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Fusion gene ID: 2666 |
FusionGeneSummary for ARID4B_B3GALNT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID4B_B3GALNT2 | Fusion gene ID: 2666 | Hgene | Tgene | Gene symbol | ARID4B | B3GALNT2 | Gene ID | 51742 | 148789 |
| Gene name | AT-rich interaction domain 4B | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| Synonyms | BCAA|BRCAA1|RBBP1L1|RBP1L1|SAP180 | B3GalNAc-T2|MDDGA11 | |
| Cytomap | 1q42.3 | 1q42.3 | |
| 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 | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2beta-1,3-GalNAc-T2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q4LE39 | Q8NCR0 | |
| Ensembl transtripts involved in fusion gene | ENST00000366603, ENST00000264183, ENST00000349213, ENST00000494543, | ENST00000366600, ENST00000313984, ENST00000494378, | |
| Fusion gene scores | * DoF score | 15 X 13 X 7=1365 | 2 X 2 X 2=8 |
| # samples | 16 | 2 | |
| ** MAII score | log2(16/1365*10)=-3.09275714091985 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ARID4B [Title/Abstract] AND B3GALNT2 [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 | B3GALNT2 | GO:0006493 | protein O-linked glycosylation | 23929950 |
| 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-BH-A203-01A | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| * 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 | ENST00000366603 | ENST00000366600 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000366603 | ENST00000313984 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000366603 | ENST00000494378 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| Frame-shift | ENST00000264183 | ENST00000366600 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000264183 | ENST00000313984 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000264183 | ENST00000494378 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| Frame-shift | ENST00000349213 | ENST00000366600 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000349213 | ENST00000313984 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| 5CDS-intron | ENST00000349213 | ENST00000494378 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| intron-3CDS | ENST00000494543 | ENST00000366600 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| intron-intron | ENST00000494543 | ENST00000313984 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
| intron-intron | ENST00000494543 | ENST00000494378 | ARID4B | chr1 | 235357328 | - | B3GALNT2 | chr1 | 235613655 | - |
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FusionProtFeatures for ARID4B_B3GALNT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID4B | B3GALNT2 |
| Beta-1,3-N-acetylgalactosaminyltransferase thatsynthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyltransferase activity toward any acceptor substrate. Involved inalpha-dystroglycan (DAG1) glycosylation: acts coordinately withGTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus atthe 4-position of protein O-mannose in the biosynthesis of thephosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), acarbohydrate structure present in alpha-dystroglycan, which isrequired for binding laminin G-like domain-containingextracellular proteins with high affinity.{ECO:0000269|PubMed:14724282, ECO:0000269|PubMed:23453667,ECO:0000269|PubMed:23929950}. |
| 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 ARID4B_B3GALNT2 |
| 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 ARID4B_B3GALNT2 |
| 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 |
| ARID4B | SIN3A, HDAC1, HDAC2, SUDS3, SAP130, ING2, RANBP2, ARID4A, SIRT1, ETS1, DDB1, CUL4B, MXD1, CASP1, CTSK, RBBP7, LACC1, LOC101929876, RPS26, SAP30, NTRK1, HIST1H2BG, KIF11, FOXK1, FOXK2, FBXW7, GATAD1, FAM60A, MXD3, ZNF704, PHF23, YAF2, TRIM25 | B3GALNT2 | FBXO6, NXF1, NRG1, IDS, PARP16, AGMAT, SFRP4, CHST8, FBXW7, OS9, EIF2B2, YY1AP1, TAZ, TRIM25 |
| - 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 ARID4B_B3GALNT2 |
| 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 ARID4B_B3GALNT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARID4B | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | B3GALNT2 | C3554638 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | 1 | UNIPROT |
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