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:RAC1-AIMP2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RAC1-AIMP2
FusionPDB ID: 71612
FusionGDB2.0 ID: 71612
HgeneTgene
Gene symbol

RAC1

AIMP2

Gene ID

6035

7965

Gene nameribonuclease A family member 1, pancreaticaminoacyl tRNA synthetase complex interacting multifunctional protein 2
SynonymsRAC1|RIB1|RNS1HLD17|JTV-1|JTV1|P38
Cytomap

14q11.2

7p22.1

Type of geneprotein-codingprotein-coding
Descriptionribonuclease pancreaticHP-RNaseRIB-1RNase 1RNase ARNase upI-1ribonuclease 1ribonuclease A C1ribonuclease, RNase A family, 1 (pancreatic)aminoacyl tRNA synthase complex-interacting multifunctional protein 2ARS-interacting multi-functional protein 2multisynthase complex auxiliary component p38multisynthetase complex auxiliary component p38protein JTV-1
Modification date2020031320200327
UniProtAcc.

Q13155

Ensembl transtripts involved in fusion geneENST idsENST00000488373, ENST00000348035, 
ENST00000356142, 
ENST00000223029, 
ENST00000400479, ENST00000395236, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 12 X 6=13687 X 6 X 5=210
# samples 197
** MAII scorelog2(19/1368*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RAC1 [Title/Abstract] AND AIMP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RAC1(6431672)-AIMP2(6054776), # samples:2
Anticipated loss of major functional domain due to fusion event.RAC1-AIMP2 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.
RAC1-AIMP2 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.
* 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
HgeneRAC1

GO:0051607

defense response to virus

9826755

HgeneRAC1

GO:0090501

RNA phosphodiester bond hydrolysis

9826755


check buttonFusion gene breakpoints across RAC1 (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 AIMP2 (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
ChimerDB4ESCATCGA-L5-A88VRAC1chr7

6431672

+AIMP2chr7

6054776

+


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)
ENST00000348035RAC1chr76431672+ENST00000223029AIMP2chr76054776+1409438121265417
ENST00000356142RAC1chr76431672+ENST00000223029AIMP2chr76054776+1393422141249411

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
ENST00000348035ENST00000223029RAC1chr76431672+AIMP2chr76054776+0.0013471240.9986528
ENST00000356142ENST00000223029RAC1chr76431672+AIMP2chr76054776+0.0013407140.99865925

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

>71612_71612_1_RAC1-AIMP2_RAC1_chr7_6431672_ENST00000348035_AIMP2_chr7_6054776_ENST00000223029_length(amino acids)=417AA_BP=142
MQFSSALGGGRCRASASSPRRARRRGQRPRHPAPRRPQAARPSAAPRARRFLSQRPAAAAAAQRAALMQAIKCVVVGDGAVGKTCLLISY
TTNAFPGEYIPTVFDNYSANVMVDGKPVNLGLWDTAGQEDYDRLRPLSYPQTEESNLSLQALESRQDDILKRLYELKAAVDGLSKMIQTP
DADLDVTNIIQADEPTTLTTNALDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQN
KKQPRQDYQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSAL

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

>71612_71612_2_RAC1-AIMP2_RAC1_chr7_6431672_ENST00000356142_AIMP2_chr7_6054776_ENST00000223029_length(amino acids)=411AA_BP=136
MGGGRCRASASSPRRARRRGQRPRHPAPRRPQAARPSAAPRARRFLSQRPAAAAAAQRAALMQAIKCVVVGDGAVGKTCLLISYTTNAFP
GEYIPTVFDNYSANVMVDGKPVNLGLWDTAGQEDYDRLRPLSYPQTEESNLSLQALESRQDDILKRLYELKAAVDGLSKMIQTPDADLDV
TNIIQADEPTTLTTNALDLNSVLGKDYGALKDIVINANPASPPLSLLVLHRLLCEHFRVLSTVHTHSSVKSVPENLLKCFGEQNKKQPRQ
DYQLGFTLIWKNVPKTQMKFSIQTMCPIEGEGNIARFLFSLFGQKHNAVNATLIDSWVDIAIFQLKEGSSKEKAAVFRSMNSALGKSPWL

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

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/chr7:6431672/chr7:6054776)
- 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
.AIMP2

Q13155

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: Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. {ECO:0000269|PubMed:16135753, ECO:0000269|PubMed:19131329}.

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
HgeneRAC1chr7:6431672chr7:6054776ENST00000348035+3632_4075.0193.0MotifEffector region
HgeneRAC1chr7:6431672chr7:6054776ENST00000356142+3732_4075.0212.0MotifEffector region
HgeneRAC1chr7:6431672chr7:6054776ENST00000348035+3613_1875.0193.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000348035+3630_3575.0193.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000356142+3713_1875.0212.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000356142+3730_3575.0212.0Nucleotide bindingGTP
TgeneAIMP2chr7:6431672chr7:6054776ENST0000022302904220_31745.0321.0DomainNote=GST C-terminal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAC1chr7:6431672chr7:6054776ENST00000348035+36116_11875.0193.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000348035+36159_16075.0193.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000356142+37116_11875.0212.0Nucleotide bindingGTP
HgeneRAC1chr7:6431672chr7:6054776ENST00000356142+37159_16075.0212.0Nucleotide bindingGTP


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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RAC1
AIMP2


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


Top

Related Drugs to RAC1-AIMP2


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

Top

Related Diseases to RAC1-AIMP2


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