, EBNA1BP2, DCP1A, EGFR, VTI1B, EFNB2, STX12, CA14, GPR183, IGSF8, PNKD, P2RX4, OPN3, SPN, PTGER3, SCN2B, PVRL4, EPB41L3, EIF2B1, FTSJ3, EIF2S1, ZNF622, NTRK1, XPO1, HNRNPU, RPL10, XRCC3, NOP56, MTX2, EXOSC4, GYPB, SIGLECL1, TMEM206, EPHA1, SYT1, FZD10, CD4, SMDT1, MCU, BZW2, ARHGDIA, TRIM25, TES |
| - 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 PPP1CB_EIF2B4 |
| 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 PPP1CB_EIF2B4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EIF2B4 | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 3 | ORPHANET;UNIPROT |
| Tgene | EIF2B4 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | EIF2B4 | C1847967 | OVARIOLEUKODYSTROPHY | 1 | CTD_human;ORPHANET |
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