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Fusion Protein:TMEM38B-SET |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: TMEM38B-SET | FusionPDB ID: 92093 | FusionGDB2.0 ID: 92093 | Hgene | Tgene | Gene symbol | TMEM38B | SET | Gene ID | 55151 | 6418 |
| Gene name | transmembrane protein 38B | SET nuclear proto-oncogene | |
| Synonyms | C9orf87|D4Ertd89e|OI14|TRIC-B|TRICB|bA219P18.1 | 2PP2A|I2PP2A|IGAAD|IPP2A2|MRD58|PHAPII|TAF-I|TAF-IBETA | |
| Cytomap | 9q31.2 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | trimeric intracellular cation channel type B | protein SETHLA-DR-associated protein IISET nuclear oncogeneSET translocation (myeloid leukemia-associated)Template-Activating Factor-I, chromatin remodelling factorchromatin remodelling factorinhibitor of granzyme A-activated DNaseinhibitor-2 of pr | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q9BYW2 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000374692, ENST00000374688, | ENST00000477806, ENST00000322030, ENST00000372688, ENST00000372692, ENST00000409104, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 6 X 3=126 | 21 X 14 X 6=1764 |
| # samples | 7 | 22 | |
| ** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/1764*10)=-3.00327513203286 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: TMEM38B [Title/Abstract] AND SET [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TMEM38B(108457053)-SET(131453449), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | TMEM38B-SET seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TMEM38B-SET seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TMEM38B-SET seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. TMEM38B-SET seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | SET | GO:0045892 | negative regulation of transcription, DNA-templated | 19343227 |
| Fusion gene breakpoints across TMEM38B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across SET (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-EQ-A4SO-01A | TMEM38B | chr9 | 108457053 | + | SET | chr9 | 131453449 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000374692 | TMEM38B | chr9 | 108457053 | + | ENST00000372692 | SET | chr9 | 131453449 | + | 2726 | 229 | 87 | 989 | 300 |
| ENST00000374692 | TMEM38B | chr9 | 108457053 | + | ENST00000409104 | SET | chr9 | 131453449 | + | 1060 | 229 | 87 | 989 | 300 |
| ENST00000374692 | TMEM38B | chr9 | 108457053 | + | ENST00000322030 | SET | chr9 | 131453449 | + | 2714 | 229 | 87 | 989 | 300 |
| ENST00000374692 | TMEM38B | chr9 | 108457053 | + | ENST00000372688 | SET | chr9 | 131453449 | + | 1468 | 229 | 87 | 989 | 300 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000374692 | ENST00000372692 | TMEM38B | chr9 | 108457053 | + | SET | chr9 | 131453449 | + | 0.000160216 | 0.9998398 |
| ENST00000374692 | ENST00000409104 | TMEM38B | chr9 | 108457053 | + | SET | chr9 | 131453449 | + | 0.000614124 | 0.99938583 |
| ENST00000374692 | ENST00000322030 | TMEM38B | chr9 | 108457053 | + | SET | chr9 | 131453449 | + | 0.00015798 | 0.99984205 |
| ENST00000374692 | ENST00000372688 | TMEM38B | chr9 | 108457053 | + | SET | chr9 | 131453449 | + | 0.00028589 | 0.9997141 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >92093_92093_1_TMEM38B-SET_TMEM38B_chr9_108457053_ENST00000374692_SET_chr9_131453449_ENST00000322030_length(amino acids)=300AA_BP=47 MLRLPRSVVVMDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNKLRQPF FQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTE IKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLED -------------------------------------------------------------- >92093_92093_2_TMEM38B-SET_TMEM38B_chr9_108457053_ENST00000374692_SET_chr9_131453449_ENST00000372688_length(amino acids)=300AA_BP=47 MLRLPRSVVVMDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNKLRQPF FQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTE IKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLED -------------------------------------------------------------- >92093_92093_3_TMEM38B-SET_TMEM38B_chr9_108457053_ENST00000374692_SET_chr9_131453449_ENST00000372692_length(amino acids)=300AA_BP=47 MLRLPRSVVVMDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNKLRQPF FQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTE IKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLED -------------------------------------------------------------- >92093_92093_4_TMEM38B-SET_TMEM38B_chr9_108457053_ENST00000374692_SET_chr9_131453449_ENST00000409104_length(amino acids)=300AA_BP=47 MLRLPRSVVVMDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNKLRQPF FQKRSELIAKIPNFWVTTFVNHPQVSALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTE IKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHSDAGADELGEVIKDDIWPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLED -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:108457053/chr9:131453449) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | SET |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426). {ECO:0000250|UniProtKB:E9Q5F9, ECO:0000269|PubMed:16118227, ECO:0000269|PubMed:19141475, ECO:0000269|PubMed:21526191, ECO:0000269|PubMed:21792193, ECO:0000269|PubMed:23043551, ECO:0000269|PubMed:23325844, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24843002, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27474439, ECO:0000269|PubMed:27518565, ECO:0000269|PubMed:28753426}.; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. {ECO:0000269|PubMed:11461154}. |
