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Fusion gene ID: 1008 |
FusionGeneSummary for AFF1_TRIM33 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AFF1_TRIM33 | Fusion gene ID: 1008 | Hgene | Tgene | Gene symbol | AFF1 | TRIM33 | Gene ID | 4299 | 51592 |
| Gene name | AF4/FMR2 family member 1 | tripartite motif containing 33 | |
| Synonyms | AF4|MLLT2|PBM1 | ECTO|PTC7|RFG7|TF1G|TIF1G|TIF1GAMMA|TIFGAMMA | |
| Cytomap | 4q21.3-q22.1 | 1p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4 | E3 ubiquitin-protein ligase TRIM33RET-fused gene 7 proteinRING-type E3 ubiquitin transferase TRIM33TIF1-gammaectodermin homologprotein Rfg7transcriptional intermediary factor 1 gamma | |
| Modification date | 20180523 | 20180520 | |
| UniProtAcc | P51825 | Q9UPN9 | |
| Ensembl transtripts involved in fusion gene | ENST00000395146, ENST00000307808, ENST00000544085, ENST00000511996, | ENST00000358465, ENST00000369543, ENST00000450349, ENST00000476908, | |
| Fusion gene scores | * DoF score | 16 X 29 X 8=3712 | 2 X 2 X 1=4 |
| # samples | 40 | 2 | |
| ** MAII score | log2(40/3712*10)=-3.21412480535285 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: AFF1 [Title/Abstract] AND TRIM33 [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 | TRIM33 | GO:0016567 | protein ubiquitination | 19135894 |
| Tgene | TRIM33 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 19135894 |
| Tgene | TRIM33 | GO:0030514 | negative regulation of BMP signaling pathway | 19135894 |
| 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 |
| ChiTaRS3.1 | BF368587 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| * 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-intron | ENST00000395146 | ENST00000358465 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000395146 | ENST00000369543 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000395146 | ENST00000450349 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000395146 | ENST00000476908 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000307808 | ENST00000358465 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000307808 | ENST00000369543 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000307808 | ENST00000450349 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000307808 | ENST00000476908 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000544085 | ENST00000358465 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000544085 | ENST00000369543 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000544085 | ENST00000450349 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000544085 | ENST00000476908 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000511996 | ENST00000358465 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000511996 | ENST00000369543 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000511996 | ENST00000450349 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
| intron-intron | ENST00000511996 | ENST00000476908 | AFF1 | chr4 | 88040933 | + | TRIM33 | chr1 | 115026919 | + |
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FusionProtFeatures for AFF1_TRIM33 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AFF1 | TRIM33 |
| Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4ubiquitination, nuclear exclusion and degradation via theubiquitin proteasome pathway. According to PubMed:16751102, doesnot promote a decrease in the level of endogenous SMAD4. May actas a transcriptional repressor. Inhibits the transcriptionalresponse to TGF-beta/BMP signaling cascade. Plays a role in thecontrol of cell proliferation. Its association with SMAD2 andSMAD3 stimulates erythroid differentiation of hematopoieticstem/progenitor (By similarity). Monoubiquitinates SMAD4 and actsas an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade(Monoubiquitination of SMAD4 hampers its ability to form a stablecomplex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade). {ECO:0000250,ECO:0000269|PubMed:10022127, ECO:0000269|PubMed:15820681,ECO:0000269|PubMed:16751102, ECO:0000269|PubMed:19135894}. |
| 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 AFF1_TRIM33 |
| 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 AFF1_TRIM33 |
| 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 |
| - 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 AFF1_TRIM33 |
| 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 AFF1_TRIM33 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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