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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:GTF2I-NOS1AP (FusionGDB2 ID:35227)

Fusion Gene Summary for GTF2I-NOS1AP

check button Fusion gene summary
Fusion gene informationFusion gene name: GTF2I-NOS1AP
Fusion gene ID: 35227
HgeneTgene
Gene symbol

GTF2I

NOS1AP

Gene ID

2969

9722

Gene namegeneral transcription factor IIinitric oxide synthase 1 adaptor protein
SynonymsBAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR66330408P19Rik|CAPON
Cytomap

7q11.23

1q23.3

Type of geneprotein-codingprotein-coding
Descriptiongeneral transcription factor II-IBTK-associated protein, 135kDBruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosome region 6carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase proteinC-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)C-terminal PDZ ligand of neuronal nitric oxide synthase proteinligand of neuronal nitric oxide synthase with car
Modification date2020031320200313
UniProtAcc

P78347

O75052

Ensembl transtripts involved in fusion geneENST00000324896, ENST00000346152, 
ENST00000353920, ENST00000416070, 
ENST00000438130, ENST00000443166, 
ENST00000361897, ENST00000454693, 
ENST00000493151, ENST00000530878, 
Fusion gene scores* DoF score13 X 15 X 8=15609 X 10 X 7=630
# samples 1411
** MAII scorelog2(14/1560*10)=-3.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/630*10)=-2.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GTF2I [Title/Abstract] AND NOS1AP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGTF2I(74163788)-NOS1AP(162270423), # 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
HgeneGTF2I

GO:0016525

negative regulation of angiogenesis

19242469

TgeneNOS1AP

GO:0098974

postsynaptic actin cytoskeleton organization

26869880


check buttonFusion gene breakpoints across GTF2I (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 NOS1AP (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
ChimerDB4SKCMTCGA-FS-A1Z4-06AGTF2Ichr7

74163788

+NOS1APchr1

162270423

+


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Fusion Gene ORF analysis for GTF2I-NOS1AP

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-intronENST00000324896ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000324896ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000324896ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000324896ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000346152ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000346152ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000346152ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000346152ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000353920ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000353920ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000353920ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000353920ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000416070ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000416070ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000416070ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000416070ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000438130ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000438130ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000438130ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
5CDS-intronENST00000438130ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
intron-intronENST00000443166ENST00000361897GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
intron-intronENST00000443166ENST00000454693GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
intron-intronENST00000443166ENST00000493151GTF2Ichr7

74163788

+NOS1APchr1

162270423

+
intron-intronENST00000443166ENST00000530878GTF2Ichr7

74163788

+NOS1APchr1

162270423

+

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 GTF2I-NOS1AP


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)
GTF2Ichr774163789+NOS1APchr1162270422+8.75E-050.9999125
GTF2Ichr774163789+NOS1APchr1162270422+8.75E-050.9999125

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 GTF2I-NOS1AP


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/:74163788/:162270423)
- 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
GTF2I

P78347

NOS1AP

O75052

FUNCTION: Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. {ECO:0000269|PubMed:10373551, ECO:0000269|PubMed:11373296, ECO:0000269|PubMed:16738337}.FUNCTION: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). {ECO:0000250}.

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 GTF2I-NOS1AP


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 GTF2I-NOS1AP


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 GTF2I-NOS1AP


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 GTF2I-NOS1AP


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