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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:CD28-KANSL2 (FusionGDB2 ID:HG940TG54934)

Fusion Gene Summary for CD28-KANSL2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD28-KANSL2
Fusion gene ID: hg940tg54934
HgeneTgene
Gene symbol

CD28

KANSL2

Gene ID

940

54934

Gene nameCD28 moleculeKAT8 regulatory NSL complex subunit 2
SynonymsTp44C12orf41|NSL2
Cytomap('CD28')('KANSL2')

2q33.2

12q13.11

Type of geneprotein-codingprotein-coding
DescriptionT-cell-specific surface glycoprotein CD28CD28 antigenKAT8 regulatory NSL complex subunit 2NSL complex protein NSL2non-specific lethal 2 homolog
Modification date2020031320200313
UniProtAcc

P10747

.
Ensembl transtripts involved in fusion geneENST00000324106, ENST00000374478, 
ENST00000374481, ENST00000458610, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 3 X 4=60
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD28 [Title/Abstract] AND KANSL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD28(204571472)-KANSL2(49048845), # samples:1
Anticipated loss of major functional domain due to fusion event.CD28-KANSL2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CD28-KANSL2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CD28-KANSL2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CD28-KANSL2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneCD28

GO:0032733

positive regulation of interleukin-10 production

8617933

HgeneCD28

GO:0032753

positive regulation of interleukin-4 production

8617933

HgeneCD28

GO:0042102

positive regulation of T cell proliferation

3159820|8617933

HgeneCD28

GO:0045066

regulatory T cell differentiation

18641304

HgeneCD28

GO:0045086

positive regulation of interleukin-2 biosynthetic process

3875683

HgeneCD28

GO:0045840

positive regulation of mitotic nuclear division

3159820

TgeneKANSL2

GO:0043981

histone H4-K5 acetylation

20018852

TgeneKANSL2

GO:0043982

histone H4-K8 acetylation

20018852

TgeneKANSL2

GO:0043984

histone H4-K16 acetylation

20018852



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CD28-KANSL2

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

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 CD28-KANSL2


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)


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Fusion Protein Features for CD28-KANSL2


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/:204571472/:49048845)
- 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
CD28

P10747

.
FUNCTION: Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation (PubMed:8617933). Isoform 3 enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). {ECO:0000269|PubMed:15067037, ECO:0000269|PubMed:8617933}.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}.

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 CD28-KANSL2


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 CD28-KANSL2


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 CD28-KANSL2


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 CD28-KANSL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD28C0003873Rheumatoid Arthritis3CTD_human
HgeneCD28C0004364Autoimmune Diseases2CTD_human
HgeneCD28C0079773Lymphoma, T-Cell, Cutaneous2CTD_human
HgeneCD28C0376407Granulomatous Slack Skin2CTD_human
HgeneCD28C0005138Berylliosis1CTD_human
HgeneCD28C0019693HIV Infections1CTD_human
HgeneCD28C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
HgeneCD28C0026948Mycosis Fungoides1ORPHANET
HgeneCD28C0036920Sezary Syndrome1ORPHANET
HgeneCD28C0079774Peripheral T-Cell Lymphoma1CTD_human
HgeneCD28C0263454Chloracne1CTD_human
HgeneCD28C2350873Beryllium Disease1CTD_human
HgeneCD28C4505456HIV Coinfection1CTD_human