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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:LILRB1-IQSEC2 (FusionGDB2 ID:44676)

Fusion Gene Summary for LILRB1-IQSEC2

check button Fusion gene summary
Fusion gene informationFusion gene name: LILRB1-IQSEC2
Fusion gene ID: 44676
HgeneTgene
Gene symbol

LILRB1

IQSEC2

Gene ID

10859

23096

Gene nameleukocyte immunoglobulin like receptor B1IQ motif and Sec7 domain ArfGEF 2
SynonymsCD85J|ILT-2|ILT2|LIR-1|LIR1|MIR-7|MIR7|PIR-B|PIRBBRAG1|IQ-ArfGEF|MRX1|MRX18|MRX78
Cytomap

19q13.42

Xp11.22

Type of geneprotein-codingprotein-coding
Descriptionleukocyte immunoglobulin-like receptor subfamily B member 1CD85 antigen-like family member JIg-like transcript 2leucocyte Ig-like receptor B1leukocyte immunoglobulin-like receptor subfamily B member 1 soluble isoformleukocyte immunoglobulin-like receIQ motif and SEC7 domain-containing protein 2IQ motif and Sec7 domain 2brefeldin A resistant Arf-guanine nucleotide exchange factor 1brefeldin A resistant Arf-guanine nucleotide exchange factor 1bbrefeldin A resistant Arf-guanine nucleotide exchange f
Modification date2020031320200313
UniProtAcc

Q8NHL6

.
Ensembl transtripts involved in fusion geneENST00000324602, ENST00000396315, 
ENST00000396317, ENST00000396321, 
ENST00000396327, ENST00000396331, 
ENST00000396332, ENST00000418536, 
ENST00000427581, ENST00000434867, 
ENST00000448689, ENST00000462628, 
ENST00000375365, ENST00000375368, 
ENST00000396435, ENST00000462054, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 5 X 1=25
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LILRB1 [Title/Abstract] AND IQSEC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLILRB1(541100)-IQSEC2(53313115), # 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
HgeneLILRB1

GO:0001915

negative regulation of T cell mediated cytotoxicity

21213105

HgeneLILRB1

GO:0002230

positive regulation of defense response to virus by host

18398485

HgeneLILRB1

GO:0002309

T cell proliferation involved in immune response

18094328

HgeneLILRB1

GO:0002740

negative regulation of cytokine secretion involved in immune response

18094328

HgeneLILRB1

GO:0002774

Fc receptor mediated inhibitory signaling pathway

9842885

HgeneLILRB1

GO:0007165

signal transduction

18802077

HgeneLILRB1

GO:0009615

response to virus

9285411|17869268|18094328

HgeneLILRB1

GO:0010628

positive regulation of gene expression

18094328

HgeneLILRB1

GO:0014063

negative regulation of serotonin secretion

11907092

HgeneLILRB1

GO:0032609

interferon-gamma production

11907092

HgeneLILRB1

GO:0032689

negative regulation of interferon-gamma production

17869268

HgeneLILRB1

GO:0032945

negative regulation of mononuclear cell proliferation

21551166

HgeneLILRB1

GO:0035548

negative regulation of interferon-beta secretion

21213105

HgeneLILRB1

GO:0042130

negative regulation of T cell proliferation

15585844

HgeneLILRB1

GO:0042536

negative regulation of tumor necrosis factor biosynthetic process

18684926

HgeneLILRB1

GO:0043065

positive regulation of apoptotic process

21551166

HgeneLILRB1

GO:0045077

negative regulation of interferon-gamma biosynthetic process

18684926

HgeneLILRB1

GO:0045786

negative regulation of cell cycle

21551166

HgeneLILRB1

GO:0045806

negative regulation of endocytosis

18094328

HgeneLILRB1

GO:0045953

negative regulation of natural killer cell mediated cytotoxicity

12874224|18398485

HgeneLILRB1

GO:0046636

negative regulation of alpha-beta T cell activation

21213105

HgeneLILRB1

GO:0051607

defense response to virus

15585844

HgeneLILRB1

GO:0051926

negative regulation of calcium ion transport

9842885

HgeneLILRB1

GO:0060907

positive regulation of macrophage cytokine production

19304799

HgeneLILRB1

GO:0072643

interferon-gamma secretion

15585844

HgeneLILRB1

GO:2000669

negative regulation of dendritic cell apoptotic process

18094328

HgeneLILRB1

GO:2001180

negative regulation of interleukin-10 secretion

18094328

HgeneLILRB1

GO:2001183

negative regulation of interleukin-12 secretion

18094328

HgeneLILRB1

GO:2001186

negative regulation of CD8-positive, alpha-beta T cell activation

21213105

HgeneLILRB1

GO:2001189

negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell

18094328

HgeneLILRB1

GO:2001193

positive regulation of gamma-delta T cell activation involved in immune response

21233315

HgeneLILRB1

GO:2001202

negative regulation of transforming growth factor-beta secretion

18094328

HgeneLILRB1

GO:2001205

negative regulation of osteoclast development

18802077

TgeneIQSEC2

GO:0050804

modulation of chemical synaptic transmission

27009485

TgeneIQSEC2

GO:0098696

regulation of neurotransmitter receptor localization to postsynaptic specialization membrane

27009485


check buttonFusion gene breakpoints across LILRB1 (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 IQSEC2 (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
ChiTaRS5.0N/AEU981702LILRB1chr19

541100

-IQSEC2chrX

53313115

-


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Fusion Gene ORF analysis for LILRB1-IQSEC2

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
intron-intronENST00000324602ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000324602ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000324602ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000324602ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396315ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396315ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396315ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396315ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396317ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396317ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396317ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396317ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396321ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396321ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396321ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396321ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396327ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396327ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396327ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396327ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396331ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396331ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396331ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396331ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396332ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396332ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396332ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000396332ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000418536ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000418536ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000418536ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000418536ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000427581ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000427581ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000427581ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000427581ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000434867ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000434867ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000434867ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000434867ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000448689ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000448689ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000448689ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000448689ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000462628ENST00000375365LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000462628ENST00000375368LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000462628ENST00000396435LILRB1chr19

541100

-IQSEC2chrX

53313115

-
intron-intronENST00000462628ENST00000462054LILRB1chr19

541100

-IQSEC2chrX

53313115

-

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 LILRB1-IQSEC2


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 LILRB1-IQSEC2


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/:541100/:53313115)
- 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
LILRB1

Q8NHL6

.
FUNCTION: Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:16455647, PubMed:28636952). Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of FCER1A signaling and serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions (PubMed:11907092, PubMed:9285411, PubMed:9842885). Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (PubMed:16455647). Upon interaction with peptide-bound HLA-G-B2M complex, triggers secretion of growth-promoting factors by decidual NK cells (PubMed:29262349, PubMed:19304799). Reprograms B cells toward an immune suppressive phenotype (PubMed:24453251). {ECO:0000269|PubMed:11907092, ECO:0000269|PubMed:16455647, ECO:0000269|PubMed:19304799, ECO:0000269|PubMed:24453251, ECO:0000269|PubMed:28636952, ECO:0000269|PubMed:29262349, ECO:0000269|PubMed:9285411, ECO:0000269|PubMed:9842885}.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 LILRB1-IQSEC2


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 LILRB1-IQSEC2


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 LILRB1-IQSEC2


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 LILRB1-IQSEC2


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