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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:GNAS-INPP5K (FusionGDB2 ID:33629)

Fusion Gene Summary for GNAS-INPP5K

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS-INPP5K
Fusion gene ID: 33629
HgeneTgene
Gene symbol

GNAS

INPP5K

Gene ID

2778

51763

Gene nameGNAS complex locusinositol polyphosphate-5-phosphatase K
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVIMDCCAID|PPS|SKIP
Cytomap

20q13.32

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein 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 inositol polyphosphate 5-phosphatase Kphosphatidylinositol-3,4,5-trisphosphate 5-phosphatasephosphatidylinositol-4,5-bisphosphate 5-phosphataseskeletal muscle and kidney-enriched inositol phosphatase
Modification date2020032920200327
UniProtAcc

P63092

Q9BT40

Ensembl transtripts involved in fusion geneENST00000313949, ENST00000371075, 
ENST00000464624, ENST00000265620, 
ENST00000306090, ENST00000354359, 
ENST00000371085, ENST00000371095, 
ENST00000371100, ENST00000371102, 
ENST00000306120, ENST00000371081, 
ENST00000371098, ENST00000371099, 
ENST00000320345, ENST00000397335, 
ENST00000406424, ENST00000421807, 
ENST00000542125, 
Fusion gene scores* DoF score44 X 25 X 16=176004 X 4 X 4=64
# samples 515
** MAII scorelog2(51/17600*10)=-5.10893437155316
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND INPP5K [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNAS(57485456)-INPP5K(1411667), # 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
TgeneINPP5K

GO:0006469

negative regulation of protein kinase activity

12556481

TgeneINPP5K

GO:0010801

negative regulation of peptidyl-threonine phosphorylation

12556481

TgeneINPP5K

GO:0010829

negative regulation of glucose transmembrane transport

12556481

TgeneINPP5K

GO:0016311

dephosphorylation

21712384

TgeneINPP5K

GO:0032869

cellular response to insulin stimulus

12556481

TgeneINPP5K

GO:0033137

negative regulation of peptidyl-serine phosphorylation

12556481

TgeneINPP5K

GO:0043407

negative regulation of MAP kinase activity

12556481

TgeneINPP5K

GO:0043922

negative regulation by host of viral transcription

18774950

TgeneINPP5K

GO:0045719

negative regulation of glycogen biosynthetic process

12556481

TgeneINPP5K

GO:0045869

negative regulation of single stranded viral RNA replication via double stranded DNA intermediate

18774950

TgeneINPP5K

GO:0046627

negative regulation of insulin receptor signaling pathway

12556481

TgeneINPP5K

GO:0046855

inositol phosphate dephosphorylation

12536145

TgeneINPP5K

GO:0046856

phosphatidylinositol dephosphorylation

12536145|12556481

TgeneINPP5K

GO:0051497

negative regulation of stress fiber assembly

12556481

TgeneINPP5K

GO:0051898

negative regulation of protein kinase B signaling

12556481

TgeneINPP5K

GO:0051926

negative regulation of calcium ion transport

12556481

TgeneINPP5K

GO:0071356

cellular response to tumor necrosis factor

21712384

TgeneINPP5K

GO:0071364

cellular response to epidermal growth factor stimulus

21712384

TgeneINPP5K

GO:0090315

negative regulation of protein targeting to membrane

12556481

TgeneINPP5K

GO:0097178

ruffle assembly

12556481


check buttonFusion gene breakpoints across GNAS (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 INPP5K (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-BJ-A45F-01AGNASchr20

57485456

+INPP5Kchr17

1411667

-


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Fusion Gene ORF analysis for GNAS-INPP5K

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-intronENST00000313949ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000313949ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000313949ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000313949ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000313949ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000371075ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000371075ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000371075ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000371075ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000371075ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000464624ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000464624ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000464624ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000464624ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
3UTR-intronENST00000464624ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000265620ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000265620ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000265620ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000265620ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000265620ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000306090ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000306090ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000306090ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000306090ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000306090ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000354359ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000354359ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000354359ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000354359ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000354359ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371085ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371085ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371085ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371085ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371085ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371095ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371095ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371095ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371095ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371095ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371100ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371100ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371100ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371100ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371100ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371102ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371102ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371102ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371102ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
5CDS-intronENST00000371102ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000306120ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000306120ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000306120ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000306120ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000306120ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371081ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371081ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371081ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371081ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371081ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371098ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371098ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371098ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371098ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371098ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371099ENST00000320345GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371099ENST00000397335GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371099ENST00000406424GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371099ENST00000421807GNASchr20

57485456

+INPP5Kchr17

1411667

-
intron-intronENST00000371099ENST00000542125GNASchr20

57485456

+INPP5Kchr17

1411667

-

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 GNAS-INPP5K


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 GNAS-INPP5K


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/:57485456/:1411667)
- 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
GNAS

P63092

INPP5K

Q9BT40

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}.FUNCTION: Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity). {ECO:0000250|UniProtKB:Q8C5L6, ECO:0000269|PubMed:10753883, ECO:0000269|PubMed:16824732, ECO:0000269|PubMed:28190456, ECO:0000269|PubMed:28190459}.

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 GNAS-INPP5K


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 GNAS-INPP5K


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 GNAS-INPP5K


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 GNAS-INPP5K


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