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Fusion gene ID: 34771 |
FusionGeneSummary for SMAP1_POLR2G |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAP1_POLR2G | Fusion gene ID: 34771 | Hgene | Tgene | Gene symbol | SMAP1 | POLR2G | Gene ID | 60682 | 5436 |
| Gene name | small ArfGAP 1 | RNA polymerase II subunit G | |
| Synonyms | SMAP-1 | RPB19|RPB7|hRPB19|hsRPB7 | |
| Cytomap | 6q13 | 11q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | stromal membrane-associated protein 1stromal membrane-associated GTPase-activating protein 1 | DNA-directed RNA polymerase II subunit RPB7DNA directed RNA polymerase II 19 kda polypeptideDNA-directed RNA polymerase II 19 kDa polypeptideDNA-directed RNA polymerase II subunit GRNA polymerase II 19 kDa subunitRNA polymerase II seventh subunitRNA | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IYB5 | P62487 | |
| Ensembl transtripts involved in fusion gene | ENST00000316999, ENST00000370452, ENST00000370455, ENST00000422334, | ENST00000301788, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SMAP1 [Title/Abstract] AND POLR2G [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 | POLR2G | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| 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 | CB048938 | SMAP1 | chr6 | 71428519 | - | POLR2G | chr11 | 62534182 | - |
| * 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-intron | ENST00000316999 | ENST00000301788 | SMAP1 | chr6 | 71428519 | - | POLR2G | chr11 | 62534182 | - |
| intron-intron | ENST00000370452 | ENST00000301788 | SMAP1 | chr6 | 71428519 | - | POLR2G | chr11 | 62534182 | - |
| intron-intron | ENST00000370455 | ENST00000301788 | SMAP1 | chr6 | 71428519 | - | POLR2G | chr11 | 62534182 | - |
| intron-intron | ENST00000422334 | ENST00000301788 | SMAP1 | chr6 | 71428519 | - | POLR2G | chr11 | 62534182 | - |
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FusionProtFeatures for SMAP1_POLR2G |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAP1 | POLR2G |
| GTPase activating protein that acts on ARF6. Plays arole in clathrin-dependent endocytosis. May play a role inerythropoiesis (By similarity). {ECO:0000250}. | DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Component of RNA polymerase II which synthesizes mRNAprecursors and many functional non-coding RNAs. Pol II is thecentral component of the basal RNA polymerase II transcriptionmachinery. It is composed of mobile elements that move relative toeach other. RPB7 is part of a subcomplex with RPB4 that binds to apocket formed by RPB1, RPB2 and RPB6 at the base of the clampelement. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7in the closed conformation thus preventing double-stranded DNA toenter the active site cleft. The RPB4-RPB7 subcomplex bindssingle-stranded DNA and RNA (By similarity). Binds RNA.{ECO:0000250, ECO:0000269|PubMed:9852112}. |
| 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 SMAP1_POLR2G |
| 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 SMAP1_POLR2G |
| 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 SMAP1_POLR2G |
| 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 SMAP1_POLR2G |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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