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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:GPHN-AHCYL2 (FusionGDB2 ID:34235)

Fusion Gene Summary for GPHN-AHCYL2

check button Fusion gene summary
Fusion gene informationFusion gene name: GPHN-AHCYL2
Fusion gene ID: 34235
HgeneTgene
Gene symbol

GPHN

AHCYL2

Gene ID

10243

23382

Gene namegephyrinadenosylhomocysteinase like 2
SynonymsGEPH|GPH|GPHRYN|HKPX1|MOCODCADOHCYASE3|IRBIT2
Cytomap

14q23.3-q24.1

7q32.1

Type of geneprotein-codingprotein-coding
Descriptiongephyrinadenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3
Modification date2020031320200313
UniProtAcc

Q9NQX3

Q96HN2

Ensembl transtripts involved in fusion geneENST00000305960, ENST00000315266, 
ENST00000459628, ENST00000478722, 
ENST00000543237, ENST00000544752, 
ENST00000325006, ENST00000446212, 
ENST00000446544, ENST00000472554, 
ENST00000474594, ENST00000490911, 
ENST00000531335, 
Fusion gene scores* DoF score38 X 33 X 10=1254015 X 14 X 6=1260
# samples 4017
** MAII scorelog2(40/12540*10)=-4.97039353791468
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1260*10)=-2.88981708224958
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointGPHN(67624521)-AHCYL2(128899833), # 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
HgeneGPHN

GO:0032324

molybdopterin cofactor biosynthetic process

26613940

HgeneGPHN

GO:0097112

gamma-aminobutyric acid receptor clustering

26613940


check buttonFusion gene breakpoints across GPHN (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 AHCYL2 (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
ChiTaRS5.0N/AEC448156GPHNchr14

67624521

+AHCYL2chr7

128899833

+


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Fusion Gene ORF analysis for GPHN-AHCYL2

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-intronENST00000305960ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000305960ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000315266ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000459628ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000478722ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000543237ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000325006GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000446212GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000446544GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000472554GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000474594GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000490911GPHNchr14

67624521

+AHCYL2chr7

128899833

+
intron-intronENST00000544752ENST00000531335GPHNchr14

67624521

+AHCYL2chr7

128899833

+

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 GPHN-AHCYL2


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 GPHN-AHCYL2


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/:67624521/:128899833)
- 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
GPHN

Q9NQX3

AHCYL2

Q96HN2

FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}.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}.

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 GPHN-AHCYL2


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 GPHN-AHCYL2


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 GPHN-AHCYL2


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 GPHN-AHCYL2


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