|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 26877 |
FusionGeneSummary for PHC1_FGF10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PHC1_FGF10 | Fusion gene ID: 26877 | Hgene | Tgene | Gene symbol | PHC1 | FGF10 | Gene ID | 1911 | 2255 |
| Gene name | polyhomeotic homolog 1 | fibroblast growth factor 10 | |
| Synonyms | EDR1|HPH1|MCPH11|RAE28 | - | |
| Cytomap | 12p13.31 | 5p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polyhomeotic-like protein 1early development regulator 1 (homolog of polyhomeotic 1)early development regulatory protein 1polyhomeotic-like 1 | fibroblast growth factor 10FGF-10keratinocyte growth factor 2produced by fibroblasts of urinary bladder lamina propria | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P78364 | O15520 | |
| Ensembl transtripts involved in fusion gene | ENST00000543824, ENST00000433847, ENST00000433083, ENST00000544916, ENST00000536844, | ENST00000264664, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 2 X 4=48 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PHC1 [Title/Abstract] AND FGF10 [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 | PHC1 | GO:0016574 | histone ubiquitination | 23418308 |
| Tgene | FGF10 | GO:0000187 | activation of MAPK activity | 14975937 |
| Tgene | FGF10 | GO:0010634 | positive regulation of epithelial cell migration | 17500053 |
| Tgene | FGF10 | GO:0010838 | positive regulation of keratinocyte proliferation | 17449030 |
| Tgene | FGF10 | GO:0031532 | actin cytoskeleton reorganization | 17449030 |
| Tgene | FGF10 | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 17188682 |
| Tgene | FGF10 | GO:0032781 | positive regulation of ATPase activity | 12804770 |
| Tgene | FGF10 | GO:0034394 | protein localization to cell surface | 17449030 |
| Tgene | FGF10 | GO:0042060 | wound healing | 11896977|19152659 |
| Tgene | FGF10 | GO:0043410 | positive regulation of MAPK cascade | 12804770 |
| Tgene | FGF10 | GO:0045739 | positive regulation of DNA repair | 14975937 |
| Tgene | FGF10 | GO:0045893 | positive regulation of transcription, DNA-templated | 17500053 |
| Tgene | FGF10 | GO:0046579 | positive regulation of Ras protein signal transduction | 12804770 |
| Tgene | FGF10 | GO:0048538 | thymus development | 17969154 |
| Tgene | FGF10 | GO:0048754 | branching morphogenesis of an epithelial tube | 17959718 |
| Tgene | FGF10 | GO:0050671 | positive regulation of lymphocyte proliferation | 19152659 |
| Tgene | FGF10 | GO:0050673 | epithelial cell proliferation | 19224135 |
| Tgene | FGF10 | GO:0050674 | urothelial cell proliferation | 11923311 |
| Tgene | FGF10 | GO:0050677 | positive regulation of urothelial cell proliferation | 11923311 |
| Tgene | FGF10 | GO:0050679 | positive regulation of epithelial cell proliferation | 15690149 |
| Tgene | FGF10 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17449030 |
| Tgene | FGF10 | GO:0050918 | positive chemotaxis | 9740653|17449030 |
| Tgene | FGF10 | GO:0051549 | positive regulation of keratinocyte migration | 17449030|19152659 |
| Tgene | FGF10 | GO:0060428 | lung epithelium development | 9740653 |
| Tgene | FGF10 | GO:0060447 | bud outgrowth involved in lung branching | 9740653 |
| Tgene | FGF10 | GO:0060595 | fibroblast growth factor receptor signaling pathway involved in mammary gland specification | 11923311 |
| Tgene | FGF10 | GO:0061033 | secretion by lung epithelial cell involved in lung growth | 10541313 |
| Tgene | FGF10 | GO:0070371 | ERK1 and ERK2 cascade | 17959718 |
| Tgene | FGF10 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 14975937 |
| Tgene | FGF10 | GO:0071157 | negative regulation of cell cycle arrest | 17188682 |
| Tgene | FGF10 | GO:0071338 | positive regulation of hair follicle cell proliferation | 16086254 |
| 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 | SKCM | TCGA-D3-A3CC-06A | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
| * 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 |
| Frame-shift | ENST00000543824 | ENST00000264664 | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
| 3UTR-3CDS | ENST00000433847 | ENST00000264664 | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
| Frame-shift | ENST00000433083 | ENST00000264664 | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
| Frame-shift | ENST00000544916 | ENST00000264664 | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
| 5UTR-3CDS | ENST00000536844 | ENST00000264664 | PHC1 | chr12 | 9070387 | + | FGF10 | chr5 | 44310632 | - |
Top |
FusionProtFeatures for PHC1_FGF10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PHC1 | FGF10 |
| Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility. Required for propercontrol of cellular levels of GMNN expression.{ECO:0000269|PubMed:23418308}. | Plays an important role in the regulation of embryonicdevelopment, cell proliferation and cell differentiation. Requiredfor normal branching morphogenesis. May play a role in woundhealing. {ECO:0000269|PubMed:16597617}. |
| 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 |
Top |
FusionGeneSequence for PHC1_FGF10 |
| 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). |
Top |
FusionGenePPI for PHC1_FGF10 |
| 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 |
| PHC1 | SFMBT1, UBE2I, PHC2, CBX4, BMI1, RING1, PCGF2, PPP1CA, ELAVL1, RNF2, PHC3, CBX2, CBX6, CBX8, SCMH1, SCML1, HDAC2, PPP1CC, PHC1, SIAH1, SP100, SUMO1, PIAS2, ZCCHC7, SUMO1P1, EED, HIST1H2BG, NANOG, NPTXR, CBX7, SFMBT2, COMMD3-BMI1, CSNK2A1, TRPM3 | FGF10 | FGFR2, HIST1H1A, RPL26L1, SIRT1, ITIH2, HBD, FGFR1 |
| - 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 |
Top |
RelatedDrugs for PHC1_FGF10 |
| 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 |
Top |
RelatedDiseases for PHC1_FGF10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PHC1 | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
| Hgene | PHC1 | C3809431 | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | 1 | UNIPROT |
| Tgene | FGF10 | C0265269 | Lacrimoauriculodentodigital syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGF10 | C0008924 | Cleft Lip | 1 | CTD_human |
| Tgene | FGF10 | C0008925 | Cleft Palate | 1 | CTD_human |
| Tgene | FGF10 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | FGF10 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|