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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:ARHGAP32-EPB41L2 (FusionGDB2 ID:6071)

Fusion Gene Summary for ARHGAP32-EPB41L2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP32-EPB41L2
Fusion gene ID: 6071
HgeneTgene
Gene symbol

ARHGAP32

EPB41L2

Gene ID

9743

2037

Gene nameRho GTPase activating protein 32erythrocyte membrane protein band 4.1 like 2
SynonymsGC-GAP|GRIT|PX-RICS|RICS|p200RhoGAP|p250GAP4.1-G|4.1G
Cytomap

11q24.3

6q23.1-q23.2

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 32GAB-associated CDC42GAB-associated Cdc42/Rac GTPase-activating proteinGTPase regulator interacting with TrkAGTPase-activating protein for Cdc42 and Rac1RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaband 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1
Modification date2020032720200313
UniProtAcc

A7KAX9

O43491

Ensembl transtripts involved in fusion geneENST00000310343, ENST00000392657, 
ENST00000524655, ENST00000527272, 
ENST00000337057, ENST00000368128, 
ENST00000392427, ENST00000445890, 
ENST00000524581, ENST00000525193, 
ENST00000525271, ENST00000527411, 
ENST00000527659, ENST00000528282, 
ENST00000529208, ENST00000530148, 
ENST00000530481, ENST00000530757, 
ENST00000531410, 
Fusion gene scores* DoF score10 X 9 X 5=45010 X 9 X 8=720
# samples 1110
** MAII scorelog2(11/450*10)=-2.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/720*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP32 [Title/Abstract] AND EPB41L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGAP32(128835494)-EPB41L2(131182325), # 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

check buttonFusion gene breakpoints across ARHGAP32 (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 EPB41L2 (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/ADA235187ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-


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Fusion Gene ORF analysis for ARHGAP32-EPB41L2

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-intronENST00000310343ENST00000337057ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000368128ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000392427ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000445890ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000524581ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000525193ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000525271ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000527411ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000527659ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000528282ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000529208ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000530148ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000530481ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000530757ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000310343ENST00000531410ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000337057ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000368128ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000392427ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000445890ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000524581ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000525193ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000525271ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000527411ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000527659ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000528282ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000529208ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000530148ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000530481ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000530757ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000392657ENST00000531410ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000337057ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000368128ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000392427ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000445890ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000524581ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000525193ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000525271ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000527411ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000527659ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000528282ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000529208ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000530148ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000530481ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000530757ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000524655ENST00000531410ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000337057ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000368128ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000392427ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000445890ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000524581ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000525193ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000525271ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000527411ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000527659ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000528282ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000529208ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000530148ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000530481ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000530757ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-
intron-intronENST00000527272ENST00000531410ARHGAP32chr11

128835494

-EPB41L2chr6

131182325

-

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 ARHGAP32-EPB41L2


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 ARHGAP32-EPB41L2


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/:128835494/:131182325)
- 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
ARHGAP32

A7KAX9

EPB41L2

O43491

FUNCTION: GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:12446789, ECO:0000269|PubMed:12454018, ECO:0000269|PubMed:12531901, ECO:0000269|PubMed:12788081, ECO:0000269|PubMed:12819203, ECO:0000269|PubMed:12857875, ECO:0000269|PubMed:17663722}.FUNCTION: Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). {ECO:0000269|PubMed:23870127}.

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 ARHGAP32-EPB41L2


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 ARHGAP32-EPB41L2


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 ARHGAP32-EPB41L2


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 ARHGAP32-EPB41L2


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