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Fusion gene ID: 10854 |
FusionGeneSummary for EAF2_RGS9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EAF2_RGS9 | Fusion gene ID: 10854 | Hgene | Tgene | Gene symbol | EAF2 | RGS9 | Gene ID | 55840 | 8787 |
| Gene name | ELL associated factor 2 | regulator of G protein signaling 9 | |
| Synonyms | BM040|TRAITS|U19 | PERRS|RGS9L | |
| Cytomap | 3q13.33 | 17q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ELL-associated factor 2testosterone-regulated apoptosis inducer and tumor suppressor protein | regulator of G-protein signaling 9regulator of G-protein signalling 9 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q96CJ1 | O75916 | |
| Ensembl transtripts involved in fusion gene | ENST00000465664, ENST00000273668, ENST00000451944, | ENST00000443584, ENST00000449996, ENST00000262406, ENST00000577186, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 8 X 4=320 |
| # samples | 1 | 9 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/320*10)=-1.83007499855769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EAF2 [Title/Abstract] AND RGS9 [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 | EAF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16114057 |
| 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 | BRCA | TCGA-AO-A03L-01A | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| * 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 |
| 3UTR-3CDS | ENST00000465664 | ENST00000443584 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| 3UTR-3CDS | ENST00000465664 | ENST00000449996 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| 3UTR-3CDS | ENST00000465664 | ENST00000262406 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| 3UTR-intron | ENST00000465664 | ENST00000577186 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| In-frame | ENST00000273668 | ENST00000443584 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| Frame-shift | ENST00000273668 | ENST00000449996 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| Frame-shift | ENST00000273668 | ENST00000262406 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| 5CDS-intron | ENST00000273668 | ENST00000577186 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| In-frame | ENST00000451944 | ENST00000443584 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| Frame-shift | ENST00000451944 | ENST00000449996 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| Frame-shift | ENST00000451944 | ENST00000262406 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
| 5CDS-intron | ENST00000451944 | ENST00000577186 | EAF2 | chr3 | 121554238 | + | RGS9 | chr17 | 63221120 | + |
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FusionProtFeatures for EAF2_RGS9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EAF2 | RGS9 |
| Acts as a transcriptional transactivator of TCEA1elongation activity (By similarity). Acts as a transcriptionaltransactivator of ELL and ELL2 elongation activities. Potentinducer of apoptosis in prostatic and non-prostatic cell lines.Inhibits prostate tumor growth in vivo. {ECO:0000250,ECO:0000269|PubMed:12446457, ECO:0000269|PubMed:12907652,ECO:0000269|PubMed:16006523}. | Inhibits signal transduction by increasing the GTPaseactivity of G protein alpha subunits thereby driving them intotheir inactive GDP-bound form. Binds to GNAT1. Involved inphototransduction; key element in the recovery phase of visualtransduction (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 EAF2_RGS9 |
| 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. |
| >In-frame_EAF2_ENST00000273668_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_198aa MNSAAGFSHLDRRERVLKLGESFEKQPRCAFHTVRSGPAHGSQPPSDRVHRDLHAPVSFXPLLLLLPLPQEAFRLTQPLHPATQHHHLPL THQSGLGELIGLGAERGVQRVHGPPWALCHREQRGLPRHLLASQPAQGPSXGPHGSVLQQVSETRLSGLTCLCQALTQVPCCVPREGAAP >In-frame_EAF2_ENST00000451944_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_198aa MNSAAGFSHLDRRERVLKLGESFEKQPRCAFHTVRSGPAHGSQPPSDRVHRDLHAPVSFXPLLLLLPLPQEAFRLTQPLHPATQHHHLPL THQSGLGELIGLGAERGVQRVHGPPWALCHREQRGLPRHLLASQPAQGPSXGPHGSVLQQVSETRLSGLTCLCQALTQVPCCVPREGAAP |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EAF2_ENST00000273668_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_595nt