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Fusion gene ID: 22078 |
FusionGeneSummary for MKL1_SERPIND1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MKL1_SERPIND1 | Fusion gene ID: 22078 | Hgene | Tgene | Gene symbol | MKL1 | SERPIND1 | Gene ID | 57591 | 3053 |
| Gene name | megakaryoblastic leukemia (translocation) 1 | serpin family D member 1 | |
| Synonyms | BSAC|MAL|MKL|MRTF-A | D22S673|HC2|HCF2|HCII|HLS2|LS2|THPH10 | |
| Cytomap | 22q13.1-q13.2 | 22q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor A | heparin cofactor 2leuserpin 2protease inhibitor leuserpin-2serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1serpin D1serpin peptidase inhibitor, clade D (heparin cofactor), member 1 | |
| Modification date | 20180524 | 20180523 | |
| UniProtAcc | Q969V6 | P05546 | |
| Ensembl transtripts involved in fusion gene | ENST00000355630, ENST00000396617, ENST00000402042, ENST00000466278, ENST00000407029, ENST00000402630, | ENST00000215727, ENST00000406799, | |
| Fusion gene scores | * DoF score | 19 X 11 X 13=2717 | 2 X 2 X 2=8 |
| # samples | 26 | 2 | |
| ** MAII score | log2(26/2717*10)=-3.38543103719352 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MKL1 [Title/Abstract] AND SERPIND1 [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 | MKL1 | GO:0010735 | positive regulation of transcription via serum response element binding | 24440334 |
| Hgene | MKL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14970199 |
| 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 | UCS | TCGA-N6-A4VC-01A | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| * 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 |
| 5CDS-5UTR | ENST00000355630 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000355630 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000396617 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000396617 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000402042 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000402042 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| intron-5UTR | ENST00000466278 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| intron-5UTR | ENST00000466278 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000407029 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000407029 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000402630 | ENST00000215727 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
| 5CDS-5UTR | ENST00000402630 | ENST00000406799 | MKL1 | chr22 | 40859225 | - | SERPIND1 | chr22 | 21133585 | + |
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FusionProtFeatures for MKL1_SERPIND1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MKL1 | SERPIND1 |
| Transcriptional coactivator of serum response factor(SRF) with the potential to modulate SRF target genes. SuppressesTNF-induced cell death by inhibiting activation of caspases; itstranscriptional activity is indispensable for the antiapoptoticfunction. It may up-regulate antiapoptotic molecules, which inturn inhibit caspase activation (By similarity). {ECO:0000250}. | Thrombin inhibitor activated by the glycosaminoglycans,heparin or dermatan sulfate. In the presence of the latter, HC-IIbecomes the predominant thrombin inhibitor in place ofantithrombin III (AT-III). Also inhibits chymotrypsin, but in aglycosaminoglycan-independent manner.{ECO:0000269|PubMed:1939083}. Peptides at the N-terminal of HC-II have chemotacticactivity for both monocytes and neutrophils.{ECO:0000269|PubMed:1939083}. |
| 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 MKL1_SERPIND1 |
| 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 MKL1_SERPIND1 |
| 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 |
| MKL1 | MYOCD, SRF, MKL2, SUPT16H, SSRP1, KDM3A, SMARCA4, GSK3B, SMAD3, ACTB, MVP, NXF1, NCOA3, KIAA0753, CEP63, CEP19, LCA5, RPGRIP1, TCTN1, XPO1, DNMT1, EP300, BCL7A, TRIM25 | SERPIND1 | F2, APP, VAT1L |
| - 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 MKL1_SERPIND1 |
| 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 |
| Tgene | SERPIND1 | P05546 | DB01593 | Zinc | Heparin cofactor 2 | small molecule | approved|investigational |
| Tgene | SERPIND1 | P05546 | DB06271 | Sulodexide | Heparin cofactor 2 | biotech | approved|investigational |
| Tgene | SERPIND1 | P05546 | DB09258 | Bemiparin | Heparin cofactor 2 | small molecule | approved|investigational |
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RelatedDiseases for MKL1_SERPIND1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SERPIND1 | C0398626 | Heparin cofactor II deficiency (disorder) | 3 | CTD_human;UNIPROT |
| Tgene | SERPIND1 | C0007274 | Carotid Artery Thrombosis | 1 | CTD_human |
| Tgene | SERPIND1 | C0025472 | Mesenteric Vascular Occlusion | 1 | CTD_human |
| Tgene | SERPIND1 | C0398623 | Thrombophilia | 1 | CTD_human |
| Tgene | SERPIND1 | C1861172 | Venous Thromboembolism | 1 | CTD_human |
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