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Fusion gene ID: 9499 |
FusionGeneSummary for DDB1_ADCY2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDB1_ADCY2 | Fusion gene ID: 9499 | Hgene | Tgene | Gene symbol | DDB1 | ADCY2 | Gene ID | 1642 | 108 |
| Gene name | damage specific DNA binding protein 1 | adenylate cyclase 2 | |
| Synonyms | DDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BF | AC2|HBAC2 | |
| Cytomap | 11q12.2 | 5p15.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA damage-binding protein 1DDB p127 subunitDNA damage-binding protein aHBV X-associated protein 1UV-DDB 1UV-damaged DNA-binding factorUV-damaged DNA-binding protein 1XAP-1XPE-binding factordamage-specific DNA binding protein 1, 127kDaxeroderma | adenylate cyclase type 23',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 2adenylate cyclase 2 (brain)adenylate cyclase IIadenylate cyclase type IIadenylyl cyclase 2type II adenylate cyclase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q16531 | Q08462 | |
| Ensembl transtripts involved in fusion gene | ENST00000301764, ENST00000450997, ENST00000451943, ENST00000538470, ENST00000545930, | ENST00000338316, ENST00000537121, ENST00000513693, | |
| Fusion gene scores | * DoF score | 12 X 12 X 6=864 | 13 X 12 X 5=780 |
| # samples | 14 | 13 | |
| ** MAII score | log2(14/864*10)=-2.6256044852185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DDB1 [Title/Abstract] AND ADCY2 [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 | DDB1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 11673459 |
| Hgene | DDB1 | GO:0035518 | histone H2A monoubiquitination | 22334663 |
| Hgene | DDB1 | GO:0051702 | interaction with symbiont | 23137809 |
| Hgene | DDB1 | GO:0070914 | UV-damage excision repair | 22334663 |
| 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 | AI079657 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| * 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 |
| intron-intron | ENST00000301764 | ENST00000338316 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000301764 | ENST00000537121 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000301764 | ENST00000513693 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000450997 | ENST00000338316 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000450997 | ENST00000537121 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000450997 | ENST00000513693 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| 5CDS-intron | ENST00000451943 | ENST00000338316 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| 5CDS-intron | ENST00000451943 | ENST00000537121 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| 5CDS-intron | ENST00000451943 | ENST00000513693 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000538470 | ENST00000338316 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000538470 | ENST00000537121 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000538470 | ENST00000513693 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000545930 | ENST00000338316 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000545930 | ENST00000537121 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
| intron-intron | ENST00000545930 | ENST00000513693 | DDB1 | chr11 | 61067031 | + | ADCY2 | chr1 | 152005067 | + |
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FusionProtFeatures for DDB1_ADCY2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDB1 | ADCY2 |
| Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruitproteins of the nucleotide excision repair pathway (the NERpathway) to initiate DNA repair. The UV-DDB complex preferentiallybinds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts(6-4 PP), apurinic sites and short mismatches. Also appears tofunction as a component of numerous distinct DCX (DDB1-CUL4-X-box)E3 ubiquitin-protein ligase complexes which mediate theubiquitination and subsequent proteasomal degradation of targetproteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substraterecognition component recruited by DDB1. DCX(DDB2) (also known asDDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinatehistone H2A, histone H3 and histone H4 at sites of UV-induced DNAdamage. The ubiquitination of histones may facilitate theirremoval from the nucleosome and promote subsequent DNA repair.DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding byXPC and promote NER. DCX(DTL) plays a role in PCNA-dependentpolyubiquitination of CDT1 and MDM2-dependent ubiquitination ofTP53 in response to radiation-induced DNA damage and during DNAreplication. DCX(ERCC8) (the CSA complex) plays a role intranscription-coupled repair (TCR). May also play a role inubiquitination of CDKN1B/p27kip when associated with CUL4 andSKP2. {ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15882621,ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16407242,ECO:0000269|PubMed:16407252, ECO:0000269|PubMed:16473935,ECO:0000269|PubMed:16482215, ECO:0000269|PubMed:16678110,ECO:0000269|PubMed:16940174, ECO:0000269|PubMed:17041588,ECO:0000269|PubMed:17079684, ECO:0000269|PubMed:18332868,ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:18593899,ECO:0000269|PubMed:19966799, ECO:0000269|PubMed:22118460,ECO:0000269|PubMed:25043012, ECO:0000269|PubMed:25108355}. | Catalyzes the formation of the signaling molecule cAMPin response to G-protein signaling (PubMed:15385642). Down-streamsignaling cascades mediate changes in gene expression patterns andlead to increased IL6 production. Functions in signaling cascadesdownstream of the muscarinic acetylcholine receptors (Bysimilarity). {ECO:0000250|UniProtKB:P26769,ECO:0000269|PubMed:15385642}. |
| 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 DDB1_ADCY2 |
| 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 DDB1_ADCY2 |
| 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 DDB1_ADCY2 |
| 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 |
| Tgene | ADCY2 | Q08462 | DB09121 | Aurothioglucose | Adenylate cyclase type 2 | small molecule | approved|withdrawn |
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RelatedDiseases for DDB1_ADCY2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DDB1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | ADCY2 | C0004096 | Asthma | 1 | CTD_human |
| Tgene | ADCY2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
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