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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ADCY1-EYA4 (FusionGDB2 ID:HG107TG2070)

Fusion Gene Summary for ADCY1-EYA4

check button Fusion gene summary
Fusion gene informationFusion gene name: ADCY1-EYA4
Fusion gene ID: hg107tg2070
HgeneTgene
Gene symbol

ADCY1

EYA4

Gene ID

107

2070

Gene nameadenylate cyclase 1EYA transcriptional coactivator and phosphatase 4
SynonymsAC1|DFNB44CMD1J|DFNA10
Cytomap('ADCY1')('EYA4')

7p12.3

6q23.2

Type of geneprotein-codingprotein-coding
Descriptionadenylate cyclase type 13',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 1Ca(2+)/calmodulin-activated adenylyl cyclaseadenyl cyclaseadenylate cyclase 1 (brain)adenylate cyclase type Iadenylyl cyclase 1eyes absent homolog 4dJ78N10.1 (eyes absent)eyes absent-like protein 4
Modification date2020031320200313
UniProtAcc

Q08828

O95677

Ensembl transtripts involved in fusion geneENST00000297323, ENST00000432715, 
Fusion gene scores* DoF score5 X 5 X 3=757 X 7 X 4=196
# samples 57
** MAII scorelog2(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 breakpointADCY1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID


check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AR-A0TW-01AADCY1chr7

45614781

-EYA4chr6

133595854

+
ChimerDB4BRCATCGA-AR-A0TW-01AADCY1chr7

45614781

+EYA4chr6

133595854

+


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Fusion Gene ORF analysis for ADCY1-EYA4

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000297323ENST00000355167ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000355286ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000367895ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000430974ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000452339ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000525849ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-5UTRENST00000297323ENST00000531901ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-intronENST00000297323ENST00000431403ADCY1chr7

45614781

+EYA4chr6

133595854

+
5CDS-intronENST00000297323ENST00000441015ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000355167ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000355286ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000367895ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000430974ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000452339ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000525849ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-5UTRENST00000432715ENST00000531901ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-intronENST00000432715ENST00000431403ADCY1chr7

45614781

+EYA4chr6

133595854

+
5UTR-intronENST00000432715ENST00000441015ADCY1chr7

45614781

+EYA4chr6

133595854

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ADCY1-EYA4


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ADCY1chr745614781+EYA4chr6133595853+0.0143189150.98568106
ADCY1chr745614781+EYA4chr6133595853+0.0143189150.98568106


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ADCY1-EYA4


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADCY1

Q08828

EYA4

O95677

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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ADCY1-EYA4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ADCY1-EYA4


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ADCY1-EYA4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneADCY1Q08828DB00131Adenosine phosphateProduct ofSmall moleculeApproved|Investigational|Nutraceutical
HgeneADCY1Q08828DB09121AurothioglucoseSmall moleculeApproved|Withdrawn

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Related Diseases for ADCY1-EYA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADCY1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneADCY1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneADCY1C0087169Withdrawal Symptoms1CTD_human
HgeneADCY1C0149925Small cell carcinoma of lung1CTD_human
HgeneADCY1C0751217Hyperkinesia, Generalized1CTD_human
HgeneADCY1C1846647DEAFNESS, AUTOSOMAL RECESSIVE (disorder)1CLINGEN
HgeneADCY1C3887506Hyperkinesia1CTD_human
TgeneC3711374Nonsyndromic Deafness10CLINGEN
TgeneC1832476Deafness, Autosomal Dominant 106CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1854368Cardiomyopathy, Dilated, 1J2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0009402Colorectal Carcinoma1CTD_human;UNIPROT
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC1384666hearing impairment1GENOMICS_ENGLAND