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Fusion gene ID: 15776 |
FusionGeneSummary for H2AFY2_SRGN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: H2AFY2_SRGN | Fusion gene ID: 15776 | Hgene | Tgene | Gene symbol | H2AFY2 | SRGN | Gene ID | 55506 | 5552 |
| Gene name | H2A histone family member Y2 | serglycin | |
| Synonyms | macroH2A2 | PPG|PRG|PRG1 | |
| Cytomap | 10q22.1 | 10q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | core histone macro-H2A.2core histone macroH2A2.2histone macroH2A2mH2A2 | serglycinhematopoetic proteoglycan core peptidehematopoetic proteoglycan core proteinhematopoietic proteoglycan core proteinp.PGplatelet proteoglycan core proteinproteoglycan 1, secretory granuleproteoglycan protein core for mast cell secretory gra | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9P0M6 | P10124 | |
| Ensembl transtripts involved in fusion gene | ENST00000373255, | ENST00000462445, ENST00000242465, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: H2AFY2 [Title/Abstract] AND SRGN [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 | H2AFY2 | GO:0007549 | dosage compensation | 11331621 |
| Tgene | SRGN | GO:0008626 | granzyme-mediated apoptotic signaling pathway | 11911826 |
| Tgene | SRGN | GO:0030502 | negative regulation of bone mineralization | 16870619 |
| 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 | BRCA | TCGA-A2-A25A-01A | H2AFY2 | chr10 | 71851710 | + | SRGN | chr10 | 70856840 | + |
| * 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 |
| 5CDS-intron | ENST00000373255 | ENST00000462445 | H2AFY2 | chr10 | 71851710 | + | SRGN | chr10 | 70856840 | + |
| 5CDS-intron | ENST00000373255 | ENST00000242465 | H2AFY2 | chr10 | 71851710 | + | SRGN | chr10 | 70856840 | + |
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FusionProtFeatures for H2AFY2_SRGN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| H2AFY2 | SRGN |
| Variant histone H2A which replaces conventional H2A in asubset of nucleosomes where it represses transcription.Nucleosomes wrap and compact DNA into chromatin, limiting DNAaccessibility to the cellular machineries which require DNA as atemplate. Histones thereby play a central role in transcriptionregulation, DNA repair, DNA replication and chromosomal stability.DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code,and nucleosome remodeling. May be involved in stable X chromosomeinactivation. {ECO:0000269|PubMed:15621527}. | Plays a role in formation of mast cell secretorygranules and mediates storage of various compounds in secretoryvesicles. Required for storage of some proteases in bothconnective tissue and mucosal mast cells and for storage ofgranzyme B in T-lymphocytes. Plays a role in localizing neutrophilelastase in azurophil granules of neutrophils. Mediates processingof MMP2. Plays a role in cytotoxic cell granule-mediated apoptosisby forming a complex with granzyme B which is delivered to cellsby perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also regulate protease secretion. Inhibits bonemineralization. {ECO:0000269|PubMed:11911826,ECO:0000269|PubMed:16420477, ECO:0000269|PubMed:16870619}. |
| 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 H2AFY2_SRGN |
| 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 H2AFY2_SRGN |
| 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 |
| H2AFY2 | HDGF, CBX5, DIDO1, WWP1, CUL7, OBSL1, SUZ12, EED, NUFIP1, DNAAF2, APLF, HIST1H2BA, IFI16, HIST1H3A, TEAD2, FOXE1, FBXW7, SBF2, H2AFY, TUBA8, HIST2H3PS2, TONSL, IPO9, ZNF189, MMS22L, SUPT16H, XPC, CENPQ, ZCCHC17, HEXIM1, CENPC, SPTY2D1, PPM1G, CDKN2AIP, BRIX1, KIAA0020, HIST2H2AB, RPL26L1, PARP2, TRMT1L, REXO4, RBM28, PDCD11, MCM2, RPL3, URB1, TRIM26, CCNT1, BBX, C11orf57, PURB, SSRP1, RFC1, RPF2, MYBBP1A, NOP2, BMS1, ZFP62, RRS1, RBM34, NLE1, MAK16, GLYR1, NSA2, MRPL34, NOC3L, URB2, CCNT2, DDX18, PPAN-P2RY11, PATZ1, CEBPZ, RBM19, RPF1, MCM4, RPL7L1, RPL37A, RPLP0, TEX10, DKC1, DDX24, RSBN1, DDX31, RPL4, RPS13, DDX51, PRPF4B, MRTO4, EBNA1BP2, MINA, RPL8, DDX21, RPL7A, ZC3H8, RRP8, DHX57, RPL15, ZNF770, GTPBP4, NR3C1, COX15, DLST | SRGN | SGTA, GZMB, PSRC1, BAG6, CEP70, UBR4, UBQLN4, UBQLN1, FHL3, ZFC3H1 |
| - 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 H2AFY2_SRGN |
| 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 H2AFY2_SRGN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SRGN | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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