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Fusion gene ID: 30488 |
FusionGeneSummary for RARA_ZNF595 |
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Fusion gene information | Fusion gene name: RARA_ZNF595 | Fusion gene ID: 30488 | Hgene | Tgene | Gene symbol | RARA | ZNF595 | Gene ID | 5914 | 152687 |
Gene name | retinoic acid receptor alpha | zinc finger protein 595 | |
Synonyms | NR1B1|RAR | - | |
Cytomap | 17q21.2 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | retinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2 | zinc finger protein 595 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P10276 | ||
Ensembl transtripts involved in fusion gene | ENST00000254066, ENST00000394089, ENST00000425707, ENST00000394086, ENST00000394081, ENST00000420042, | ENST00000339368, ENST00000509152, ENST00000526473, | |
Fusion gene scores | * DoF score | 29 X 12 X 7=2436 | 7 X 1 X 7=49 |
# samples | 42 | 7 | |
** MAII score | log2(42/2436*10)=-2.53605290024021 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/49*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RARA [Title/Abstract] AND ZNF595 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RARA | GO:0007165 | signal transduction | 2825025 |
Hgene | RARA | GO:0030853 | negative regulation of granulocyte differentiation | 19917671 |
Hgene | RARA | GO:0032689 | negative regulation of interferon-gamma production | 18416830 |
Hgene | RARA | GO:0032720 | negative regulation of tumor necrosis factor production | 18416830 |
Hgene | RARA | GO:0032736 | positive regulation of interleukin-13 production | 18416830 |
Hgene | RARA | GO:0032753 | positive regulation of interleukin-4 production | 18416830 |
Hgene | RARA | GO:0032754 | positive regulation of interleukin-5 production | 18416830 |
Hgene | RARA | GO:0045630 | positive regulation of T-helper 2 cell differentiation | 18416830 |
Hgene | RARA | GO:0045892 | negative regulation of transcription, DNA-templated | 20080953 |
Hgene | RARA | GO:0045893 | positive regulation of transcription, DNA-templated | 18845237|19850744|20080953 |
Hgene | RARA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19850744 |
Hgene | RARA | GO:0071300 | cellular response to retinoic acid | 19917671 |
Hgene | RARA | GO:0071391 | cellular response to estrogen stimulus | 20080953 |
![]() (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 | BRCA | TCGA-AR-A0TX-01A | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000254066 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000254066 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000254066 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000394089 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000394089 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000394089 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000425707 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000425707 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
5CDS-3UTR | ENST00000425707 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394086 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394086 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394086 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394081 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394081 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000394081 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000420042 | ENST00000339368 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000420042 | ENST00000509152 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
intron-3UTR | ENST00000420042 | ENST00000526473 | RARA | chr17 | 38487648 | + | ZNF595 | chr4 | 59323 | + |
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FusionProtFeatures for RARA_ZNF595 |
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Hgene | Tgene |
RARA | ZNF595 |
Receptor for retinoic acid. Retinoic acid receptors bindas heterodimers to their target response elements in response totheir ligands, all-trans or 9-cis retinoic acid, and regulate geneexpression in various biological processes. The RXR/RARheterodimers bind to the retinoic acid response elements (RARE)composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In theabsence of ligand, the RXR-RAR heterodimers associate with amultiprotein complex containing transcription corepressors thatinduce histone acetylation, chromatin condensation andtranscriptional suppression. On ligand binding, the corepressorsdissociate from the receptors and associate with the coactivatorsleading to transcriptional activation. RARA plays an essentialrole in the regulation of retinoic acid-induced germ celldevelopment during spermatogenesis. Has a role in the survival ofearly spermatocytes at the beginning prophase of meiosis. InSertoli cells, may promote the survival and development of earlymeiotic prophase spermatocytes. In concert with RARG, required forskeletal growth, matrix homeostasis and growth plate function (Bysimilarity). {ECO:0000250|UniProtKB:P11416,ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19850744,ECO:0000269|PubMed:20215566}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 RARA_ZNF595 |
![]() (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 RARA_ZNF595 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RARA | NRBF2, ZBTB16, MECR, RXRG, RXRB, NCOA6, GADD45G, GADD45A, NRIP1, KAT2B, HDAC3, HDAC4, TDG, PML, TRIP4, KDM5A, RXRA, POU2F1, NCOR2, NR0B2, BAG1, TADA3, NCOR1, NKX2-1, TRIM24, IRX4, SP1, NPAS2, CLOCK, ARNTL, NR2E3, CCND3, NCOA2, SRC, AJUBA, LIMD1, WTIP, SKI, HR, PIN1, SUV39H1, PSMC5, EP300, PARP1, MED6, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, MED1, NCOA1, HMGA1, RUVBL1, RUNX1, SIAH1, RARA, HDAC2, NCOA3, CREBBP, LRIF1, KLF5, SMARCD3, ARID1A, SPI1, PRDX6, NR1H2, ITGB1BP2, MED25, MAPK6, FOXO1, MAPK1, TRIM32, PHF8, TNIP1, HACE1, SQSTM1, UBQLN1, ARID5A, UBE3A, PRAM1, FAS, PRAME, TBL1XR1, SUZ12, EZH2, USP7, TMEM54, MMS19, AKT1, FN1, WWOX, E2F1, MBD3, MTA2, CBX5, CEBPA, HDAC1, NSD1, TEKT4, SNW1, SIRT1, ACTN4, SRF, MDM2, ZNF131, RARG, RARB, TRIM25 | ZNF595 | JUNB, TRIM28 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RARA_ZNF595 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | RARA | P10276 | DB00210 | Adapalene | Retinoic acid receptor alpha | small molecule | approved |
Hgene | RARA | P10276 | DB00459 | Acitretin | Retinoic acid receptor alpha | small molecule | approved |
Hgene | RARA | P10276 | DB00982 | Isotretinoin | Retinoic acid receptor alpha | small molecule | approved |
Hgene | RARA | P10276 | DB00523 | Alitretinoin | Retinoic acid receptor alpha | small molecule | approved|investigational |
Hgene | RARA | P10276 | DB00799 | Tazarotene | Retinoic acid receptor alpha | small molecule | approved|investigational |
Hgene | RARA | P10276 | DB00755 | Tretinoin | Retinoic acid receptor alpha | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for RARA_ZNF595 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RARA | C0023487 | Acute Promyelocytic Leukemia | 22 | CTD_human;HPO;ORPHANET |
Hgene | RARA | C0036341 | Schizophrenia | 3 | PSYGENET |
Hgene | RARA | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | RARA | C0010701 | Phyllodes Tumor | 1 | CTD_human |
Hgene | RARA | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
Hgene | RARA | C0149940 | Sciatic Neuropathy | 1 | CTD_human |
Hgene | RARA | C0206650 | Fibroadenoma | 1 | CTD_human |
Hgene | RARA | C0525045 | Mood Disorders | 1 | PSYGENET |
Hgene | RARA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | RARA | C2239176 | Liver carcinoma | 1 | CTD_human |