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Fusion gene ID: 33350 |
FusionGeneSummary for SESTD1_POU1F1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SESTD1_POU1F1 | Fusion gene ID: 33350 | Hgene | Tgene | Gene symbol | SESTD1 | POU1F1 | Gene ID | 91404 | 5449 |
| Gene name | SEC14 and spectrin domain containing 1 | POU class 1 homeobox 1 | |
| Synonyms | SOLO | CPHD1|GHF-1|PIT1|POU1F1a|Pit-1 | |
| Cytomap | 2q31.2 | 3p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SEC14 domain and spectrin repeat-containing protein 1SEC14 and spectrin domains 1huntingtin-interacting protein-like proteinprotein Solo | pituitary-specific positive transcription factor 1POU domain, class 1, transcription factor 1growth hormone factor 1pituitary transcript factor 1 | |
| Modification date | 20180519 | 20180520 | |
| UniProtAcc | Q86VW0 | P28069 | |
| Ensembl transtripts involved in fusion gene | ENST00000428443, ENST00000486468, | ENST00000350375, ENST00000344265, ENST00000560656, | |
| Fusion gene scores | * DoF score | 6 X 2 X 4=48 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SESTD1 [Title/Abstract] AND POU1F1 [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 | POU1F1 | GO:0006355 | regulation of transcription, DNA-templated | 11301317 |
| Tgene | POU1F1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9482665 |
| Tgene | POU1F1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9685346|26612202 |
| 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 | SARC | TCGA-DX-AB2O-01A | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| * 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 | ENST00000428443 | ENST00000350375 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| 5UTR-3CDS | ENST00000428443 | ENST00000344265 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| 5UTR-3CDS | ENST00000428443 | ENST00000560656 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| intron-3CDS | ENST00000486468 | ENST00000350375 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| intron-3CDS | ENST00000486468 | ENST00000344265 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
| intron-3CDS | ENST00000486468 | ENST00000560656 | SESTD1 | chr2 | 180129226 | - | POU1F1 | chr3 | 87313662 | - |
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FusionProtFeatures for SESTD1_POU1F1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SESTD1 | POU1F1 |
| May act as the primary docking protein directingmembrane turnover and assembly of the transient receptor potentialchannels TRPC4 and TRPC5. Binds phospholipids such asphosphatidylinositol monophosphates, phosphatidylinositoldiphosphates (PIP2s) and phosphatidic acid, but not less polarlipids including phosphatidylcholine, phosphatidylserine, andphosphatidylinositol. The binding to PIP2s is calcium dependent.Might be involved in the plasma membrane localization of CTNNB1.{ECO:0000269|PubMed:20164195}. | Transcription factor involved in the specification ofthe lactotrope, somatotrope, and thyrotrope phenotypes in thedeveloping anterior pituitary. Specifically binds to the consensussequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes(PubMed:22010633, PubMed:26612202). {ECO:0000269|PubMed:22010633,ECO:0000269|PubMed:26612202}. |
| 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 SESTD1_POU1F1 |
| 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 SESTD1_POU1F1 |
| 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 |
| SESTD1 | IRAK2, HSF4, GPS2, STMN1, VTI1B, DECR2, LZTS2, SSX2, MEAF6, ARL11, ZNF669, P4HA3, DNALI1, GSN, PFN2 | POU1F1 | NR3C1, JUN, GATA2, NR1I2, PPARG, PPARA, VDR, NR1I3, PITX1, MED1, NCOR1, CREBBP, CEBPD, KIF5B, POU5F1 |
| - 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 SESTD1_POU1F1 |
| 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 SESTD1_POU1F1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SESTD1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | POU1F1 | C2751608 | Pituitary Hormone Deficiency, Combined, 1 | 10 | CTD_human;ORPHANET;UNIPROT |
| Tgene | POU1F1 | C0013338 | Pituitary dwarfism | 1 | CTD_human |
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