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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:AHCYL2-IP6K2 (FusionGDB2 ID:3062)

Fusion Gene Summary for AHCYL2-IP6K2

check button Fusion gene summary
Fusion gene informationFusion gene name: AHCYL2-IP6K2
Fusion gene ID: 3062
HgeneTgene
Gene symbol

AHCYL2

IP6K2

Gene ID

23382

51447

Gene nameadenosylhomocysteinase like 2inositol hexakisphosphate kinase 2
SynonymsADOHCYASE3|IRBIT2IHPK2|InsP6K2|PIUS
Cytomap

7q32.1

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionadenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3inositol hexakisphosphate kinase 2ATP:1D-myo-inositol-hexakisphosphate phosphotransferaseinositol hexaphosphate kinase 2insp6 kinase 2pi uptake stimulator
Modification date2020031320200327
UniProtAcc

Q96HN2

Q9UHH9

Ensembl transtripts involved in fusion geneENST00000446212, ENST00000474594, 
ENST00000325006, ENST00000446544, 
ENST00000472554, ENST00000490911, 
ENST00000531335, 
ENST00000328631, 
ENST00000340879, ENST00000413298, 
ENST00000417896, ENST00000431721, 
ENST00000432678, ENST00000436134, 
ENST00000443964, ENST00000446860, 
ENST00000449610, ENST00000450045, 
ENST00000453202, 
Fusion gene scores* DoF score9 X 6 X 4=21610 X 8 X 4=320
# samples 912
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/320*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHCYL2 [Title/Abstract] AND IP6K2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHCYL2(129008392)-IP6K2(48732854), # 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
TgeneIP6K2

GO:0043647

inositol phosphate metabolic process

30624931

TgeneIP6K2

GO:0046854

phosphatidylinositol phosphorylation

10574768


check buttonFusion gene breakpoints across AHCYL2 (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 IP6K2 (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
ChimerDB4COADTCGA-CM-4747-01AAHCYL2chr7

129008392

-IP6K2chr3

48732854

-


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Fusion Gene ORF analysis for AHCYL2-IP6K2

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-5UTRENST00000446212ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000446212ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
5CDS-5UTRENST00000474594ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000325006ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000446544ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000472554ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000490911ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000328631AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000340879AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000413298AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000417896AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000431721AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000432678AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000436134AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000443964AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000446860AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000449610AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000450045AHCYL2chr7

129008392

-IP6K2chr3

48732854

-
intron-5UTRENST00000531335ENST00000453202AHCYL2chr7

129008392

-IP6K2chr3

48732854

-

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 AHCYL2-IP6K2


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)

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 AHCYL2-IP6K2


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/:129008392/:48732854)
- 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
AHCYL2

Q96HN2

IP6K2

Q9UHH9

FUNCTION: May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705). {ECO:0000250|UniProtKB:A6QLP2, ECO:0000269|PubMed:19220705}.FUNCTION: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). {ECO:0000269|PubMed:10574768, ECO:0000269|PubMed:30624931}.

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 AHCYL2-IP6K2


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 AHCYL2-IP6K2


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 AHCYL2-IP6K2


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 AHCYL2-IP6K2


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