FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ARHGEF3-INTS3 (FusionGDB2 ID:6407)

Fusion Gene Summary for ARHGEF3-INTS3

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF3-INTS3
Fusion gene ID: 6407
HgeneTgene
Gene symbol

ARHGEF3

INTS3

Gene ID

50650

65123

Gene nameRho guanine nucleotide exchange factor 3integrator complex subunit 3
SynonymsGEF3|STA3|XPLNC1orf193|C1orf60|INT3|SOSS-A|SOSSA
Cytomap

3p14.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 359.8 kDA proteinRho guanine nucleotide exchange factor (GEF) 3RhoGEF proteinexchange factor found in platelets and leukemic and neuronal tissues, XPLNintegrator complex subunit 3SOSS complex subunit Asensor of single-strand DNA complex subunit Asensor of ssDNA subunit A
Modification date2020032720200313
UniProtAcc.

Q68E01

Ensembl transtripts involved in fusion geneENST00000338458, ENST00000496106, 
ENST00000498517, ENST00000296315, 
ENST00000413728, ENST00000497267, 
ENST00000495373, 
ENST00000456435, 
ENST00000318967, ENST00000435409, 
ENST00000512605, ENST00000476843, 
Fusion gene scores* DoF score19 X 17 X 8=25847 X 5 X 2=70
# samples 237
** MAII scorelog2(23/2584*10)=-3.48990030374955
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/70*10)=0
Context

PubMed: ARHGEF3 [Title/Abstract] AND INTS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF3(56844516)-INTS3(153740219), # 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
TgeneINTS3

GO:0016180

snRNA processing

16239144


check buttonFusion gene breakpoints across ARHGEF3 (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 INTS3 (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/ABQ353113ARHGEF3chr3

56844516

-INTS3chr1

153740219

-


Top

Fusion Gene ORF analysis for ARHGEF3-INTS3

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-3CDSENST00000338458ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000338458ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000338458ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000338458ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000338458ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000496106ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000496106ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000496106ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000496106ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000496106ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000498517ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000498517ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000498517ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000498517ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000498517ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000296315ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000296315ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000296315ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000296315ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000296315ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000413728ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000413728ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000413728ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000413728ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000413728ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000497267ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000497267ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000497267ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000497267ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000497267ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000495373ENST00000456435ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000495373ENST00000318967ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000495373ENST00000435409ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3CDSENST00000495373ENST00000512605ARHGEF3chr3

56844516

-INTS3chr1

153740219

-
intron-3UTRENST00000495373ENST00000476843ARHGEF3chr3

56844516

-INTS3chr1

153740219

-

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

Top

Fusion Genomic Features for ARHGEF3-INTS3


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.

Top

Fusion Protein Features for ARHGEF3-INTS3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.INTS3

Q68E01

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). {ECO:0000269|PubMed:23904267, ECO:0000305|PubMed:16239144}.; FUNCTION: Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. The SOSS complex is required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. In the SOSS complex, it is required for the assembly of the complex and for stabilization of the complex at DNA damage sites. {ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501}.

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


Top

Fusion Gene Sequence for ARHGEF3-INTS3


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.

Top

Fusion Gene PPI Analysis for ARHGEF3-INTS3


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


Top

Related Drugs for ARHGEF3-INTS3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ARHGEF3-INTS3


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