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Fusion gene ID: 33360 |
FusionGeneSummary for SETD1B_MLXIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SETD1B_MLXIP | Fusion gene ID: 33360 | Hgene | Tgene | Gene symbol | SETD1B | MLXIP | Gene ID | 23067 | 22877 |
| Gene name | SET domain containing 1B | MLX interacting protein | |
| Synonyms | KMT2G|Set1B | MIR|MONDOA|bHLHe36 | |
| Cytomap | 12q24.31 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase SETD1BSET domain-containing protein 1BhSET1Blysine N-methyltransferase 2G | MLX-interacting proteinMlx interactorclass E basic helix-loop-helix protein 36transcriptional activator MondoA | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q9UPS6 | Q9HAP2 | |
| Ensembl transtripts involved in fusion gene | ENST00000604567, ENST00000542440, ENST00000267197, | ENST00000319080, ENST00000538698, ENST00000377037, ENST00000535996, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 7 X 6 X 4=168 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SETD1B [Title/Abstract] AND MLXIP [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 | SETD1B | GO:0051568 | histone H3-K4 methylation | 17355966 |
| Tgene | MLXIP | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11073985 |
| 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 | LUSC | TCGA-34-A5IX-01A | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| * 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 | ENST00000604567 | ENST00000319080 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000604567 | ENST00000538698 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000604567 | ENST00000377037 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000604567 | ENST00000535996 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| Frame-shift | ENST00000542440 | ENST00000319080 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000542440 | ENST00000538698 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000542440 | ENST00000377037 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000542440 | ENST00000535996 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| Frame-shift | ENST00000267197 | ENST00000319080 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000267197 | ENST00000538698 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000267197 | ENST00000377037 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
| 5CDS-intron | ENST00000267197 | ENST00000535996 | SETD1B | chr12 | 122243122 | + | MLXIP | chr12 | 122616839 | + |
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FusionProtFeatures for SETD1B_MLXIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SETD1B | MLXIP |
| Histone methyltransferase that specifically methylates'Lys-4' of histone H3, when part of the SET1 histonemethyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylationrepresents a specific tag for epigenetic transcriptionalactivation. The non-overlapping localization with SETD1A suggeststhat SETD1A and SETD1B make non-redundant contributions to theepigenetic control of chromatin structure and gene expression.Specifically tri-methylates 'Lys-4' of histone H3 in vitro. | Binds DNA as a heterodimer with MLX and activatestranscription. Binds to the canonical E box sequence 5'-CACGTG-3'.Plays a role in transcriptional activation of glycolytic targetgenes. Involved in glucose-responsive gene regulation.{ECO:0000250|UniProtKB:Q2VPU4, ECO:0000269|PubMed:12446771,ECO:0000269|PubMed:16782875}. |
| 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 SETD1B_MLXIP |
| 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 SETD1B_MLXIP |
| 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 |
| SETD1B | CXXC1, RBBP5, WDR5, WDR82, HIST1H3E, ASH2L, POLR2A, HIST2H3C, CDK9, HIST1H3A, PRMT2, SETD1A, MVD, WBP4, SYNCRIP, ZC3H3, RBM26, DPY30, PIP4K2A | MLXIP | MLX, YWHAB, PNKD, MTOR, XPO1 |
| - 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 SETD1B_MLXIP |
| 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 SETD1B_MLXIP |
| 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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