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Fusion gene ID: 14619 |
FusionGeneSummary for GHR_GPR68 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GHR_GPR68 | Fusion gene ID: 14619 | Hgene | Tgene | Gene symbol | GHR | GPR68 | Gene ID | 2690 | 8111 |
Gene name | growth hormone receptor | G protein-coupled receptor 68 | |
Synonyms | GHBP|GHIP | AI2A6|GPR12A|OGR1 | |
Cytomap | 5p13.1-p12 | 14q32.11 | |
Type of gene | protein-coding | protein-coding | |
Description | growth hormone receptorGH receptorgrowth hormone binding proteinserum binding proteinsomatotropin receptor | ovarian cancer G-protein coupled receptor 1ovarian cancer G protein-coupled receptor, 1sphingosylphosphorylcholine receptor | |
Modification date | 20180523 | 20180513 | |
UniProtAcc | P10912 | Q15743 | |
Ensembl transtripts involved in fusion gene | ENST00000230882, ENST00000357703, ENST00000537449, ENST00000513625, | ENST00000531499, ENST00000535815, ENST00000238699, ENST00000529300, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 1 X 3=9 |
# samples | 3 | 3 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GHR [Title/Abstract] AND GPR68 [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 |
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 | HNSC | TCGA-HD-A6HZ-01A | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
* 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-5UTR | ENST00000230882 | ENST00000531499 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000230882 | ENST00000535815 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000230882 | ENST00000238699 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000230882 | ENST00000529300 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000357703 | ENST00000531499 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000357703 | ENST00000535815 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000357703 | ENST00000238699 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5CDS-5UTR | ENST00000357703 | ENST00000529300 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5UTR-5UTR | ENST00000537449 | ENST00000531499 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5UTR-5UTR | ENST00000537449 | ENST00000535815 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5UTR-5UTR | ENST00000537449 | ENST00000238699 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
5UTR-5UTR | ENST00000537449 | ENST00000529300 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
intron-5UTR | ENST00000513625 | ENST00000531499 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
intron-5UTR | ENST00000513625 | ENST00000535815 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
intron-5UTR | ENST00000513625 | ENST00000238699 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
intron-5UTR | ENST00000513625 | ENST00000529300 | GHR | chr5 | 42566046 | + | GPR68 | chr14 | 91701523 | - |
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FusionProtFeatures for GHR_GPR68 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GHR | GPR68 |
Receptor for pituitary gland growth hormone involved inregulating postnatal body growth. On ligand binding, couples tothe JAK2/STAT5 pathway (By similarity). {ECO:0000250}. The soluble form (GHBP) acts as a reservoir of growthhormone in plasma and may be a modulator/inhibitor of GHsignaling. Isoform 2 up-regulates the production of GHBP and actsas a negative inhibitor of GH signaling. | Proton-sensing receptor involved in pH homeostasis. Mayrepresents an osteoblastic pH sensor regulating cell-mediatedresponses to acidosis in bone. Mediates its action by associationwith G proteins that stimulates inositol phosphate (IP) productionor Ca(2+) mobilization. The receptor is almost silent at pH 7.8but fully activated at pH 6.8. Function also as a metastasissuppressor gene in prostate cancer (By similarity). {ECO:0000250,ECO:0000269|PubMed:12955148}. |
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 GHR_GPR68 |
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 GHR_GPR68 |
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 |
GHR | SGTA, JAK2, CISH, SOCS1, SOCS3, SOCS2, GH1, PTPN11, SHC1, GRB2, PLCG1, GRB10, STAT3, STAT5B, JAK1, TYK2, BTRC, PTPN2, PTPRB, PTPN1, PTPRH, DUSP7, PTPN9, PTPN3, PTPN13, STUB1, SKP1, GHR, FBXW11, PIK3R2, SRPK2, NCK1, STAT5A, CUL5, NEDD8, RNF7, TCEB1, TCEB2, CUL1, FBXO31, RBX1 | GPR68 |
- 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 GHR_GPR68 |
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 | GHR | P10912 | DB00082 | Pegvisomant | Growth hormone receptor | biotech | approved |
Hgene | GHR | P10912 | DB00052 | Somatotropin | Growth hormone receptor | biotech | approved|investigational |
Hgene | GHR | P10912 | DB09098 | Somatrem | Growth hormone receptor | biotech | approved|investigational|withdrawn |
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RelatedDiseases for GHR_GPR68 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GHR | C0271568 | Laron Syndrome | 12 | CTD_human;ORPHANET;UNIPROT |
Hgene | GHR | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | GHR | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | GHR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | GHR | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | GHR | C1858656 | Short Stature, Idiopathic, Autosomal | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | GPR68 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |