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Fusion gene ID: 19676 |
FusionGeneSummary for LHCGR_GTF2A1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LHCGR_GTF2A1L | Fusion gene ID: 19676 | Hgene | Tgene | Gene symbol | LHCGR | GTF2A1L | Gene ID | 3973 | 11036 |
| Gene name | luteinizing hormone/choriogonadotropin receptor | general transcription factor IIA subunit 1 like | |
| Synonyms | HHG|LCGR|LGR2|LH/CG-R|LH/CGR|LHR|LHRHR|LSH-R|ULG5 | ALF | |
| Cytomap | 2p16.3 | 2p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lutropin-choriogonadotropic hormone receptorhypergonadotropic hypogonadismlutropin/choriogonadotropin receptor | TFIIA-alpha and beta-like factorGTF2A1-like factorTFIIA large subunit isoform ALFTFIIA-alpha/beta-like factorgeneral transcription factor II A, 1-like factorgeneral transcription factor IIA 1-liketestis secretory sperm-binding protein Li 230m | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P22888 | Q9UNN4 | |
| Ensembl transtripts involved in fusion gene | ENST00000420913, ENST00000294954, ENST00000344775, ENST00000405626, ENST00000403273, ENST00000401907, | ENST00000430487, ENST00000403751, ENST00000468326, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: LHCGR [Title/Abstract] AND GTF2A1L [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 | LD | LUAD | TCGA-97-A4M3-01A | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| * 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 |
| intron-3CDS | ENST00000420913 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| intron-3CDS | ENST00000420913 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| intron-intron | ENST00000420913 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000294954 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000294954 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| 5CDS-intron | ENST00000294954 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000344775 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000344775 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| 5CDS-intron | ENST00000344775 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| intron-3CDS | ENST00000405626 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| intron-3CDS | ENST00000405626 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| intron-intron | ENST00000405626 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000403273 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000403273 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| 5CDS-intron | ENST00000403273 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000401907 | ENST00000430487 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| Frame-shift | ENST00000401907 | ENST00000403751 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
| 5CDS-intron | ENST00000401907 | ENST00000468326 | LHCGR | chr2 | 48921363 | - | GTF2A1L | chr2 | 48906474 | + |
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FusionProtFeatures for LHCGR_GTF2A1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LHCGR | GTF2A1L |
| Receptor for lutropin-choriogonadotropic hormone(PubMed:11847099). The activity of this receptor is mediated by Gproteins which activate adenylate cyclase (PubMed:11847099).{ECO:0000269|PubMed:11847099}. | May function as a testis specific transcription factor.Binds DNA in conjunction with GTF2A2 and TBP (the TATA-bindingprotein) and together with GTF2A2, allows mRNA transcription.{ECO:0000269|PubMed:10364255}. |
| 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 LHCGR_GTF2A1L |
| 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 LHCGR_GTF2A1L |
| 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 |
| LHCGR | GIPC1, CGA, ARRB2, MPG | GTF2A1L | TBP, ATF4, CEBPE, EMX1, EMX2, TLX2, HOXA5, HOXC9, HOXC11, MAFG, SIX6, PAX9, HMG20A, RBFOX2, MAFF, TLX3, ZBTB3, NKX2-3, GAB1 |
| - 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 LHCGR_GTF2A1L |
| 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 | LHCGR | P22888 | DB00014 | Goserelin | Lutropin-choriogonadotropic hormone receptor | small molecule | approved |
| Hgene | LHCGR | P22888 | DB00032 | Menotropins | Lutropin-choriogonadotropic hormone receptor | biotech | approved |
| Hgene | LHCGR | P22888 | DB00044 | Lutropin alfa | Lutropin-choriogonadotropic hormone receptor | biotech | approved |
| Hgene | LHCGR | P22888 | DB00097 | Choriogonadotropin alfa | Lutropin-choriogonadotropic hormone receptor | biotech | approved |
| Hgene | LHCGR | P22888 | DB00050 | Cetrorelix | Lutropin-choriogonadotropic hormone receptor | small molecule | approved|investigational |
| Hgene | LHCGR | P22888 | DB06719 | Buserelin | Lutropin-choriogonadotropic hormone receptor | biotech | approved|investigational |
| Hgene | LHCGR | P22888 | DB09126 | Chorionic Gonadotropin (Human) | Lutropin-choriogonadotropic hormone receptor | biotech | approved|vet_approved |
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RelatedDiseases for LHCGR_GTF2A1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LHCGR | C0342549 | Familial Testotoxicosis | 15 | CTD_human;ORPHANET;UNIPROT |
| Hgene | LHCGR | C0266432 | Leydig cell agenesis | 9 | ORPHANET;UNIPROT |
| Hgene | LHCGR | C0023601 | Leydig Cell Tumor | 2 | CTD_human |
| Hgene | LHCGR | C2751824 | 46, XY Disorders of Sex Development | 2 | CTD_human |
| Hgene | LHCGR | C0021364 | Male infertility | 1 | CTD_human;HPO |
| Hgene | LHCGR | C0036875 | Disorders of Sex Development | 1 | CTD_human |
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