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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:ATF7IP2-GNAS (FusionGDB2 ID:7468)

Fusion Gene Summary for ATF7IP2-GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: ATF7IP2-GNAS
Fusion gene ID: 7468
HgeneTgene
Gene symbol

ATF7IP2

GNAS

Gene ID

80063

2778

Gene nameactivating transcription factor 7 interacting protein 2GNAS complex locus
SynonymsMCAF2AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

16p13.2-p13.13

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionactivating transcription factor 7-interacting protein 2ATF7-interacting protein 2MBD1-containing chromatin associated factor 2protein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha
Modification date2020031320200329
UniProtAcc

Q5U623

P63092

Ensembl transtripts involved in fusion geneENST00000561932, ENST00000396559, 
ENST00000396560, ENST00000543967, 
ENST00000324570, ENST00000356427, 
ENST00000313949, ENST00000371075, 
ENST00000371098, ENST00000371100, 
ENST00000464624, ENST00000265620, 
ENST00000306090, ENST00000306120, 
ENST00000354359, ENST00000371081, 
ENST00000371085, ENST00000371095, 
ENST00000371099, ENST00000371102, 
Fusion gene scores* DoF score9 X 6 X 5=270111 X 41 X 18=81918
# samples 10111
** MAII scorelog2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(111/81918*10)=-6.20554891117303
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATF7IP2 [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATF7IP2(10479979)-GNAS(57470667), # 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

check buttonFusion gene breakpoints across ATF7IP2 (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 GNAS (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
ChimerDB4STADTCGA-BR-8678-01AATF7IP2chr16

10479979

+GNASchr20

57470667

+


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Fusion Gene ORF analysis for ATF7IP2-GNAS

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
3UTR-3UTRENST00000561932ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-3UTRENST00000561932ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-3UTRENST00000561932ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-3UTRENST00000561932ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-3UTRENST00000561932ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
3UTR-intronENST00000561932ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396559ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396559ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396559ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396559ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396559ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396560ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396560ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396560ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396560ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000396560ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000543967ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000543967ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000543967ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000543967ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-3UTRENST00000543967ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396559ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000396560ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
5UTR-intronENST00000543967ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000324570ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000324570ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000324570ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000324570ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000324570ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000356427ENST00000313949ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000356427ENST00000371075ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000356427ENST00000371098ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000356427ENST00000371100ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-3UTRENST00000356427ENST00000464624ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000324570ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000265620ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000306090ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000306120ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000354359ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000371081ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000371085ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000371095ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000371099ATF7IP2chr16

10479979

+GNASchr20

57470667

+
intron-intronENST00000356427ENST00000371102ATF7IP2chr16

10479979

+GNASchr20

57470667

+

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 ATF7IP2-GNAS


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)
ATF7IP2chr1610479979+GNASchr2057470666+6.08E-050.9999392
ATF7IP2chr1610479979+GNASchr2057470666+6.08E-050.9999392

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.
genomic feature of top 1%

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Fusion Protein Features for ATF7IP2-GNAS


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/:10479979/:57470667)
- 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
ATF7IP2

Q5U623

GNAS

P63092

FUNCTION: Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable). {ECO:0000305}.FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161). {ECO:0000269|PubMed:12391161, ECO:0000269|PubMed:17110384, ECO:0000269|PubMed:21488135, ECO:0000269|PubMed:26206488, ECO:0000269|PubMed:8702665}.

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 ATF7IP2-GNAS


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 ATF7IP2-GNAS


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 ATF7IP2-GNAS


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 ATF7IP2-GNAS


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