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Fusion gene ID: 7241 |
FusionGeneSummary for CIITA_VWA3A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CIITA_VWA3A | Fusion gene ID: 7241 | Hgene | Tgene | Gene symbol | CIITA | VWA3A | Gene ID | 4261 | 146177 |
| Gene name | class II major histocompatibility complex transactivator | von Willebrand factor A domain containing 3A | |
| Synonyms | C2TA|CIITAIV|MHC2TA|NLRA | - | |
| Cytomap | 16p13.13 | 16p12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MHC class II transactivatorMHC class II transactivator type IMHC class II transactivator type IIINLR family, acid domain containingnucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing | von Willebrand factor A domain-containing protein 3A | |
| Modification date | 20180523 | 20180331 | |
| UniProtAcc | P33076 | A6NCI4 | |
| Ensembl transtripts involved in fusion gene | ENST00000324288, ENST00000381835, ENST00000537380, | ENST00000389397, ENST00000389398, ENST00000563755, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 5 X 4=60 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CIITA [Title/Abstract] AND VWA3A [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 | CIITA | GO:0034341 | response to interferon-gamma | 19041327 |
| Hgene | CIITA | GO:0045345 | positive regulation of MHC class I biosynthetic process | 20639463 |
| Hgene | CIITA | GO:0045892 | negative regulation of transcription, DNA-templated | 19041327 |
| Hgene | CIITA | GO:0045893 | positive regulation of transcription, DNA-templated | 19041327 |
| Hgene | CIITA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20639463 |
| Hgene | CIITA | GO:0046677 | response to antibiotic | 107465 |
| 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 | LD | LUAD | TCGA-44-4112-01A | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| * 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 |
| intron-5UTR | ENST00000324288 | ENST00000389397 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-5UTR | ENST00000324288 | ENST00000389398 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-intron | ENST00000324288 | ENST00000563755 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-5UTR | ENST00000381835 | ENST00000389397 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-5UTR | ENST00000381835 | ENST00000389398 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-intron | ENST00000381835 | ENST00000563755 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-5UTR | ENST00000537380 | ENST00000389397 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-5UTR | ENST00000537380 | ENST00000389398 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
| intron-intron | ENST00000537380 | ENST00000563755 | CIITA | chr16 | 10972899 | + | VWA3A | chr16 | 22151475 | + |
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FusionProtFeatures for CIITA_VWA3A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CIITA | VWA3A |
| Essential for transcriptional activity of the HLA classII promoter; activation is via the proximal promoter. No DNAbinding of in vitro translated CIITA was detected. May act in acoactivator-like fashion through protein-protein interactions bycontacting factors binding to the proximal MHC class II promoter,to elements of the transcription machinery, or both. Alternativelyit may activate HLA class II transcription by modifying proteinsthat bind to the MHC class II promoter. Also mediates enhanced MHCclass I transcription; the promoter element requirements forCIITA-mediated transcription are distinct from those ofconstitutive MHC class I transcription, and CIITA can functionallyreplace TAF1 at these genes. Exhibits intrinsic GTP-stimulatedacetyltransferase activity. Exhibits serine/threonine proteinkinase activity: can phosphorylate the TFIID component TAF7, theRAP74 subunit of the general transcription factor TFIIF, histoneH2B at 'Ser-37' and other histones (in vitro).{ECO:0000269|PubMed:11172716, ECO:0000269|PubMed:16600381,ECO:0000269|PubMed:17493635, ECO:0000269|PubMed:24036077}. |
| 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 CIITA_VWA3A |
| 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 CIITA_VWA3A |
| 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 |
| CIITA | NCOA1, RFXANK, RFX5, XPO1, MAPK1, CDK1, MAPK3, HDAC2, HDAC1, SMARCA4, HDAC4, HDAC5, SIN3B, GSK3B, PSMC5, PSMC2, PSMC3, GTF2B, TAF9, CUL3, PPARG, EP300, EP400, TBP, TRIM22, PML, CCNT1 | VWA3A |
| - 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 CIITA_VWA3A |
| 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 CIITA_VWA3A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CIITA | C2931418 | Bare lymphocyte syndrome 2 | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | CIITA | C0001403 | Addison Disease | 1 | CTD_human |
| Tgene | VWA3A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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