| 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. |
| - 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 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 1_19 | 37.333333333333336 | 292.0 | Topological domain | Lumenal |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 20_33 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D1 |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000322030 | 0 | 8 | 239_290 | 24.333333333333332 | 278.0 | Compositional bias | Note=Asp/Glu-rich (highly acidic) | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372688 | 0 | 8 | 239_290 | 13.333333333333334 | 267.0 | Compositional bias | Note=Asp/Glu-rich (highly acidic) | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372692 | 0 | 8 | 239_290 | 37.333333333333336 | 291.0 | Compositional bias | Note=Asp/Glu-rich (highly acidic) | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000409104 | 0 | 8 | 239_290 | 15.333333333333334 | 269.0 | Compositional bias | Note=Asp/Glu-rich (highly acidic) | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000322030 | 0 | 8 | 31_78 | 24.333333333333332 | 278.0 | Region | Note=Dimerization | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000322030 | 0 | 8 | 79_225 | 24.333333333333332 | 278.0 | Region | Note=Earmuff domain | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372688 | 0 | 8 | 31_78 | 13.333333333333334 | 267.0 | Region | Note=Dimerization | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372688 | 0 | 8 | 79_225 | 13.333333333333334 | 267.0 | Region | Note=Earmuff domain | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372692 | 0 | 8 | 79_225 | 37.333333333333336 | 291.0 | Region | Note=Earmuff domain | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000409104 | 0 | 8 | 31_78 | 15.333333333333334 | 269.0 | Region | Note=Dimerization | |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000409104 | 0 | 8 | 79_225 | 15.333333333333334 | 269.0 | Region | Note=Earmuff domain |
| - 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 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 100_104 | 37.333333333333336 | 292.0 | Topological domain | Cytoplasmic |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 122_139 | 37.333333333333336 | 292.0 | Topological domain | Lumenal |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 157_179 | 37.333333333333336 | 292.0 | Topological domain | Cytoplasmic |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 196_207 | 37.333333333333336 | 292.0 | Topological domain | Lumenal |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 228_291 | 37.333333333333336 | 292.0 | Topological domain | Cytoplasmic |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 34_50 | 37.333333333333336 | 292.0 | Topological domain | Cytoplasmic |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 71_82 | 37.333333333333336 | 292.0 | Topological domain | Lumenal |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 105_121 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D4 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 140_156 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D5 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 180_195 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D6 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 208_227 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D7 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 51_70 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D2 |
| Hgene | TMEM38B | chr9:108457053 | chr9:131453449 | ENST00000374692 | + | 1 | 6 | 83_99 | 37.333333333333336 | 292.0 | Transmembrane | Helical%3BName%3D3 |
| Tgene | SET | chr9:108457053 | chr9:131453449 | ENST00000372692 | 0 | 8 | 31_78 | 37.333333333333336 | 291.0 | Region | Note=Dimerization |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| TMEM38B | |
| SET |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to TMEM38B-SET |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to TMEM38B-SET |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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