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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ADCY1-EYA4 (FusionGDB2 ID:HG107TG2070) |
Fusion Gene Summary for ADCY1-EYA4 |
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Fusion gene information | Fusion gene name: ADCY1-EYA4 | Fusion gene ID: hg107tg2070 | Hgene | Tgene | Gene symbol | ADCY1 | EYA4 | Gene ID | 107 | 2070 |
Gene name | adenylate cyclase 1 | EYA transcriptional coactivator and phosphatase 4 | |
Synonyms | AC1|DFNB44 | CMD1J|DFNA10 | |
Cytomap | ('ADCY1')('EYA4') 7p12.3 | 6q23.2 | |
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 | eyes absent homolog 4dJ78N10.1 (eyes absent)eyes absent-like protein 4 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q08828 | O95677 | |
Ensembl transtripts involved in fusion gene | ENST00000297323, ENST00000432715, | ||
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 7 X 7 X 4=196 |
# samples | 5 | 7 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ADCY1 [Title/Abstract] AND EYA4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ADCY1(45614781)-EYA4(133595854), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-AR-A0TW-01A | ADCY1 | chr7 | 45614781 | - | EYA4 | chr6 | 133595854 | + |
ChimerDB4 | BRCA | TCGA-AR-A0TW-01A | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
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Fusion Gene ORF analysis for ADCY1-EYA4 |
![]() * 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 |
5CDS-5UTR | ENST00000297323 | ENST00000355167 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000355286 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000367895 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000430974 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000452339 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000525849 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-5UTR | ENST00000297323 | ENST00000531901 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-intron | ENST00000297323 | ENST00000431403 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5CDS-intron | ENST00000297323 | ENST00000441015 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000355167 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000355286 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000367895 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000430974 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000452339 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000525849 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-5UTR | ENST00000432715 | ENST00000531901 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-intron | ENST00000432715 | ENST00000431403 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
5UTR-intron | ENST00000432715 | ENST00000441015 | ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595854 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ADCY1-EYA4 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595853 | + | 0.014318915 | 0.98568106 |
ADCY1 | chr7 | 45614781 | + | EYA4 | chr6 | 133595853 | + | 0.014318915 | 0.98568106 |
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Fusion Protein Features for ADCY1-EYA4 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45614781/:133595854) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ADCY1 | EYA4 |
FUNCTION: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity). {ECO:0000250|UniProtKB:O88444, ECO:0000250|UniProtKB:P19754}. | FUNCTION: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). {ECO:0000250|UniProtKB:Q99502}. |
![]() * 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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Fusion Gene Sequence for ADCY1-EYA4 |
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Fusion Gene PPI Analysis for ADCY1-EYA4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for ADCY1-EYA4 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ADCY1 | Q08828 | DB00131 | Adenosine phosphate | Product of | Small molecule | Approved|Investigational|Nutraceutical |
Hgene | ADCY1 | Q08828 | DB09121 | Aurothioglucose | Small molecule | Approved|Withdrawn |
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Related Diseases for ADCY1-EYA4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ADCY1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
Hgene | ADCY1 | C0086189 | Drug Withdrawal Symptoms | 1 | CTD_human |
Hgene | ADCY1 | C0087169 | Withdrawal Symptoms | 1 | CTD_human |
Hgene | ADCY1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | ADCY1 | C0751217 | Hyperkinesia, Generalized | 1 | CTD_human |
Hgene | ADCY1 | C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | 1 | CLINGEN |
Hgene | ADCY1 | C3887506 | Hyperkinesia | 1 | CTD_human |
Tgene | C3711374 | Nonsyndromic Deafness | 10 | CLINGEN | |
Tgene | C1832476 | Deafness, Autosomal Dominant 10 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1854368 | Cardiomyopathy, Dilated, 1J | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human;UNIPROT | |
Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |