UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:IL6R-ARHGEF2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: IL6R-ARHGEF2
FusionPDB ID: 39571
FusionGDB2.0 ID: 39571
HgeneTgene
Gene symbol

IL6R

ARHGEF2

Gene ID

3570

9181

Gene nameinterleukin 6 receptorRho/Rac guanine nucleotide exchange factor 2
SynonymsCD126|IL-6R-1|IL-6RA|IL6Q|IL6RA|IL6RQ|gp80GEF|GEF-H1|GEFH1|LFP40|Lfc|NEDMHM|P40
Cytomap

1q21.3

1q22

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-6 receptor subunit alphaCD126 antigenIL-6 receptor subunit alphaIL-6R 1membrane glycoprotein 80rho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40
Modification date2020031320200313
UniProtAcc

P08887

Q8N1W1

Ensembl transtripts involved in fusion geneENST idsENST00000507256, ENST00000368485, 
ENST00000344086, 
ENST00000313695, 
ENST00000361247, ENST00000368315, 
ENST00000368316, ENST00000462460, 
ENST00000313667, ENST00000477754, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 6 X 5=1508 X 10 X 8=640
# samples 616
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/640*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: IL6R [Title/Abstract] AND ARHGEF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)IL6R(154427057)-ARHGEF2(155917806), # samples:1
Anticipated loss of major functional domain due to fusion event.IL6R-ARHGEF2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
IL6R-ARHGEF2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
IL6R-ARHGEF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
IL6R-ARHGEF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
IL6R-ARHGEF2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
IL6R-ARHGEF2 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
HgeneIL6R

GO:0008284

positive regulation of cell proliferation

2261637

HgeneIL6R

GO:0019221

cytokine-mediated signaling pathway

2261637

HgeneIL6R

GO:0032722

positive regulation of chemokine production

10510402

HgeneIL6R

GO:0032755

positive regulation of interleukin-6 production

10510402

HgeneIL6R

GO:0034097

response to cytokine

2261637

HgeneIL6R

GO:0048661

positive regulation of smooth muscle cell proliferation

10510402

HgeneIL6R

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

11884403

TgeneARHGEF2

GO:0032755

positive regulation of interleukin-6 production

21887730

TgeneARHGEF2

GO:0032760

positive regulation of tumor necrosis factor production

21887730

TgeneARHGEF2

GO:0045666

positive regulation of neuron differentiation

28453519

TgeneARHGEF2

GO:0045944

positive regulation of transcription by RNA polymerase II

21887730

TgeneARHGEF2

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21887730

TgeneARHGEF2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19043560|21887730

TgeneARHGEF2

GO:0055059

asymmetric neuroblast division

28453519

TgeneARHGEF2

GO:0071225

cellular response to muramyl dipeptide

21887730


check buttonFusion gene breakpoints across IL6R (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ARHGEF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-AN-A0XV-01AIL6Rchr1

154427057

+ARHGEF2chr1

155917806

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000368485IL6Rchr1154427057+ENST00000368315ARHGEF2chr1155917806-277415973111717468
ENST00000368485IL6Rchr1154427057+ENST00000361247ARHGEF2chr1155917806-275915973111717468

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
ENST00000368485ENST00000368315IL6Rchr1154427057+ARHGEF2chr1155917806-0.12502790.8749721
ENST00000368485ENST00000361247IL6Rchr1154427057+ARHGEF2chr1155917806-0.132247280.86775273

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>39571_39571_1_IL6R-ARHGEF2_IL6R_chr1_154427057_ENST00000368485_ARHGEF2_chr1_155917806_ENST00000361247_length(amino acids)=468AA_BP=428
MPPGPEPACPPTAPPRPCHPCRPVPISLSASAGPWSGSRGGSMLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCP
GVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRS
TPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVA
RNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTES
RSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRLYQNAGHPGGDGEPRRGGCSL

--------------------------------------------------------------

>39571_39571_2_IL6R-ARHGEF2_IL6R_chr1_154427057_ENST00000368485_ARHGEF2_chr1_155917806_ENST00000368315_length(amino acids)=468AA_BP=428
MPPGPEPACPPTAPPRPCHPCRPVPISLSASAGPWSGSRGGSMLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCP
GVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRS
TPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVA
RNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTES
RSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRLYQNAGHPGGDGEPRRGGCSL

--------------------------------------------------------------

Top

Fusion Protein Functional Features


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/chr1:154427057/chr1:155917806)
- 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
IL6R

P08887

ARHGEF2

Q8N1W1

FUNCTION: Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (PubMed:30995492, PubMed:31235509). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the liver and some cells of the immune system. Whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable). {ECO:0000269|PubMed:28265003, ECO:0000269|PubMed:31235509, ECO:0000305|PubMed:30995492}.; FUNCTION: [Isoform 1]: Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory (Probable). Drives naive CD4(+) T cells to the Th17 lineage, through 'cluster signaling' by dendritic cells (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000305|PubMed:30995492}.; FUNCTION: [Isoform 2]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000269|PubMed:12794819, ECO:0000269|PubMed:21990364}.; FUNCTION: [Soluble interleukin-6 receptor subunit alpha]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000269|PubMed:12794819, ECO:0000269|PubMed:21990364}.FUNCTION: Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+910113_217386.6666666666667469.0DomainFibronectin type-III 1
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+910218_316386.6666666666667469.0DomainFibronectin type-III 2
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+91026_112386.6666666666667469.0DomainNote=Ig-like C2-type
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+910303_307386.6666666666667469.0MotifNote=WSXWS motif
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+91020_365386.6666666666667469.0Topological domainExtracellular
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+910366_386386.6666666666667469.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+19113_2170366.0DomainFibronectin type-III 1
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+19218_3160366.0DomainFibronectin type-III 2
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+1926_1120366.0DomainNote=Ig-like C2-type
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+19303_3070366.0MotifNote=WSXWS motif
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+1920_3650366.0Topological domainExtracellular
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+19387_4680366.0Topological domainCytoplasmic
HgeneIL6Rchr1:154427057chr1:155917806ENST00000368485+910387_468386.6666666666667469.0Topological domainCytoplasmic
HgeneIL6Rchr1:154427057chr1:155917806ENST00000344086+19366_3860366.0TransmembraneHelical
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136672022587_611961.3333333333334986.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136672022798_867961.3333333333334986.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136952022587_611934.3333333333334959.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136952022798_867934.3333333333334959.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003612472022587_611962.3333333333334987.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003612472022798_867962.3333333333334987.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003683162426587_611934.3333333333334959.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003683162426798_867934.3333333333334959.0Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136672022235_432961.3333333333334986.0DomainDH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136672022472_571961.3333333333334986.0DomainPH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136952022235_432934.3333333333334959.0DomainDH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136952022472_571934.3333333333334959.0DomainPH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003612472022235_432962.3333333333334987.0DomainDH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003612472022472_571962.3333333333334987.0DomainPH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003683162426235_432934.3333333333334959.0DomainDH
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003683162426472_571934.3333333333334959.0DomainPH
TgeneARHGEF2chr1:154427057chr1:155917806ENST00000313667202239_86961.3333333333334986.0Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:154427057chr1:155917806ENST00000313695202239_86934.3333333333334959.0Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:154427057chr1:155917806ENST00000361247202239_86962.3333333333334987.0Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:154427057chr1:155917806ENST00000368316242639_86934.3333333333334959.0Zinc fingerPhorbol-ester/DAG-type


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
IL6RIL6, CNTF, IL6ST, STAT3, ADRB2, TBCK, PPP1R21, MID1, C12orf4, CRYZL1, FANCB, FANCL, C17orf70, CETN2, COPRS, HNRNPL, SGTB, ATM, LCK, PIK3R3, TNF, FBXO2, PDDC1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
IL6Rall structure
ARHGEF2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136672022131_161961.3333333333334986.0DYNLT1
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003136952022131_161934.3333333333334959.0DYNLT1
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003612472022131_161962.3333333333334987.0DYNLT1
TgeneARHGEF2chr1:154427057chr1:155917806ENST000003683162426131_161934.3333333333334959.0DYNLT1


Top

Related Drugs to IL6R-ARHGEF2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to IL6R-ARHGEF2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL6RC0003873Rheumatoid Arthritis2CTD_human
HgeneIL6RC0001787Osteoporosis, Age-Related1CTD_human
HgeneIL6RC0004096Asthma1CTD_human
HgeneIL6RC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneIL6RC0007134Renal Cell Carcinoma1CTD_human
HgeneIL6RC0011570Mental Depression1PSYGENET
HgeneIL6RC0011581Depressive disorder1PSYGENET
HgeneIL6RC0013595Eczema1GENOMICS_ENGLAND
HgeneIL6RC0024623Malignant neoplasm of stomach1CTD_human
HgeneIL6RC0029456Osteoporosis1CTD_human
HgeneIL6RC0029459Osteoporosis, Senile1CTD_human
HgeneIL6RC0036341Schizophrenia1CTD_human
HgeneIL6RC0038356Stomach Neoplasms1CTD_human
HgeneIL6RC0239998Recurrent infections1GENOMICS_ENGLAND
HgeneIL6RC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneIL6RC0751406Post-Traumatic Osteoporosis1CTD_human
HgeneIL6RC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneIL6RC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneIL6RC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneIL6RC1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneIL6RC1708349Hereditary Diffuse Gastric Cancer1CTD_human