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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:ADCK3-AHCYL1 (FusionGDB2 ID:2314)

Fusion Gene Summary for ADCK3-AHCYL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADCK3-AHCYL1
Fusion gene ID: 2314
HgeneTgene
Gene symbol

ADCK3

AHCYL1

Gene ID

56997

10768

Gene namecoenzyme Q8Aadenosylhomocysteinase like 1
SynonymsADCK3|ARCA2|CABC1|COQ10D4|COQ8|SCAR9DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA
Cytomap

1q42.13

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionatypical kinase COQ8A, mitochondrialaarF domain-containing protein kinase 3atypical kinase ADCK3, mitochondrialchaperone activity of bc1 complex-like, mitochondrialchaperone, ABC1 activity of bc1 complex homologcoenzyme Q protein 8Acoenzyme Q8 homolS-adenosylhomocysteine hydrolase-like protein 1DC-expressed AHCY-like moleculeIP(3)Rs binding protein released with IP(3)S-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2adenosylhomocysteinase 2adoHcyase 2dendritic cell
Modification date2020031320200313
UniProtAcc.

O43865

Ensembl transtripts involved in fusion geneENST00000366779, ENST00000366778, 
ENST00000366777, ENST00000458507, 
ENST00000478406, ENST00000433743, 
ENST00000369799, ENST00000475081, 
ENST00000359172, ENST00000393614, 
Fusion gene scores* DoF score3 X 1 X 3=911 X 13 X 4=572
# samples 412
** MAII scorelog2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/572*10)=-2.25298074116987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADCK3 [Title/Abstract] AND AHCYL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADCK3(227128100)-AHCYL1(110551655), # samples:1
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
HgeneADCK3

GO:0006468

protein phosphorylation

27499294

HgeneADCK3

GO:0016310

phosphorylation

25498144|27499294

TgeneAHCYL1

GO:0006378

mRNA polyadenylation

19224921

TgeneAHCYL1

GO:0031440

regulation of mRNA 3'-end processing

19224921

TgeneAHCYL1

GO:0038166

angiotensin-activated signaling pathway

20584908

TgeneAHCYL1

GO:0051592

response to calcium ion

18829453


check buttonFusion gene breakpoints across ADCK3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across AHCYL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4THCATCGA-EM-A3SUADCK3chr1

227128100

+AHCYL1chr1

110551655

+


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Fusion Gene ORF analysis for ADCK3-AHCYL1

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
intron-3CDSENST00000366779ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-3UTRENST00000366779ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-5UTRENST00000366779ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-5UTRENST00000366779ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3CDSENST00000366778ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3UTRENST00000366778ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000366778ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000366778ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3CDSENST00000366777ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3UTRENST00000366777ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000366777ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000366777ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3CDSENST00000458507ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-3UTRENST00000458507ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000458507ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
5UTR-5UTRENST00000458507ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
3UTR-3CDSENST00000478406ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
3UTR-3UTRENST00000478406ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
3UTR-5UTRENST00000478406ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
3UTR-5UTRENST00000478406ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-3CDSENST00000433743ENST00000369799ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-3UTRENST00000433743ENST00000475081ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-5UTRENST00000433743ENST00000359172ADCK3chr1

227128100

+AHCYL1chr1

110551655

+
intron-5UTRENST00000433743ENST00000393614ADCK3chr1

227128100

+AHCYL1chr1

110551655

+

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 ADCK3-AHCYL1


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)
ADCK3chr1227128100+AHCYL1chr1110551655+7.95E-050.9999205
ADCK3chr1227128100+AHCYL1chr1110551655+7.95E-050.9999205

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for ADCK3-AHCYL1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.AHCYL1

O43865

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate, competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. Promotes the formation of contact points between the endoplasmic reticulum (ER) and mitochondria, facilitating transfer of Ca(2+) from the ER to mitochondria (PubMed:27995898). Under normal cellular conditions, functions cooperatively with BCL2L10 to limit ITPR1-mediated Ca(2+) release but, under apoptotic stress conditions, dephosphorylated which promotes dissociation of both AHCYL1 and BCL2L10 from mitochondria-associated endoplasmic reticulum membranes, inhibits BCL2L10 interaction with ITPR1 and leads to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898). In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates from ITPR1 to interact with CFTR and SLC26A6, mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity). {ECO:0000250|UniProtKB:B5DFN2, ECO:0000250|UniProtKB:Q80SW1, ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:16793548, ECO:0000269|PubMed:18829453, ECO:0000269|PubMed:19224921, ECO:0000269|PubMed:20584908, ECO:0000269|PubMed:25237103, ECO:0000269|PubMed:27995898}.

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 ADCK3-AHCYL1


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 ADCK3-AHCYL1


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 ADCK3-AHCYL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ADCK3-AHCYL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource