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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:ABI2-TMEM63A (FusionGDB2 ID:HG10152TG9725)

Fusion Gene Summary for ABI2-TMEM63A

check button Fusion gene summary
Fusion gene informationFusion gene name: ABI2-TMEM63A
Fusion gene ID: hg10152tg9725
HgeneTgene
Gene symbol

ABI2

TMEM63A

Gene ID

10152

9725

Gene nameabl interactor 2transmembrane protein 63A
SynonymsABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIBHLD19|KIAA0792
Cytomap('ABI2')('TMEM63A')

2q33.2

1q42.12

Type of geneprotein-codingprotein-coding
Descriptionabl interactor 2abelson interactor 2abl binding protein 3abl-interacting protein 1 (SH3-containing protein)abl-interactor protein 2barg protein tyrosine kinase-binding proteinarg-binding protein 1CSC1-like protein 1
Modification date2020032720200313
UniProtAcc

Q9NYB9

.
Ensembl transtripts involved in fusion geneENST00000261016, ENST00000261017, 
ENST00000261018, ENST00000295851, 
ENST00000422511, ENST00000424558, 
ENST00000430418, ENST00000430574, 
Fusion gene scores* DoF score14 X 7 X 8=7845 X 5 X 3=75
# samples 175
** MAII scorelog2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABI2 [Title/Abstract] AND TMEM63A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABI2(204216279)-TMEM63A(226033263), # 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
HgeneABI2

GO:0016601

Rac protein signal transduction

21107423

HgeneABI2

GO:0018108

peptidyl-tyrosine phosphorylation

17101133

HgeneABI2

GO:2000601

positive regulation of Arp2/3 complex-mediated actin nucleation

21107423



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/ABI493837ABI2chr2

204216279

+TMEM63Achr1

226033263

-


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Fusion Gene ORF analysis for ABI2-TMEM63A

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-3UTRENST00000261016ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000261017ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000261018ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000295851ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000422511ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000424558ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000430418ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-3UTRENST00000430574ENST00000366835ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261016ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261016ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261017ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261017ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261018ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000261018ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000295851ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000295851ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000422511ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000422511ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000424558ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000424558ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000430418ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000430418ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000430574ENST00000474478ABI2chr2

204216279

+TMEM63Achr1

226033263

-
intron-intronENST00000430574ENST00000537914ABI2chr2

204216279

+TMEM63Achr1

226033263

-

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 ABI2-TMEM63A


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)


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Fusion Protein Features for ABI2-TMEM63A


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/:204216279/:226033263)
- 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
ABI2

Q9NYB9

.
FUNCTION: Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). {ECO:0000250|UniProtKB:P62484, ECO:0000269|PubMed:10498863, ECO:0000269|PubMed:15572692, ECO:0000269|PubMed:21107423, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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.
- 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 ABI2-TMEM63A


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 ABI2-TMEM63A


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 ABI2-TMEM63A


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 ABI2-TMEM63A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human