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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:KIAA1211-GNAS (FusionGDB2 ID:42256)

Fusion Gene Summary for KIAA1211-GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1211-GNAS
Fusion gene ID: 42256
HgeneTgene
Gene symbol

KIAA1211

GNAS

Gene ID

57482

2778

Gene namecapping protein inhibiting regulator of actin dynamicsGNAS complex locus
SynonymsCRAD|KIAA1211AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

4q12

20q13.32

Type of geneprotein-codingprotein-coding
Descriptioncancer-related regulator of actin dynamicsprotein 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.

P63092

Ensembl transtripts involved in fusion geneENST00000264229, ENST00000504228, 
ENST00000505410, ENST00000541073, 
ENST00000313949, ENST00000371075, 
ENST00000371100, ENST00000464624, 
ENST00000265620, ENST00000306090, 
ENST00000306120, ENST00000354359, 
ENST00000371081, ENST00000371085, 
ENST00000371095, ENST00000371098, 
ENST00000371099, ENST00000371102, 
Fusion gene scores* DoF score8 X 3 X 5=120111 X 41 X 18=81918
# samples 7111
** MAII scorelog2(7/120*10)=-0.777607578663552
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: KIAA1211 [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA1211(57045596)-GNAS(57480437), # 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
HgeneKIAA1211

GO:0030838

positive regulation of actin filament polymerization

30361697

HgeneKIAA1211

GO:2000813

negative regulation of barbed-end actin filament capping

30361697


check buttonFusion gene breakpoints across KIAA1211 (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-SW-A7EAKIAA1211chr4

57045596

+GNASchr20

57480437

+


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Fusion Gene ORF analysis for KIAA1211-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
5UTR-3UTRENST00000264229ENST00000313949KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-3UTRENST00000264229ENST00000371075KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-3UTRENST00000264229ENST00000371100KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-3UTRENST00000264229ENST00000464624KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000265620KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000306090KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000306120KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000354359KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371081KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371085KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371095KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371098KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371099KIAA1211chr4

57045596

+GNASchr20

57480437

+
5UTR-intronENST00000264229ENST00000371102KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000504228ENST00000313949KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000504228ENST00000371075KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000504228ENST00000371100KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000504228ENST00000464624KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000505410ENST00000313949KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000505410ENST00000371075KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000505410ENST00000371100KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000505410ENST00000464624KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000541073ENST00000313949KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000541073ENST00000371075KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000541073ENST00000371100KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-3UTRENST00000541073ENST00000464624KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000265620KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000306090KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000306120KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000354359KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371081KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371085KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371095KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371098KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371099KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000504228ENST00000371102KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000265620KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000306090KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000306120KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000354359KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371081KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371085KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371095KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371098KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371099KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000505410ENST00000371102KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000265620KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000306090KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000306120KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000354359KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371081KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371085KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371095KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371098KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371099KIAA1211chr4

57045596

+GNASchr20

57480437

+
intron-intronENST00000541073ENST00000371102KIAA1211chr4

57045596

+GNASchr20

57480437

+

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 KIAA1211-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)
KIAA1211chr457045596+GNASchr2057480437+4.58E-131
KIAA1211chr457045596+GNASchr2057480437+4.58E-131

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 KIAA1211-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/:57045596/:57480437)
- 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

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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 KIAA1211-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 KIAA1211-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 KIAA1211-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 KIAA1211-GNAS


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