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Fusion gene ID: 15508 |
FusionGeneSummary for GSDMC_FAM49B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GSDMC_FAM49B | Fusion gene ID: 15508 | Hgene | Tgene | Gene symbol | GSDMC | FAM49B | Gene ID | 56169 | 51571 |
| Gene name | gasdermin C | family with sequence similarity 49 member B | |
| Synonyms | MLZE | BM-009|L1 | |
| Cytomap | 8q24.21 | 8q24.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | gasdermin-Cmelanoma-derived leucine zipper, extra-nuclear factormelanoma-derived leucine zipper-containing extranuclear factor | protein FAM49BFAM49B/JPH1 fusionMTSS1/FAM49B fusion | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BYG8 | Q9NUQ9 | |
| Ensembl transtripts involved in fusion gene | ENST00000276708, | ENST00000519824, ENST00000522746, ENST00000523509, ENST00000401979, ENST00000519110, ENST00000522250, ENST00000517654, ENST00000519540, ENST00000522941, ENST00000518879, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 9 X 8=576 |
| # samples | 1 | 11 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(11/576*10)=-2.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GSDMC [Title/Abstract] AND FAM49B [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 |
| 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 | BRCA | TCGA-B6-A1KN-01A | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| * 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 |
| 5UTR-3CDS | ENST00000276708 | ENST00000519824 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-3CDS | ENST00000276708 | ENST00000522746 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-3CDS | ENST00000276708 | ENST00000523509 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-3CDS | ENST00000276708 | ENST00000401979 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-3CDS | ENST00000276708 | ENST00000519110 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-5UTR | ENST00000276708 | ENST00000522250 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-5UTR | ENST00000276708 | ENST00000517654 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-5UTR | ENST00000276708 | ENST00000519540 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-5UTR | ENST00000276708 | ENST00000522941 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
| 5UTR-intron | ENST00000276708 | ENST00000518879 | GSDMC | chr8 | 130798257 | - | FAM49B | chr8 | 130883742 | - |
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FusionProtFeatures for GSDMC_FAM49B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GSDMC | FAM49B |
| The N-terminal moiety promotes pyroptosis. May be actingby homooligomerizing within the membrane and forming pores(PubMed:27281216). The physiological relevance of this observationis unknown (Probable). {ECO:0000269|PubMed:27281216, ECO:0000305}. |
| 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 GSDMC_FAM49B |
| 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 GSDMC_FAM49B |
| 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 |
| GSDMC | KRAS | FAM49B | MAPK6, ELAVL1, NIF3L1, NUFIP1, DNAAF2, FAM49A, CDK19, UNK, IDH1, MTAP, PKM, SELENBP1, PCBP1, PPIL3, TALDO1, GTF2E2, RAB3IL1, TRIM25 |
| - 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 GSDMC_FAM49B |
| 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 GSDMC_FAM49B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FAM49B | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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