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Fusion gene ID: 30520 |
FusionGeneSummary for RASA2_ZBTB38 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RASA2_ZBTB38 | Fusion gene ID: 30520 | Hgene | Tgene | Gene symbol | RASA2 | ZBTB38 | Gene ID | 5922 | 253461 |
| Gene name | RAS p21 protein activator 2 | zinc finger and BTB domain containing 38 | |
| Synonyms | GAP1M | CIBZ|PPP1R171|ZNF921 | |
| Cytomap | 3q23 | 3q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras GTPase-activating protein 2GTPase-activating protein 1mGTPase-activating protein of RAS | zinc finger and BTB domain-containing protein 38protein phosphatase 1, regulatory subunit 171 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q15283 | Q8NAP3 | |
| Ensembl transtripts involved in fusion gene | ENST00000452898, ENST00000286364, ENST00000509118, | ENST00000514251, ENST00000321464, ENST00000441582, ENST00000512327, | |
| Fusion gene scores | * DoF score | 8 X 6 X 7=336 | 4 X 5 X 3=60 |
| # samples | 10 | 7 | |
| ** MAII score | log2(10/336*10)=-1.74846123300404 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RASA2 [Title/Abstract] AND ZBTB38 [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 |
| Tgene | ZBTB38 | GO:0045892 | negative regulation of transcription, DNA-templated | 16354688|24726359 |
| 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 | BLCA | TCGA-DK-A3IT-01A | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| TCGA | RV | LUAD | TCGA-05-4427-01A | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| * 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 | ENST00000452898 | ENST00000514251 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| Frame-shift | ENST00000452898 | ENST00000321464 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| Frame-shift | ENST00000452898 | ENST00000441582 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| 5CDS-intron | ENST00000452898 | ENST00000512327 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| Frame-shift | ENST00000286364 | ENST00000514251 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| Frame-shift | ENST00000286364 | ENST00000321464 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| Frame-shift | ENST00000286364 | ENST00000441582 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| 5CDS-intron | ENST00000286364 | ENST00000512327 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| intron-3CDS | ENST00000509118 | ENST00000514251 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| intron-3CDS | ENST00000509118 | ENST00000321464 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| intron-3CDS | ENST00000509118 | ENST00000441582 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
| intron-intron | ENST00000509118 | ENST00000512327 | RASA2 | chr3 | 141206058 | + | ZBTB38 | chr3 | 141161231 | + |
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FusionProtFeatures for RASA2_ZBTB38 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RASA2 | ZBTB38 |
| Inhibitory regulator of the Ras-cyclic AMP pathway.Binds inositol tetrakisphosphate (IP4). | Transcriptional regulator with bimodal DNA-bindingspecificity. Binds with a higher affinity to methylated CpGdinucleotides in the consensus sequence 5'-CGCG-3' but can alsobind to E-box elements (5'-CACGTG-3'). Can also bind specificallyto a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role inregulating DNA replication and common fragile sites (CFS)stability in a RBBP6- and MCM10-dependent manner; repressesexpression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptionalactivator. May be involved in the differentiation and/or survivalof late postmitotic neurons (By similarity).{ECO:0000250|UniProtKB:Q5EXX3, ECO:0000269|PubMed:16354688,ECO:0000269|PubMed:24726359}. |
| 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 RASA2_ZBTB38 |
| 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 RASA2_ZBTB38 |
| 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 |
| RASA2 | GAPVD1 | ZBTB38 | RBBP6, CBFA2T3, PDE4DIP, EHMT2, RALBP1, MTUS2, CCDC136, TSGA10, LZTS2, TRIM41, FSD2, KRT40, KRTAP10-7, KRTAP10-9, RPL26L1, YTHDC2, POP1, DDX24, IPO7, SRPK1, PTCD3, STAU1, EIF5B, MYBBP1A, TCOF1, TRIM26, RSBN1L, RSBN1, SIRT1, ZCCHC17, NOC2L, MRPS5, NEMF, MRPS35, ELAVL2, DDX18, RPL15, DHX36, SPTY2D1, SDAD1, LRR1, HIST2H2AB, ZNF689, RPS3A |
| - 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 RASA2_ZBTB38 |
| 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 RASA2_ZBTB38 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RASA2 | C0025202 | melanoma | 2 | CTD_human |
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