FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 18622

FusionGeneSummary for KIAA0907_ARHGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0907_ARHGEF2
Fusion gene ID: 18622
HgeneTgene
Gene symbol

KIAA0907

ARHGEF2

Gene ID

9181

Gene nameRho/Rac guanine nucleotide exchange factor 2
SynonymsGEF|GEF-H1|GEFH1|LFP40|NEDMHM|P40
Cytomap

1q22

Type of geneprotein-coding
Descriptionrho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40
Modification date20180522
UniProtAcc

Q92974

Ensembl transtripts involved in fusion geneENST00000368321, ENST00000368320, 
ENST00000368319, ENST00000482337, 
ENST00000368315, ENST00000313695, 
ENST00000361247, ENST00000368316, 
ENST00000462460, ENST00000477754, 
ENST00000313667, 
Fusion gene scores* DoF score10 X 10 X 9=9005 X 8 X 7=280
# samples 1211
** MAII scorelog2(12/900*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/280*10)=-1.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0907 [Title/Abstract] AND ARHGEF2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-XF-A9T0-01AKIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
TCGARVLUSCTCGA-85-8580-01AKIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000368321ENST00000368315KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368321ENST00000313695KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368321ENST00000361247KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368321ENST00000368316KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368321ENST00000462460KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368321ENST00000477754KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368321ENST00000313667KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368320ENST00000368315KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368320ENST00000313695KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368320ENST00000361247KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368320ENST00000368316KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368320ENST00000462460KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368320ENST00000477754KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368320ENST00000313667KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368319ENST00000368315KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368319ENST00000313695KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368319ENST00000361247KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368319ENST00000368316KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368319ENST00000462460KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368319ENST00000477754KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5CDS-intronENST00000368319ENST00000313667KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-3CDSENST00000482337ENST00000368315KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-3CDSENST00000482337ENST00000313695KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-3CDSENST00000482337ENST00000361247KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-3CDSENST00000482337ENST00000368316KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-3CDSENST00000482337ENST00000462460KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-intronENST00000482337ENST00000477754KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
5UTR-intronENST00000482337ENST00000313667KIAA0907chr1

155893418

-ARHGEF2chr1

155936270

-
In-frameENST00000368321ENST00000368315KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368321ENST00000313695KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368321ENST00000361247KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368321ENST00000368316KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368321ENST00000462460KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-intronENST00000368321ENST00000477754KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-intronENST00000368321ENST00000313667KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
In-frameENST00000368320ENST00000368315KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368320ENST00000313695KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368320ENST00000361247KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368320ENST00000368316KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-5UTRENST00000368320ENST00000462460KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-intronENST00000368320ENST00000477754KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
5CDS-intronENST00000368320ENST00000313667KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-3CDSENST00000368319ENST00000368315KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000368319ENST00000313695KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000368319ENST00000361247KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000368319ENST00000368316KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000368319ENST00000462460KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-intronENST00000368319ENST00000477754KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-intronENST00000368319ENST00000313667KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-3CDSENST00000482337ENST00000368315KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000482337ENST00000313695KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000482337ENST00000361247KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000482337ENST00000368316KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-5UTRENST00000482337ENST00000462460KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-intronENST00000482337ENST00000477754KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-
intron-intronENST00000482337ENST00000313667KIAA0907chr1

155891166

-ARHGEF2chr1

155939091

-

Top

FusionProtFeatures for KIAA0907_ARHGEF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0907

