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Fusion gene ID: 11363 |
FusionGeneSummary for EIF4H_H2AFY |
Fusion gene summary |
Fusion gene information | Fusion gene name: EIF4H_H2AFY | Fusion gene ID: 11363 | Hgene | Tgene | Gene symbol | EIF4H | H2AFY | Gene ID | 7458 | 9555 |
Gene name | eukaryotic translation initiation factor 4H | H2A histone family member Y | |
Synonyms | WBSCR1|WSCR1|eIF-4H | H2A.y|H2A/y|H2AF12M|MACROH2A1.1|mH2A1|macroH2A1.2 | |
Cytomap | 7q11.23 | 5q31.1 | |
Type of gene | protein-coding | protein-coding | |
Description | eukaryotic translation initiation factor 4HWilliams-Beuren syndrome chromosome region 1 | core histone macro-H2A.1histone H2A.yhistone macroH2A1histone macroH2A1.1histone macroH2A1.2medulloblastoma antigen MU-MB-50.205 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q15056 | O75367 | |
Ensembl transtripts involved in fusion gene | ENST00000265753, ENST00000353999, ENST00000495187, | ENST00000511689, ENST00000512507, ENST00000304332, ENST00000312469, ENST00000423969, ENST00000510038, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 1=4 |
# samples | 4 | 2 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: EIF4H [Title/Abstract] AND H2AFY [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 | H2AFY | GO:0007549 | dosage compensation | 15053874 |
Tgene | H2AFY | GO:0034184 | positive regulation of maintenance of mitotic sister chromatid cohesion | 26373281 |
Tgene | H2AFY | GO:1904815 | negative regulation of protein localization to chromosome, telomeric region | 26373281 |
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 | BM479877 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
* 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 |
3UTR-5UTR | ENST00000265753 | ENST00000511689 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-intron | ENST00000265753 | ENST00000512507 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000265753 | ENST00000304332 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000265753 | ENST00000312469 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000265753 | ENST00000423969 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000265753 | ENST00000510038 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000353999 | ENST00000511689 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-intron | ENST00000353999 | ENST00000512507 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000353999 | ENST00000304332 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000353999 | ENST00000312469 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000353999 | ENST00000423969 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
3UTR-5UTR | ENST00000353999 | ENST00000510038 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-5UTR | ENST00000495187 | ENST00000511689 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-intron | ENST00000495187 | ENST00000512507 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-5UTR | ENST00000495187 | ENST00000304332 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-5UTR | ENST00000495187 | ENST00000312469 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-5UTR | ENST00000495187 | ENST00000423969 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
intron-5UTR | ENST00000495187 | ENST00000510038 | EIF4H | chr7 | 73609960 | + | H2AFY | chr5 | 134724788 | - |
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FusionProtFeatures for EIF4H_H2AFY |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EIF4H | H2AFY |
Stimulates the RNA helicase activity of EIF4A in thetranslation initiation complex. Binds weakly mRNA.{ECO:0000269|PubMed:10585411, ECO:0000269|PubMed:11418588}. | Variant histone H2A which replaces conventional H2A in asubset of nucleosomes where it represses transcription(PubMed:12718888, PubMed:15621527, PubMed:16428466). Nucleosomeswrap and compact DNA into chromatin, limiting DNA accessibility tothe cellular machineries which require DNA as a template. Histonesthereby play a central role in transcription regulation, DNArepair, DNA replication and chromosomal stability. DNAaccessibility is regulated via a complex set of post-translationalmodifications of histones, also called histone code, andnucleosome remodeling. Involved in stable X chromosomeinactivation (PubMed:15897469). Inhibits the binding oftranscription factors, including NF-kappa-B, and interferes withthe activity of remodeling SWI/SNF complexes (PubMed:12718888,PubMed:16428466). Inhibits histone acetylation by EP300 andrecruits class I HDACs, which induces a hypoacetylated state ofchromatin (PubMed:16428466, PubMed:16107708).{ECO:0000269|PubMed:12718888, ECO:0000269|PubMed:15621527,ECO:0000269|PubMed:15897469, ECO:0000269|PubMed:16107708,ECO:0000269|PubMed:16428466}. Isoform 1: Binds ADP-ribose and O-acetyl-ADP-ribose, andmay be involved in ADP-ribose-mediated chromatin modulation(PubMed:15902274). Increases the expression of genes involved inredox metabolism, including SOD3 (PubMed:23022728).{ECO:0000269|PubMed:15902274, ECO:0000269|PubMed:23022728}. Isoform 2: Represses SOD3 gene expression.{ECO:0000269|PubMed:23022728}. |
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 EIF4H_H2AFY |
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 EIF4H_H2AFY |
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 EIF4H_H2AFY |
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 EIF4H_H2AFY |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |