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Fusion gene ID: 24812 |
FusionGeneSummary for NR5A1_NR6A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NR5A1_NR6A1 | Fusion gene ID: 24812 | Hgene | Tgene | Gene symbol | NR5A1 | NR6A1 | Gene ID | 2516 | 2649 |
| Gene name | nuclear receptor subfamily 5 group A member 1 | nuclear receptor subfamily 6 group A member 1 | |
| Synonyms | AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXX4|SRXY3|hSF-1 | CT150|GCNF|GCNF1|NR61|RTR|hGCNF|hRTR | |
| Cytomap | 9q33.3 | 9q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | steroidogenic factor 1STF-1adrenal 4 binding proteinfushi tarazu factor homolog 1nuclear receptor AdBP4steroid hormone receptor Ad4BPsteroidogenic factor 1 nuclear receptorsteroidogenic factor-1 | nuclear receptor subfamily 6 group A member 1germ cell nuclear factor variant 1retinoic acid receptor-related testis-associated receptorretinoid receptor-related testis-specific receptor | |
| Modification date | 20180526 | 20180523 | |
| UniProtAcc | Q13285 | Q15406 | |
| Ensembl transtripts involved in fusion gene | ENST00000373588, | ENST00000487099, ENST00000373584, ENST00000416460, ENST00000344523, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 5 X 4=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NR5A1 [Title/Abstract] AND NR6A1 [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 | NR5A1 | GO:0010628 | positive regulation of gene expression | 27378692 |
| Hgene | NR5A1 | GO:2000020 | positive regulation of male gonad development | 21412441 |
| 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 | ACC | TCGA-OR-A5J7-01A | NR5A1 | chr9 | 127262369 | - | NR6A1 | chr9 | 127287152 | - |
| * 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 | ENST00000373588 | ENST00000487099 | NR5A1 | chr9 | 127262369 | - | NR6A1 | chr9 | 127287152 | - |
| Frame-shift | ENST00000373588 | ENST00000373584 | NR5A1 | chr9 | 127262369 | - | NR6A1 | chr9 | 127287152 | - |
| Frame-shift | ENST00000373588 | ENST00000416460 | NR5A1 | chr9 | 127262369 | - | NR6A1 | chr9 | 127287152 | - |
| Frame-shift | ENST00000373588 | ENST00000344523 | NR5A1 | chr9 | 127262369 | - | NR6A1 | chr9 | 127287152 | - |
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FusionProtFeatures for NR5A1_NR6A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NR5A1 | NR6A1 |
| Transcriptional activator. Essential for sexualdifferentiation and formation of the primary steroidogenic tissues(PubMed:27378692). Binds to the Ad4 site found in the promoterregion of steroidogenic P450 genes such as CYP11A, CYP11B andCYP21B. Also regulates the AMH/Muellerian inhibiting substancegene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition byNR5A1 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to theCYP17 promoter and regulates basal and cAMP-dependenttranscriptional activity. Binds phosphatidylcholine (Bysimilarity). Binds phospholipids with a phosphatidylinositol (PI)headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated bythe phosphorylation of NR5A1 by HIPK3 leading to increasedsteroidogenic gene expression upon cAMP signaling pathwaystimulation. {ECO:0000250|UniProtKB:P33242,ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:27378692,ECO:0000269|PubMed:28459839}. | Orphan nuclear receptor. Binds to a response elementcontaining the sequence 5'-TCAAGGTCA-3'. May be involved in theregulation of gene expression in germ cell development duringgametogenesis (By similarity). {ECO:0000250}. |
| 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 NR5A1_NR6A1 |
| 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 NR5A1_NR6A1 |
| 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 |
| NR5A1 | SOX9, NRIP1, ZNF653, GATA4, NR0B1, NCOA1, TRERF1, CTNNB1, PITX1, JUN, GTF2B, SP1, EDF1, CXXC1, CREBBP, ELAVL1, BARD1, EIF4A3, ALYREF, DDX39B, THOC2, RAD54L2, NCK2, UBE2I, TRAPPC2, KRAS | NR6A1 | NR6A1, UIMC1, NSD1, NCOA1, DNMT3L |
| - 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 NR5A1_NR6A1 |
| 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 NR5A1_NR6A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NR5A1 | C3489793 | 46,XY Sex Reversal 3 | 4 | UNIPROT |
| Hgene | NR5A1 | C0018054 | Gonadal Dysgenesis, 46,XY | 3 | CTD_human |
| Hgene | NR5A1 | C3151406 | SPERMATOGENIC FAILURE 8 | 2 | UNIPROT |
| Hgene | NR5A1 | C0001623 | Adrenal gland hypofunction | 1 | CTD_human |
| Hgene | NR5A1 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | NR5A1 | C0021364 | Male infertility | 1 | CTD_human;HPO |
| Hgene | NR5A1 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
| Hgene | NR5A1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | NR5A1 | C0949595 | Gonadal Dysgenesis, 46,XX | 1 | CTD_human;ORPHANET |
| Hgene | NR5A1 | C2751825 | PREMATURE OVARIAN FAILURE 7 (disorder) | 1 | CTD_human;UNIPROT |
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