ARHGEF2

Q92974

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Activates Rho-GTPases by promoting the exchange of GDPfor GTP. May be involved in epithelial barrier permeability, cellmotility and polarization, dendritic spine morphology, antigenpresentation, leukemic cell differentiation, cell cycleregulation, innate immune response, and cancer. Binds Rac-GTPases,but does not seem to promote nucleotide exchange activity towardRac-GTPases, which was uniquely reported in PubMed:9857026. Maystimulate instead the cortical activity of Rac. Inactive towardCDC42, TC10, or Ras-GTPases. Forms an intracellular sensing systemalong with NOD1 for the detection of microbial effectors duringcell invasion by pathogens. Required for RHOA and RIP2 dependentNF-kappaB signaling pathways activation upon S.flexneri cellinvasion. Involved not only in sensing peptidoglycan (PGN)-derivedmuropeptides through NOD1 that is independent of its GEF activity,but also in the activation of NF-kappaB by Shigella effectorproteins (IpgB2 and OspB) which requires its GEF activity and theactivation of RhoA. Involved in innate immune signalingtransduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterialpeptidoglycans; acts as a signaling intermediate between NOD2receptor and RIPK2 kinase. Contributes to the tyrosinephosphorylation of RIPK2 through Src tyrosine kinase leading toNF-kappaB activation by NOD2. Overexpression activates Rho-, butnot Rac-GTPases, and increases paracellular permeability (Bysimilarity). Involved in neuronal progenitor cell division anddifferentiation (PubMed:28453519). Involved in the migration ofprecerebellar neurons (By similarity).{ECO:0000250|UniProtKB:Q60875, ECO:0000250|UniProtKB:Q865S3,ECO:0000269|PubMed:19043560, ECO:0000269|PubMed:21887730,ECO:0000269|PubMed:28453519, ECO:0000269|PubMed:9857026}.

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
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-022587_61121986Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-022798_86721986Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-022587_611-6959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-022798_867-6959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-022587_61121987Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-022798_86721987Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-426587_611-6959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-426798_867-6959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-222587_61192986Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-222798_86792986Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-222587_61165959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-222798_86765959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-222587_61192987Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-222798_86792987Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-626587_61165959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-626798_86765959Coiled coilOntology_term=ECO:0000255
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-022235_43221986DomainDH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-022472_57121986DomainPH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-022235_432-6959DomainDH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-022472_571-6959DomainPH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-022235_43221987DomainDH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-022472_57121987DomainPH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-426235_432-6959DomainDH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-426472_571-6959DomainPH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-222235_43292986DomainDH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-222472_57192986DomainPH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-222235_43265959DomainDH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-222472_57165959DomainPH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-222235_43292987DomainDH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-222472_57192987DomainPH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-626235_43265959DomainDH
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-626472_57165959DomainPH
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-02239_8621986Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-02239_86-6959Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-02239_8621987Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-42639_86-6959Zinc fingerPhorbol-ester/DAG-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-22239_8692986Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-22239_8665959Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-22239_8692987Zinc fingerPhorbol-ester/DAG-type
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-62639_8665959Zinc fingerPhorbol-ester/DAG-type


Top

FusionGeneSequence for KIAA0907_ARHGEF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for KIAA0907_ARHGEF2


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
KIAA0907U2AF2, PRPF19, CDC5L, EXOC3, RBM39, PUF60, SHMT2, MOV10, NXF1, ZDHHC17, STARD7, NECAP1, UBE2M, EWSR1, SERPINB5, CALML5, IGHG2, IGKC, SERPINB2, TYMP, S100A7, TRIM29, CALML3, TRIM25ARHGEF2MYC, PAK1, YWHAQ, RAC1, RHOA, PLCG1, MARK2, TAF10, MAPK1, YWHAG, MARK4, YWHAH, ELAVL1, USP21, YWHAZ, NOTCH1, VCP, PEX14, MMS19, FBXO6, ANKRD28, PPP6C, PPP6R1, YWHAB, RPA3, RPA2, RPA1, CEP250, RPP25L, MOV10, NXF1, CCDC8, EGFR, WDR83, FGL1, NTRK1, COPS7A, KLC2, PRDX1, PSME3, CEP170, CNTRL, SCLT1, DCTN1, PPP2R1A, FOXO3, SNW1, CDC5L, PPP2CA, PPP2CB, PAK7, UBE2A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313667-022131_16121986DYNLT1
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000313695-022131_161-6959DYNLT1
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000361247-022131_16121987DYNLT1
TgeneARHGEF2chr1:155891166chr1:155939091ENST00000368316-426131_161-6959DYNLT1
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313667-222131_16192986DYNLT1
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000313695-222131_16165959DYNLT1
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000361247-222131_16192987DYNLT1
TgeneARHGEF2chr1:155893418chr1:155936270ENST00000368316-626131_16165959DYNLT1


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


Top

RelatedDrugs for KIAA0907_ARHGEF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for KIAA0907_ARHGEF2


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