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Fusion gene ID: 811 |
FusionGeneSummary for ADCY1_KDM3A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADCY1_KDM3A | Fusion gene ID: 811 | Hgene | Tgene | Gene symbol | ADCY1 | KDM3A | Gene ID | 107 | 55818 |
| Gene name | adenylate cyclase 1 | lysine demethylase 3A | |
| Synonyms | AC1|DFNB44 | JHDM2A|JHMD2A|JMJD1|JMJD1A|TSGA | |
| Cytomap | 7p12.3 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | adenylate cyclase type 13',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 1Ca(2+)/calmodulin-activated adenylyl cyclaseadenyl cyclaseadenylate cyclase 1 (brain)adenylate cyclase type Iadenylyl cyclase 1 | lysine-specific demethylase 3AjmjC domain-containing histone demethylation protein 2Ajumonji C domain-containing histone demethylase 2Ajumonji domain-containing protein 1Alysine (K)-specific demethylase 3Atestis-specific protein A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q08828 | Q9Y4C1 | |
| Ensembl transtripts involved in fusion gene | ENST00000297323, ENST00000432715, | ENST00000409556, ENST00000312912, ENST00000409064, ENST00000542128, ENST00000485171, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 2 X 2 X 1=4 |
| # 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(2/4*10)=2.32192809488736 | |
| Context | PubMed: ADCY1 [Title/Abstract] AND KDM3A [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 | KDM3A | GO:0009755 | hormone-mediated signaling pathway | 16603237 |
| Tgene | KDM3A | GO:0030521 | androgen receptor signaling pathway | 16603237 |
| Tgene | KDM3A | GO:0033169 | histone H3-K9 demethylation | 16603237 |
| Tgene | KDM3A | GO:0046293 | formaldehyde biosynthetic process | 16603237 |
| 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 | BM693341 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| * 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-3UTR | ENST00000297323 | ENST00000409556 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| 3UTR-3UTR | ENST00000297323 | ENST00000312912 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| 3UTR-3UTR | ENST00000297323 | ENST00000409064 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| 3UTR-3UTR | ENST00000297323 | ENST00000542128 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| 3UTR-intron | ENST00000297323 | ENST00000485171 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| intron-3UTR | ENST00000432715 | ENST00000409556 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| intron-3UTR | ENST00000432715 | ENST00000312912 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| intron-3UTR | ENST00000432715 | ENST00000409064 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| intron-3UTR | ENST00000432715 | ENST00000542128 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
| intron-intron | ENST00000432715 | ENST00000485171 | ADCY1 | chr7 | 45754880 | + | KDM3A | chr2 | 86719270 | + |
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FusionProtFeatures for ADCY1_KDM3A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADCY1 | KDM3A |
| Catalyzes the formation of the signaling molecule cAMPin response to G-protein signaling. Mediates responses toincreased cellular Ca(2+)/calmodulin levels (By similarity). Maybe involved in regulatory processes in the central nervous system.May play a role in memory and learning. Plays a role in theregulation of the circadian rhythm of daytime contrast sensitivityprobably by modulating the rhythmic synthesis of cyclic AMP in theretina (By similarity). {ECO:0000250|UniProtKB:O88444,ECO:0000250|UniProtKB:P19754}. | Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code.Preferentially demethylates mono- and dimethylated H3 'Lys-9'residue, with a preference for dimethylated residue, while it hasweak or no activity on trimethylated H3 'Lys-9'. Demethylation ofLys residue generates formaldehyde and succinate. Involved inhormone-dependent transcriptional activation, by participating inrecruitment to androgen-receptor target genes, resulting in H3'Lys-9' demethylation and transcriptional activation. Involved inspermatogenesis by regulating expression of target genes such asPRM1 and TNP1 which are required for packaging and condensation ofsperm chromatin. Involved in obesity resistance through regulationof metabolic genes such as PPARA and UCP1.{ECO:0000269|PubMed:16603237, ECO:0000269|PubMed:28262558}. |
| 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 ADCY1_KDM3A |
| 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 ADCY1_KDM3A |
| 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 ADCY1_KDM3A |
| 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 |
| Hgene | ADCY1 | Q08828 | DB09121 | Aurothioglucose | Adenylate cyclase type 1 | small molecule | approved|withdrawn |
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RelatedDiseases for ADCY1_KDM3A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADCY1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Hgene | ADCY1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | ADCY1 | C0424295 | Hyperactive behavior | 1 | CTD_human |
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