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Fusion gene ID: 10551 |
FusionGeneSummary for DRAM1_OVOL2 |
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Fusion gene information | Fusion gene name: DRAM1_OVOL2 | Fusion gene ID: 10551 | Hgene | Tgene | Gene symbol | DRAM1 | OVOL2 | Gene ID | 55332 | 58495 |
Gene name | DNA damage regulated autophagy modulator 1 | ovo like zinc finger 2 | |
Synonyms | DRAM | CHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339 | |
Cytomap | 12q23.2 | 20p11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA damage-regulated autophagy modulator protein 1damage-regulated autophagy modulator | transcription factor Ovo-like 2corneal endothelial dystrophy 1 (autosomal dominant)zinc finger protein 339 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8N682 | Q9BRP0 | |
Ensembl transtripts involved in fusion gene | ENST00000258534, ENST00000544152, | ENST00000278780, ENST00000483661, | |
Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 2 X 2 X 2=8 |
# samples | 5 | 2 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: DRAM1 [Title/Abstract] AND OVOL2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DRAM1 | GO:0010506 | regulation of autophagy | 19895784 |
![]() (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 | LIHC | TCGA-NI-A8LF-01A | DRAM1 | chr12 | 102271698 | + | OVOL2 | chr20 | 18022367 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000258534 | ENST00000278780 | DRAM1 | chr12 | 102271698 | + | OVOL2 | chr20 | 18022367 | - |
5CDS-5UTR | ENST00000258534 | ENST00000483661 | DRAM1 | chr12 | 102271698 | + | OVOL2 | chr20 | 18022367 | - |
Frame-shift | ENST00000544152 | ENST00000278780 | DRAM1 | chr12 | 102271698 | + | OVOL2 | chr20 | 18022367 | - |
5CDS-5UTR | ENST00000544152 | ENST00000483661 | DRAM1 | chr12 | 102271698 | + | OVOL2 | chr20 | 18022367 | - |
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FusionProtFeatures for DRAM1_OVOL2 |
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Hgene | Tgene |
DRAM1 | OVOL2 |
Lysosomal modulator of autophagy that plays a centralrole in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy. {ECO:0000269|PubMed:16839881,ECO:0000269|PubMed:17304243}. | Zinc-finger transcription repressor factor(PubMed:19700410). Plays a critical role in maintaining theidentity of epithelial lineages by suppressing epithelial-tomesenchymal transition (EMT) mainly through the repression ofZEB1, an EMT inducer (By similarity). Positively regulatesneuronal differentiation (By similarity). Suppresses cell cyclingand terminal differentiation of keratinocytes by directlyrepressing MYC and NOTCH1 (PubMed:19700410). Important for thecorrect development of primordial germ cells in embryos (Bysimilarity). {ECO:0000250|UniProtKB:Q8CIV7,ECO:0000269|PubMed:19700410}. |
![]() * 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 DRAM1_OVOL2 |
![]() (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 DRAM1_OVOL2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DRAM1 | APP, C1orf21, CREB3 | OVOL2 | BAG3, TRIM25 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DRAM1_OVOL2 |
![]() (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 DRAM1_OVOL2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DRAM1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | OVOL2 | C0206711 | Pilomatrixoma | 1 | CTD_human |
Tgene | OVOL2 | C0339284 | Polymorphous corneal dystrophy | 1 | CTD_human;ORPHANET |