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Fusion gene ID: 28521 |
FusionGeneSummary for PPP6R1_SOHLH2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP6R1_SOHLH2 | Fusion gene ID: 28521 | Hgene | Tgene | Gene symbol | PPP6R1 | SOHLH2 | Gene ID | 22870 | 54937 |
| Gene name | protein phosphatase 6 regulatory subunit 1 | spermatogenesis and oogenesis specific basic helix-loop-helix 2 | |
| Synonyms | KIAA1115|PP6R1|SAP190|SAPS1 | SOSF2|SPATA28|TEB1|bHLHe81 | |
| Cytomap | 19q13.42 | 13q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory subunit 1SAPS domain family, member 1 | spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2spermatogenesis associated 28testicular secretory protein Li 50testicular secretory protein Li 51 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9UPN7 | Q9NX45 | |
| Ensembl transtripts involved in fusion gene | ENST00000412770, ENST00000587283, | ENST00000554962, ENST00000379881, ENST00000317764, | |
| Fusion gene scores | * DoF score | 5 X 4 X 2=40 | 2 X 2 X 2=8 |
| # samples | 13 | 2 | |
| ** MAII score | log2(13/40*10)=1.70043971814109 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PPP6R1 [Title/Abstract] AND SOHLH2 [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 | PPP6R1 | GO:0043666 | regulation of phosphoprotein phosphatase activity | 16716191 |
| 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 | BQ432991 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| * 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 | ENST00000412770 | ENST00000554962 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| intron-3UTR | ENST00000412770 | ENST00000379881 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| intron-intron | ENST00000412770 | ENST00000317764 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| 5CDS-intron | ENST00000587283 | ENST00000554962 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| 5CDS-3UTR | ENST00000587283 | ENST00000379881 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
| 5CDS-intron | ENST00000587283 | ENST00000317764 | PPP6R1 | chr19 | 55741855 | - | SOHLH2 | chr13 | 36742478 | - |
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FusionProtFeatures for PPP6R1_SOHLH2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP6R1 | SOHLH2 |
| Regulatory subunit of protein phosphatase 6 (PP6). Mayfunction as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation inresponse to TNF-alpha. {ECO:0000269|PubMed:16769727}. | Transcription regulator of both male and female germlinedifferentiation. Suppresses genes involved in spermatogonial stemcells maintenance, and induces genes important for spermatogonialdifferentiation. Coordinates oocyte differentiation withoutaffecting meiosis I (By similarity).{ECO:0000250|UniProtKB:Q6IUP1, ECO:0000250|UniProtKB:Q9D489}. |
| 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 PPP6R1_SOHLH2 |
| 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 PPP6R1_SOHLH2 |
| 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 PPP6R1_SOHLH2 |
| 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 PPP6R1_SOHLH2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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