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Fusion gene ID: 2677 |
FusionGeneSummary for ARID4B_SOX5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID4B_SOX5 | Fusion gene ID: 2677 | Hgene | Tgene | Gene symbol | ARID4B | SOX5 | Gene ID | 51742 | 6660 |
| Gene name | AT-rich interaction domain 4B | SRY-box 5 | |
| Synonyms | BCAA|BRCAA1|RBBP1L1|RBP1L1|SAP180 | L-SOX5|L-SOX5B|L-SOX5F|LAMSHF | |
| Cytomap | 1q42.3 | 12p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AT-rich interactive domain-containing protein 4B180 kDa Sin3-associated polypeptideARID domain-containing protein 4BAT rich interactive domain 4B (RBP1-like)Rb-binding protein homologSIN3A-associated protein 180breast cancer-associated antigen 1bre | transcription factor SOX-5SRY (sex determining region Y)-box 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q4LE39 | P35711 | |
| Ensembl transtripts involved in fusion gene | ENST00000366603, ENST00000264183, ENST00000349213, ENST00000494543, | ENST00000546136, ENST00000381381, ENST00000309359, ENST00000451604, ENST00000537393, ENST00000541536, ENST00000396007, ENST00000545921, ENST00000541847, ENST00000441133, ENST00000536850, | |
| Fusion gene scores | * DoF score | 15 X 13 X 7=1365 | 7 X 7 X 5=245 |
| # samples | 16 | 9 | |
| ** MAII score | log2(16/1365*10)=-3.09275714091985 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/245*10)=-1.4447848426729 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARID4B [Title/Abstract] AND SOX5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 | SOX5 | GO:0032332 | positive regulation of chondrocyte differentiation | 21401405 |
| Tgene | SOX5 | GO:0061036 | positive regulation of cartilage development | 21401405 |
| Tgene | SOX5 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 21401405 |
| Tgene | SOX5 | GO:2000741 | positive regulation of mesenchymal stem cell differentiation | 21401405 |
| 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 | LUSC | TCGA-77-A5GH-01A | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| * 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 |
| In-frame | ENST00000366603 | ENST00000546136 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000366603 | ENST00000381381 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000366603 | ENST00000309359 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000366603 | ENST00000451604 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000366603 | ENST00000537393 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000366603 | ENST00000541536 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000366603 | ENST00000396007 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000366603 | ENST00000545921 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000366603 | ENST00000541847 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000366603 | ENST00000441133 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000366603 | ENST00000536850 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| In-frame | ENST00000264183 | ENST00000546136 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000264183 | ENST00000381381 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000264183 | ENST00000309359 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000264183 | ENST00000451604 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000264183 | ENST00000537393 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-5UTR | ENST00000264183 | ENST00000541536 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000264183 | ENST00000396007 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000264183 | ENST00000545921 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000264183 | ENST00000541847 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000264183 | ENST00000441133 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| 5CDS-intron | ENST00000264183 | ENST00000536850 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-3CDS | ENST00000349213 | ENST00000546136 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000349213 | ENST00000381381 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000349213 | ENST00000309359 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000349213 | ENST00000451604 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000349213 | ENST00000537393 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000349213 | ENST00000541536 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000349213 | ENST00000396007 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000349213 | ENST00000545921 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000349213 | ENST00000541847 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000349213 | ENST00000441133 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000349213 | ENST00000536850 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-3CDS | ENST00000494543 | ENST00000546136 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000494543 | ENST00000381381 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000494543 | ENST00000309359 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000494543 | ENST00000451604 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000494543 | ENST00000537393 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-5UTR | ENST00000494543 | ENST00000541536 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000494543 | ENST00000396007 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000494543 | ENST00000545921 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000494543 | ENST00000541847 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000494543 | ENST00000441133 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
| intron-intron | ENST00000494543 | ENST00000536850 | ARID4B | chr1 | 235377084 | - | SOX5 | chr12 | 24048958 | - |
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FusionProtFeatures for ARID4B_SOX5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID4B | SOX5 |