ATGAATAGCGCAGCGGGATTCTCACACCTAGACCGTCGCGAGCGGGTTCTCAAGTTAGGGGAGAGTTTCGAGAAGCAGCCGCGCTGCGCC TTCCACACTGTGCGCTCCGGGCCAGCACATGGCTCCCAGCCCCCATCTGACCGTGTACACCGGGACCTGCATGCCCCCGTCTCCTTCTAG CCCCTTCTCCTCCTCCTGCCGCTCCCCCAGGAAGCCTTTCGCCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACCATCTGCCCCTC ACCCATCAGAGTGGCCTTGGAGAGCTCATCGGGCTTGGAGCAGAAAGGGGAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCAC CGAGAGCAGCGAGGCCTCCCTCGACACCTCCTGGCCTCGCAGCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTGTCCTTCAGCAG GTTTCTGAGACGAGGCTGTCTGGCCTCACCTGTCTTTGCCAGGCTCTCACCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCT >In-frame_EAF2_ENST00000451944_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_595nt ATGAATAGCGCAGCGGGATTCTCACACCTAGACCGTCGCGAGCGGGTTCTCAAGTTAGGGGAGAGTTTCGAGAAGCAGCCGCGCTGCGCC TTCCACACTGTGCGCTCCGGGCCAGCACATGGCTCCCAGCCCCCATCTGACCGTGTACACCGGGACCTGCATGCCCCCGTCTCCTTCTAG CCCCTTCTCCTCCTCCTGCCGCTCCCCCAGGAAGCCTTTCGCCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACCATCTGCCCCTC ACCCATCAGAGTGGCCTTGGAGAGCTCATCGGGCTTGGAGCAGAAAGGGGAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCAC CGAGAGCAGCGAGGCCTCCCTCGACACCTCCTGGCCTCGCAGCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTGTCCTTCAGCAG GTTTCTGAGACGAGGCTGTCTGGCCTCACCTGTCTTTGCCAGGCTCTCACCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EAF2_ENST00000273668_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_764nt AGCTGCTTCAGGCTGAGGTGGCAGATAGTGAGCGCTGGTGGCGGAGTTAAAGTCAAAGCAGGAGAGTAATTATGAATAGCGCAGCGGGAT TCTCACACCTAGACCGTCGCGAGCGGGTTCTCAAGTTAGGGGAGAGTTTCGAGAAGCAGCCGCGCTGCGCCTTCCACACTGTGCGCTCCG GGCCAGCACATGGCTCCCAGCCCCCATCTGACCGTGTACACCGGGACCTGCATGCCCCCGTCTCCTTCTAGCCCCTTCTCCTCCTCCTGC CGCTCCCCCAGGAAGCCTTTCGCCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACCATCTGCCCCTCACCCATCAGAGTGGCCTTG GAGAGCTCATCGGGCTTGGAGCAGAAAGGGGAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCACCGAGAGCAGCGAGGCCTCC CTCGACACCTCCTGGCCTCGCAGCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTGTCCTTCAGCAGGTTTCTGAGACGAGGCTGT CTGGCCTCACCTGTCTTTGCCAGGCTCTCACCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCTGGGGGACGTGGGCCAGCAG CTGCCACGATTGAAATCCAAGAGAGTAGCAAAGTAAGAACCCGAAGGGGACGTGCCGTATGCATGGGTGGCTGTGGGTGTGCAGGCCTCT >In-frame_EAF2_ENST00000451944_chr3_121554238_+_RGS9_ENST00000443584_chr17_63221120_+_742nt AGATAGTGAGCGCTGGTGGCGGAGTTAAAGTCAAAGCAGGAGAGTAATTATGAATAGCGCAGCGGGATTCTCACACCTAGACCGTCGCGA GCGGGTTCTCAAGTTAGGGGAGAGTTTCGAGAAGCAGCCGCGCTGCGCCTTCCACACTGTGCGCTCCGGGCCAGCACATGGCTCCCAGCC CCCATCTGACCGTGTACACCGGGACCTGCATGCCCCCGTCTCCTTCTAGCCCCTTCTCCTCCTCCTGCCGCTCCCCCAGGAAGCCTTTCG CCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACCATCTGCCCCTCACCCATCAGAGTGGCCTTGGAGAGCTCATCGGGCTTGGAGC AGAAAGGGGAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCACCGAGAGCAGCGAGGCCTCCCTCGACACCTCCTGGCCTCGCA GCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTGTCCTTCAGCAGGTTTCTGAGACGAGGCTGTCTGGCCTCACCTGTCTTTGCCA GGCTCTCACCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCTGGGGGACGTGGGCCAGCAGCTGCCACGATTGAAATCCAAGA GAGTAGCAAAGTAAGAACCCGAAGGGGACGTGCCGTATGCATGGGTGGCTGTGGGTGTGCAGGCCTCTGCATGTGAATATGCATGCTTTG |
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FusionGenePPI for EAF2_RGS9 |
| 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 |
| EAF2 | ELL, TFPT, MED26, ELL2, AFF4, BIRC2, TRIM23, BEND7, EAF1, ELL3, HIF1A, RBBP4, RBBP7, PSME3, XPO1, SIAH2, PIP4K2A | RGS9 | RGS7BP, GNB5, RGS9BP, GNAO1, ADRB2, PRPF40B, RBM25 |
| - 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 EAF2_RGS9 |
| 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 EAF2_RGS9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EAF2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | EAF2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | EAF2 | C0079731 | B-Cell Lymphomas | 1 | CTD_human |
| Hgene | EAF2 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | RGS9 | C0013386 | Dyskinesia, Drug-Induced | 2 | CTD_human |
| Tgene | RGS9 | C0033941 | Psychoses, Substance-Induced | 1 | CTD_human |
| Tgene | RGS9 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | RGS9 | C1842073 | Prolonged Electroretinal Response Suppression | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
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