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Fusion gene ID: 8240 |
FusionGeneSummary for CPE_GNAS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CPE_GNAS | Fusion gene ID: 8240 | Hgene | Tgene | Gene symbol | CPE | GNAS | Gene ID | 1363 | 2778 |
| Gene name | carboxypeptidase E | GNAS complex locus | |
| Synonyms | CPH | AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI | |
| Cytomap | 4q32.3 | 20q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase | protein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P16870 | Q5JWF2 | |
| Ensembl transtripts involved in fusion gene | ENST00000402744, | ENST00000313949, ENST00000371098, ENST00000371075, ENST00000371100, ENST00000371099, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000371095, ENST00000371085, ENST00000354359, ENST00000265620, ENST00000306090, ENST00000371081, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 33 X 25 X 8=6600 |
| # samples | 5 | 35 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(35/6600*10)=-4.23703919730085 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CPE [Title/Abstract] AND GNAS [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 | CPE | GO:0016055 | Wnt signaling pathway | 22824791 |
| Hgene | CPE | GO:0072657 | protein localization to membrane | 19166515 |
| 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 | PAAD | TCGA-3A-A9IS-01A | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| * 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 |
| 5CDS-3UTR | ENST00000402744 | ENST00000313949 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-3UTR | ENST00000402744 | ENST00000371098 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-3UTR | ENST00000402744 | ENST00000371075 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-3UTR | ENST00000402744 | ENST00000371100 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000371099 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000371102 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-3UTR | ENST00000402744 | ENST00000464624 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000306120 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000371095 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000371085 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000354359 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000265620 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000306090 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
| 5CDS-intron | ENST00000402744 | ENST00000371081 | CPE | chr4 | 166300680 | + | GNAS | chr20 | 57470667 | + |
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FusionProtFeatures for CPE_GNAS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CPE | GNAS |
| Removes residual C-terminal Arg or Lys remaining afterinitial endoprotease cleavage during prohormone processing.Processes proinsulin. | Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}. |
| 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 CPE_GNAS |
| 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 CPE_GNAS |
| 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 |
| CPE | ROBO2, CHD3, GTF3C1, POLA2, POLDIP2, RPA1, UTP14A, MED31, LRIF1, PRKAA1, NUFIP1, SERPINB11, SIAE, RNASE13, PSG8, SLAMF1, SCGB1D1, PSG1 | GNAS | FSCN1, PAICS, RUVBL1, SHMT2, TTC1, ADCY6, CRHR1, RGS2, SNX13, VIPR1, GNAS, MDM2, CALM1, GNG2, PCK1, ADRB2, AVPR2, TBXA2R, GNB1, GNAQ, GNA11, SLC25A12, LAMTOR1, NUCB1, NUCB2, HLA-A, OPTN, PTGIR, FUS, AXIN1, PANX1, CCDC8, EGFR, JAK3, GNAL, GNG4, TRO, MAGED2, GNB2, GNB4, C1QBP, METAP2, CPT2, YBEY, GNG10, OCIAD1, GNA12, ARMCX3, GNG5, EIF4H, EML2, GIPC1, DIS3, PFAS, NTRK1, RIC8B, CHEK2, HERC2, XPO1, CAT, DBN1, FLNA, MYH9, DNAJC7, SYNPO, THOC2, ELMSAN1, ADCY2, CDC5L, CD47, GLP1R, NAP1L1, MTNR1B, TRIM25 |
| - 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 CPE_GNAS |
| 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 | CPE | P16870 | DB00071 | Insulin Pork | Carboxypeptidase E | biotech | approved |
| Hgene | CPE | P16870 | DB00030 | Insulin Human | Carboxypeptidase E | biotech | approved|investigational |
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RelatedDiseases for CPE_GNAS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CPE | C0028754 | Obesity | 2 | CTD_human |
| Hgene | CPE | C0014130 | Endocrine System Diseases | 1 | CTD_human |
| Hgene | CPE | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | GNAS | C3494506 | Pseudohypoparathyroidism, Type Ia | 13 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GNAS | C0242292 | McCune-Albright Syndrome | 5 | ORPHANET;UNIPROT |
| Tgene | GNAS | C2931404 | Albright's hereditary osteodystrophy | 4 | CTD_human |
| Tgene | GNAS | C0016065 | Polyostotic fibrous dysplasia | 3 | CTD_human;HPO;ORPHANET |
| Tgene | GNAS | C0033806 | Pseudohypoparathyroidism | 3 | CTD_human;HPO |
| Tgene | GNAS | C1857451 | Acth-Independent Macronodular Adrenal Hyperplasia | 3 | ORPHANET;UNIPROT |
| Tgene | GNAS | C0014130 | Endocrine System Diseases | 2 | CTD_human |
| Tgene | GNAS | C0034013 | Precocious Puberty | 2 | CTD_human;HPO |
| Tgene | GNAS | C0221263 | Cafe-au-Lait Spots | 2 | CTD_human |
| Tgene | GNAS | C0001206 | Acromegaly | 1 | CTD_human;HPO |
| Tgene | GNAS | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Tgene | GNAS | C0011573 | Endogenous depression | 1 | PSYGENET |
| Tgene | GNAS | C0019087 | Hemorrhagic Disorders | 1 | CTD_human |
| Tgene | GNAS | C0020538 | Hypertensive disease | 1 | CTD_human;HPO |
| Tgene | GNAS | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | GNAS | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
| Tgene | GNAS | C0027819 | Neuroblastoma | 1 | CTD_human |
| Tgene | GNAS | C0028754 | Obesity | 1 | CTD_human;HPO |
| Tgene | GNAS | C0029396 | Heterotopic Ossification | 1 | CTD_human;HPO |
| Tgene | GNAS | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | GNAS | C0033835 | Pseudopseudohypoparathyroidism | 1 | CTD_human;ORPHANET |
| Tgene | GNAS | C0035204 | Respiration Disorders | 1 | CTD_human |
| Tgene | GNAS | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | GNAS | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Tgene | GNAS | C0039231 | Tachycardia | 1 | CTD_human |
| Tgene | GNAS | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Tgene | GNAS | C0221357 | Brachydactyly | 1 | CTD_human;HPO |
| Tgene | GNAS | C0242184 | Hypoxia | 1 | CTD_human |
| Tgene | GNAS | C0242216 | Biliary calculi | 1 | CTD_human |
| Tgene | GNAS | C0334041 | Osteoma cutis | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GNAS | C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 1 | CTD_human |
| Tgene | GNAS | C2932715 | Pseudohypoparathyroidism Type 1B | 1 | CTD_human;ORPHANET |
| Tgene | GNAS | C2932716 | Pseudohypoparathyroidism Type 1C | 1 | ORPHANET;UNIPROT |
| Tgene | GNAS | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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