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Fusion gene ID: 3242 |
FusionGeneSummary for ATOH8_GNLY |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATOH8_GNLY | Fusion gene ID: 3242 | Hgene | Tgene | Gene symbol | ATOH8 | GNLY | Gene ID | 84913 | 10578 |
| Gene name | atonal bHLH transcription factor 8 | granulysin | |
| Synonyms | HATH6|bHLHa21 | D2S69E|LAG-2|LAG2|NKG5|TLA519 | |
| Cytomap | 2p11.2 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein atonal homolog 8atonal homolog 6atonal homolog 8atonal homolog bHLH transcription factor 8basic helix loop helix transcription factor 6class A basic helix-loop-helix protein 21helix-loop-helix protein hATH-6 | granulysinT-cell activation protein 519T-lymphocyte activation gene 519lymphocyte-activation gene 2lymphokine LAG-2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q96SQ7 | P22749 | |
| Ensembl transtripts involved in fusion gene | ENST00000306279, ENST00000463422, | ENST00000263863, ENST00000524600, ENST00000533041, ENST00000409696, | |
| Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 4 X 2 X 4=32 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/24*10)=1.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ATOH8 [Title/Abstract] AND GNLY [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 | ATOH8 | GO:0045603 | positive regulation of endothelial cell differentiation | 24463812 |
| Hgene | ATOH8 | GO:0045893 | positive regulation of transcription, DNA-templated | 24236640 |
| Hgene | ATOH8 | GO:0060395 | SMAD protein signal transduction | 24236640 |
| Tgene | GNLY | GO:0002818 | intracellular defense response | 9756476 |
| Tgene | GNLY | GO:0031640 | killing of cells of other organism | 9756476 |
| Tgene | GNLY | GO:0042742 | defense response to bacterium | 9756476 |
| Tgene | GNLY | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 9756476 |
| 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 | LUAD | TCGA-69-7978-01A | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| TCGA | RV | LUAD | TCGA-86-8673-01A | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| * 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 | ENST00000306279 | ENST00000263863 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| Frame-shift | ENST00000306279 | ENST00000524600 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 5CDS-3UTR | ENST00000306279 | ENST00000533041 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 5CDS-3UTR | ENST00000306279 | ENST00000409696 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3CDS | ENST00000463422 | ENST00000263863 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3CDS | ENST00000463422 | ENST00000524600 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3UTR | ENST00000463422 | ENST00000533041 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3UTR | ENST00000463422 | ENST00000409696 | ATOH8 | chr2 | 85991305 | + | GNLY | chr2 | 85922443 | + |
| Frame-shift | ENST00000306279 | ENST00000263863 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| Frame-shift | ENST00000306279 | ENST00000524600 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 5CDS-3UTR | ENST00000306279 | ENST00000533041 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 5CDS-3UTR | ENST00000306279 | ENST00000409696 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3CDS | ENST00000463422 | ENST00000263863 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3CDS | ENST00000463422 | ENST00000524600 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3UTR | ENST00000463422 | ENST00000533041 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
| 3UTR-3UTR | ENST00000463422 | ENST00000409696 | ATOH8 | chr2 | 85982080 | + | GNLY | chr2 | 85922443 | + |
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FusionProtFeatures for ATOH8_GNLY |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATOH8 | GNLY |
| Transcription factor that binds a palindromic(canonical) core consensus DNA sequence 5'-CANNTG- 3' known as anE-box element, possibly as a heterodimer with other bHLH proteins(PubMed:24236640). Regulates endothelial cell proliferation,migration and tube-like structures formation (PubMed:24463812).Modulates endothelial cell differentiation through NOS3(PubMed:24463812). May be implicated in specification anddifferentiation of neuronal cell lineages in the brain (Bysimilarity). May participate in kidney development and may beinvolved in podocyte differentiation (By similarity). During earlyembryonic development is involved in tissue-specificdifferentiation processes that are dependent on class II bHLHfactors and namely modulates the differentiation program initiatedby the pro-endocrine factor NEUROG3 (By similarity). Duringmyogenesis, may play a role during the transition of myoblastsfrom the proliferative phase to the differentiation phase (Bysimilarity). Positively regulates HAMP transcription in two ways,firstly by acting directly on the HAMP promoter via E-boxesbinding and indirectly through increased phosphorylation of SMADprotein complex (PubMed:24236640). Repress NEUROG3-dependent geneactivation in a gene-specific manner through at least twomechanisms; requires only either the sequestering of a generalpartner such as TCF3 through heterodimerization, either alsorequires binding of the bHLH domain to DNA via a basic motif (Bysimilarity). {ECO:0000250|UniProtKB:Q99NA2,ECO:0000269|PubMed:24236640, ECO:0000269|PubMed:24463812}. | Antimicrobial protein that kills intracellularpathogens. Active against a broad range of microbes, includingGram-positive and Gram-negative bacteria, fungi, and parasites.Kills Mycobacterium tuberculosis. |
| 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 ATOH8_GNLY |
| 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 ATOH8_GNLY |
| 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 |
| ATOH8 | TCF3, CYP3A5 | GNLY | APP |
| - 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 ATOH8_GNLY |
| 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 ATOH8_GNLY |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATOH8 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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