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Fusion gene ID: 3549 |
FusionGeneSummary for ATRX_SNTB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATRX_SNTB2 | Fusion gene ID: 3549 | Hgene | Tgene | Gene symbol | ATRX | SNTB2 | Gene ID | 546 | 6645 |
| Gene name | ATRX, chromatin remodeler | syntrophin beta 2 | |
| Synonyms | JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX | D16S2531E|EST25263|SNT2B2|SNT3|SNTL | |
| Cytomap | Xq21.1 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | beta-2-syntrophin59 kDa dystrophin-associated protein A1 basic component 2dystrophin-associated protein A1, 59kD, basic component 2syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)syntrophin-3 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | P46100 | Q13425 | |
| Ensembl transtripts involved in fusion gene | ENST00000373344, ENST00000395603, ENST00000480283, ENST00000373341, | ENST00000336278, ENST00000528525, | |
| Fusion gene scores | * DoF score | 9 X 4 X 6=216 | 4 X 4 X 5=80 |
| # samples | 9 | 6 | |
| ** MAII score | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATRX [Title/Abstract] AND SNTB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | ATRX | GO:0006334 | nucleosome assembly | 20651253 |
| Hgene | ATRX | GO:0006338 | chromatin remodeling | 20651253 |
| 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 | SARC | TCGA-VT-A80G-01A | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| * 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 | ENST00000373344 | ENST00000336278 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| 5CDS-3UTR | ENST00000373344 | ENST00000528525 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| Frame-shift | ENST00000395603 | ENST00000336278 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| 5CDS-3UTR | ENST00000395603 | ENST00000528525 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| 5UTR-3CDS | ENST00000480283 | ENST00000336278 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| 5UTR-3UTR | ENST00000480283 | ENST00000528525 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| Frame-shift | ENST00000373341 | ENST00000336278 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
| 5CDS-3UTR | ENST00000373341 | ENST00000528525 | ATRX | chrX | 76953071 | - | SNTB2 | chr16 | 69304046 | + |
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FusionProtFeatures for ATRX_SNTB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATRX | SNTB2 |
| Adapter protein that binds to and probably organizes thesubcellular localization of a variety of membrane proteins. Maylink various receptors to the actin cytoskeleton and thedystrophin glycoprotein complex. May play a role in the regulationof secretory granules via its interaction with PTPRN. |
| 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 ATRX_SNTB2 |
| 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 ATRX_SNTB2 |
| 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 |
| ATRX | EIF4A2, EZH2, CCSER2, KIAA1377, LUC7L2, PTN, PTPN4, RAD51, SMC1A, CBX5, H3F3A, H3F3B, DAXX, HDAC4, HIST1H3A, WRN, CALM1, SVIL, ZBED1, HIST2H3C, BLM, NEK1, ZNF512B, PRKDC, RAD50, XRCC5, MRE11A, XRCC6, SUPT16H, NBN, SSRP1, HIST1H4J, HIST2H2BE, RPA1, TP53, HIST1H1C, RAD9A, HIST1H2BL, HIST1H2AB, RAD1, PML, NSD1, SUMO2, TMPO, CNOT1, LRRK2, H2AFY, SNW1, ZNF274, TRIM28, SETDB1, BMI1, AURKA, HIST1H4A, WDR1, EAF1, DDX20, NAF1, EIF2AK1, AP3B1, POLD1, RBM14, MFAP1 | SNTB2 | ERBB4, KCNJ12, DMD, UTRN, DGKZ, MAST2, MAST1, SCN5A, PTPRN, ABCA1, MARK2, ELAVL1, UBC, BAI1, ADRA1D, SAV1, CDKN1A, CASK, LURAP1L, DTNBP1, SPZ1, LIN7A, PTEN, XPO1, GOLT1B, TENC1, TNS1, TNS3, SNTG2, NDEL1, RHPN1, HMG20A, CPNE5, CFAP36, COG6, PTRF, FCGR1A, G3BP1 |
| - 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 ATRX_SNTB2 |
| 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 ATRX_SNTB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATRX | C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | 11 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ATRX | C0796003 | Juberg-Marsidi syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ATRX | C0017638 | Glioma | 2 | CTD_human |
| Hgene | ATRX | C0027819 | Neuroblastoma | 2 | CTD_human |
| Hgene | ATRX | C0010417 | Cryptorchidism | 1 | CTD_human;HPO |
| Hgene | ATRX | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | ATRX | C0018273 | Growth Disorders | 1 | CTD_human |
| Hgene | ATRX | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | ATRX | C0030846 | Penile Diseases | 1 | CTD_human |
| Hgene | ATRX | C0039978 | Thoracic Diseases | 1 | CTD_human |
| Hgene | ATRX | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
| Hgene | ATRX | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | ATRX | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
| Hgene | ATRX | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human;HPO |
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