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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AHCYL1-ZFYVE9

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AHCYL1-ZFYVE9
FusionPDB ID: 3058
FusionGDB2.0 ID: 3058
HgeneTgene
Gene symbol

AHCYL1

ZFYVE9

Gene ID

10768

9372

Gene nameadenosylhomocysteinase like 1zinc finger FYVE-type containing 9
SynonymsDCAL|IRBIT|PPP1R78|PRO0233|XPVKONAMADHIP|NSP|PPP1R173|SARA|SMADIP
Cytomap

1p13.3

1p32.3

Type of geneprotein-codingprotein-coding
DescriptionS-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 cellzinc finger FYVE domain-containing protein 9MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchorMADH-interacting proteinnovel serine proteaseprotein phosphatase 1, regulatory subunit 173smad anchor for receptor
Modification date2020031320200313
UniProtAcc

O43865

.
Ensembl transtripts involved in fusion geneENST idsENST00000475081, ENST00000369799, 
ENST00000359172, ENST00000393614, 
ENST00000287727, ENST00000357206, 
ENST00000371591, ENST00000469134, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 9 X 4=4327 X 6 X 4=168
# samples 147
** MAII scorelog2(14/432*10)=-1.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AHCYL1 [Title/Abstract] AND ZFYVE9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AHCYL1(110527794)-ZFYVE9(52798440), # samples:1
Anticipated loss of major functional domain due to fusion event.AHCYL1-ZFYVE9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AHCYL1-ZFYVE9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneAHCYL1

GO:0006378

mRNA polyadenylation

19224921

HgeneAHCYL1

GO:0031440

regulation of mRNA 3'-end processing

19224921

HgeneAHCYL1

GO:0038166

angiotensin-activated signaling pathway

20584908

HgeneAHCYL1

GO:0051592

response to calcium ion

18829453


check buttonFusion gene breakpoints across AHCYL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ZFYVE9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-HU-A4GH-01AAHCYL1chr1

110527794

+ZFYVE9chr1

52798440

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000369799AHCYL1chr1110527794+ENST00000357206ZFYVE9chr152798440+1621487401326428
ENST00000369799AHCYL1chr1110527794+ENST00000287727ZFYVE9chr152798440+1791487401326428
ENST00000369799AHCYL1chr1110527794+ENST00000371591ZFYVE9chr152798440+1792487401326428

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
ENST00000369799ENST00000357206AHCYL1chr1110527794+ZFYVE9chr152798440+0.0014194440.9985806
ENST00000369799ENST00000287727AHCYL1chr1110527794+ZFYVE9chr152798440+0.0016904970.9983095
ENST00000369799ENST00000371591AHCYL1chr1110527794+ZFYVE9chr152798440+0.001675190.9983248

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>3058_3058_1_AHCYL1-ZFYVE9_AHCYL1_chr1_110527794_ENST00000369799_ZFYVE9_chr1_52798440_ENST00000287727_length(amino acids)=428AA_BP=149
MPVLDVASPPSTLALRACLRTAEVAARAGRSSELLFWFSCGRRRCPAALGCRTDKAWATAPQKPTQLDAGAGRRVGDRVSEGAARAGGRA
PEGERGGGGGSAAGRAGRGMSMPDAMPLPGVGEELKQAKEIEDAEKYSFMATVTKAPKKMMKAMNKSNEHVLAGGACFNEKADSHLVCVQ
NDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQ
WVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKED

--------------------------------------------------------------

>3058_3058_2_AHCYL1-ZFYVE9_AHCYL1_chr1_110527794_ENST00000369799_ZFYVE9_chr1_52798440_ENST00000357206_length(amino acids)=428AA_BP=149
MPVLDVASPPSTLALRACLRTAEVAARAGRSSELLFWFSCGRRRCPAALGCRTDKAWATAPQKPTQLDAGAGRRVGDRVSEGAARAGGRA
PEGERGGGGGSAAGRAGRGMSMPDAMPLPGVGEELKQAKEIEDAEKYSFMATVTKAPKKMMKAMNKSNEHVLAGGACFNEKADSHLVCVQ
NDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQ
WVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKED

--------------------------------------------------------------

>3058_3058_3_AHCYL1-ZFYVE9_AHCYL1_chr1_110527794_ENST00000369799_ZFYVE9_chr1_52798440_ENST00000371591_length(amino acids)=428AA_BP=149
MPVLDVASPPSTLALRACLRTAEVAARAGRSSELLFWFSCGRRRCPAALGCRTDKAWATAPQKPTQLDAGAGRRVGDRVSEGAARAGGRA
PEGERGGGGGSAAGRAGRGMSMPDAMPLPGVGEELKQAKEIEDAEKYSFMATVTKAPKKMMKAMNKSNEHVLAGGACFNEKADSHLVCVQ
NDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQ
WVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKED

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Fusion Protein Functional Features


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/chr1:110527794/chr1:52798440)
- 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
AHCYL1

O43865

.
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}.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.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+117318_3220484.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+117397_3990484.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+117318_32240.0531.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+117397_39940.0531.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+117318_3220484.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+117397_3990484.0Nucleotide bindingNAD
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+117281_4480484.0RegionNAD binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+117520_5300484.0RegionPDZ-binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+11765_920484.0RegionPEST
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+117281_44840.0531.0RegionNAD binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+117520_53040.0531.0RegionPDZ-binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+11765_9240.0531.0RegionPEST
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+117281_4480484.0RegionNAD binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+117520_5300484.0RegionPDZ-binding
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+11765_920484.0RegionPEST
TgeneZFYVE9chr1:110527794chr1:52798440ENST000002877271219767_8231146.01426.0RegionNote=SBD
TgeneZFYVE9chr1:110527794chr1:52798440ENST000003572061118767_8231087.01367.0RegionNote=SBD
TgeneZFYVE9chr1:110527794chr1:52798440ENST000003715911118767_8231146.01426.0RegionNote=SBD
TgeneZFYVE9chr1:110527794chr1:52798440ENST000002877271219699_7581146.01426.0Zinc fingerFYVE-type
TgeneZFYVE9chr1:110527794chr1:52798440ENST000003572061118699_7581087.01367.0Zinc fingerFYVE-type
TgeneZFYVE9chr1:110527794chr1:52798440ENST000003715911118699_7581146.01426.0Zinc fingerFYVE-type


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AHCYL1
ZFYVE9


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000359172+117138_2010484.0BCL2L10
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000369799+117138_20140.0531.0BCL2L10
HgeneAHCYL1chr1:110527794chr1:52798440ENST00000393614+117138_2010484.0BCL2L10


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Related Drugs to AHCYL1-ZFYVE9


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to AHCYL1-ZFYVE9


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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