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Fusion gene ID: 33777 |
FusionGeneSummary for SHFM1_PKM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHFM1_PKM | Fusion gene ID: 33777 | Hgene | Tgene | Gene symbol | SHFM1 | PKM | Gene ID | 7979 | 5315 |
| Gene name | SEM1, 26S proteasome complex subunit | pyruvate kinase M1/2 | |
| Synonyms | C7orf76|DSS1|ECD|SHFD1|SHFM1|SHSF1|Shfdg1 | CTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1 | |
| Cytomap | 7q21.3 | 15q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 26S proteasome complex subunit SEM126S proteasome complex subunit DSS1deleted in split hand/split foot protein 1deleted in split-hand/split-foot 1split hand/foot deleted protein 1split hand/foot malformation (ectrodactyly) type 1split hand/foot malf | pyruvate kinase PKMOIP-3OPA-interacting protein 3PK, muscle typecytosolic thyroid hormone-binding proteinepididymis secretory protein Li 30p58pyruvate kinase 2/3pyruvate kinase isozymes M1/M2pyruvate kinase muscle isozymepyruvate kinase, muscle | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P14618 | ||
| Ensembl transtripts involved in fusion gene | ENST00000417009, ENST00000444799, ENST00000413065, ENST00000248566, ENST00000493858, | ENST00000319622, ENST00000565184, ENST00000389093, ENST00000335181, ENST00000568883, ENST00000449901, ENST00000565154, ENST00000568459, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 20 X 23 X 3=1380 |
| # samples | 5 | 24 | |
| ** MAII score | log2(5/9*10)=2.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(24/1380*10)=-2.52356195605701 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHFM1 [Title/Abstract] AND PKM [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 | PKM | GO:0012501 | programmed cell death | 17308100 |
| 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 | BM828121 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| * 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-5UTR | ENST00000417009 | ENST00000319622 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000565184 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000389093 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000335181 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000568883 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000449901 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000565154 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000417009 | ENST00000568459 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-5UTR | ENST00000444799 | ENST00000319622 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000565184 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000389093 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000335181 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000568883 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000449901 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000565154 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000444799 | ENST00000568459 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-5UTR | ENST00000413065 | ENST00000319622 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000565184 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000389093 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000335181 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000568883 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000449901 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000565154 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000413065 | ENST00000568459 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-5UTR | ENST00000248566 | ENST00000319622 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000565184 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000389093 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000335181 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000568883 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000449901 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000565154 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000248566 | ENST00000568459 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-5UTR | ENST00000493858 | ENST00000319622 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000565184 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000389093 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000335181 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000568883 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000449901 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000565154 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
| intron-intron | ENST00000493858 | ENST00000568459 | SHFM1 | chr7 | 96329921 | - | PKM | chr15 | 72523542 | - |
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FusionProtFeatures for SHFM1_PKM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHFM1 | PKM |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 SHFM1_PKM |
| 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 SHFM1_PKM |
| 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 SHFM1_PKM |
| 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 | PKM | P14618 | DB11638 | Artenimol | Pyruvate kinase PKM | small molecule | approved|investigational |
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RelatedDiseases for SHFM1_PKM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PKM | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Tgene | PKM | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | PKM | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | PKM | C0029456 | Osteoporosis | 1 | CTD_human |
| Tgene | PKM | C2239176 | Liver carcinoma | 1 | CTD_human |
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