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Fusion gene ID: 16149 |
FusionGeneSummary for HGS_GNAO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HGS_GNAO1 | Fusion gene ID: 16149 | Hgene | Tgene | Gene symbol | HGS | GNAO1 | Gene ID | 9146 | 2775 |
| Gene name | hepatocyte growth factor-regulated tyrosine kinase substrate | G protein subunit alpha o1 | |
| Synonyms | HRS | EIEE17|G-ALPHA-o|GNAO|HLA-DQB1|NEDIM | |
| Cytomap | 17q25.3 | 16q13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hepatocyte growth factor-regulated tyrosine kinase substratehuman growth factor-regulated tyrosine kinase substrateprotein pp110 | guanine nucleotide-binding protein G(o) subunit alphaGO2-q chimeric G-proteinguanine nucleotide binding protein (G protein), alpha activating activity polypeptide Oguanine nucleotide-binding regulatory protein 2 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O14964 | P09471 | |
| Ensembl transtripts involved in fusion gene | ENST00000329138, | ENST00000262493, ENST00000262494, ENST00000569295, | |
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 7 X 7 X 4=196 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HGS [Title/Abstract] AND GNAO1 [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 | HGS | GO:0046426 | negative regulation of JAK-STAT cascade | 12444102 |
| 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 | LUSC | TCGA-37-3792-01A | HGS | chr17 | 79654125 | + | GNAO1 | chr16 | 56377675 | + |
| * 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-intron | ENST00000329138 | ENST00000262493 | HGS | chr17 | 79654125 | + | GNAO1 | chr16 | 56377675 | + |
| 5CDS-intron | ENST00000329138 | ENST00000262494 | HGS | chr17 | 79654125 | + | GNAO1 | chr16 | 56377675 | + |
| 5CDS-intron | ENST00000329138 | ENST00000569295 | HGS | chr17 | 79654125 | + | GNAO1 | chr16 | 56377675 | + |
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FusionProtFeatures for HGS_GNAO1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HGS | GNAO1 |
| Involved in intracellular signal transduction mediatedby cytokines and growth factors. When associated with STAM, itsuppresses DNA signaling upon stimulation by IL-2 and GM-CSF.Could be a direct effector of PI3-kinase in vesicular pathway viaearly endosomes and may regulate trafficking to early and lateendosomes by recruiting clathrin. May concentrate ubiquitinatedreceptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body(MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0complex binds ubiquitin and acts as sorting machinery thatrecognizes ubiquitinated receptors and transfers them to furthersequential lysosomal sorting/trafficking processes. May contributeto the efficient recruitment of SMADs to the activin receptorcomplex. Involved in receptor recycling via its association withthe CART complex, a multiprotein complex required for efficienttransferrin receptor recycling but not for EGFR degradation. | Guanine nucleotide-binding proteins (G proteins) areinvolved as modulators or transducers in various transmembranesignaling systems. The G(o) protein function is not clear.Stimulated by RGS14. |
| 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 HGS_GNAO1 |
| 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 HGS_GNAO1 |
| 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 |
| HGS | CLTC, HAP1, VPS37C, EXOC7, KRT19, GKAP1, USHBP1, EHMT2, EXOC8, NMI, MIF4GD, LDOC1, CCDC33, BEGAIN, LURAP1, DAZAP2, UBE2I, STAM2, MED7, KRT18, UBQLN1, TADA2A, STAM, TSG101, NF2, DLG4, EPS15, SNX1, PAK1, MAP3K7, LYST, NEDD4, SCAMP3, APP, APLP2, ATP2A2, ARL6IP1, BSG, TIMMDC1, BRINP3, VMP1, SUN2, AHCYL1, CASK, TJP2, HSPA8, MAP3K10, STXBP1, SCRN1, CRMP1, DCTN2, GFAP, MARK4, PPP1R16A, RHOBTB3, TUBB2A, ESRRG, ILKAP, PPP1R7, RSU1, UBA1, ACLY, CBS, DECR1, MAT2A, MTHFD1L, OSBPL5, PLD3, PFKM, HNRNPDL, RPS3A, SF3B3, LINC00265, PTCD3, ZNF302, MEST, TMCC2, ATP1A1, TRAP1, GGA2, TUBB, IL2RB, EGFR, UBC, APC, VPS4A, ITCH, OCLN, GJA1, ABCA1, JAG1, SH3KBP1, ARRB1, IL4R, SCNN1A, NEDD4L, TMEM189, CEP55, TOM1L1, TFRC, INSR, VEGFA, TLR4, CD4, ARMC8, SMAD1, SMAD3, SMAD2, SMAD4, FGFR2, BST2, SMAD5, PELP1, TRAK1, UBQLN4, ATXN1L, GFI1B, VPS35, SNAP25, VAMP2, STX12, SPRY2, ACTN4, TRIM3, MYO5A, CIT, RANGRF, RNF11, GRB2, SNX5, PTPN23, MKNK1, YWHAB, IL2RA, AES, HGH1, SF3A3, SLK, TTC4, REPIN1, WDR77, UBE4B, DTX3L, LRIG1, MET, DGCR6, NPAS2, PITX1, CSTF2, KRT6A, KRT15, KRT31, MAGEB4, SUMO1, KRT38, LITAF, JAKMIP2, ABI2, BCAS2, NDC80, POGZ, CSTF2T, ARFIP2, SNX7, NUP54, CTTNBP2NL, ING5, INTS4, CCDC114, MAPK1IP1L, MRFAP1L1, KRT40, P4HA3, CEP57L1, CCDC103, PEF1, SHMT2, MOV10, NXF1, ADRB2, AVPR2, ARRB2, ARRDC3, NEDD8, SCNN1B, MAP3K1, LAPTM4B, LTBR, SNX2, HNRNPK, SEC23A, SNX12, SNX3, NTRK1, TMEM17, GOLT1B, ROCK1, VPS33B, NOTCH1, SYK, PMEPA1, PTPRN2, HSPBP1, ERBB3 | GNAO1 | RGS19, NGB, DCTN2, CACNA1B, RGS5, RGS16, CRHR1, RGS4, RIC8A, OPRM1, OPRD1, RGS20, GABBR1, RGS9, BAG3, ADRA2A, HOXB5, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, GPR35, GNAI1, GNAI2, GNAI3, SLC30A4, JSRP1, CAMK2A, NTRK1, MED4, PCM1, GNG3, GJB7, CD69, KIFAP3, DUSP22 |
| - 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 HGS_GNAO1 |
| 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 | HGS | O14964 | DB04272 | Citric Acid | Hepatocyte growth factor-regulated tyrosine kinase substrate | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for HGS_GNAO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GNAO1 | C3809606 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 | 4 | UNIPROT |
| Tgene | GNAO1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | GNAO1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
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