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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ABI2-CARF

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABI2-CARF
FusionPDB ID: 455
FusionGDB2.0 ID: 455
HgeneTgene
Gene symbol

ABI2

CARF

Gene ID

10152

79800

Gene nameabl interactor 2calcium responsive transcription factor
SynonymsABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIBALS2CR8|NYD-SP24
Cytomap

2q33.2

2q33.2

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 1calcium-responsive transcription factoramyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 proteincalcium-response factortestis development protein NYD-SP24
Modification date2020032720200313
UniProtAcc

Q9NYB9

Q8N187

Ensembl transtripts involved in fusion geneENST idsENST00000430574, ENST00000261016, 
ENST00000261017, ENST00000261018, 
ENST00000295851, ENST00000422511, 
ENST00000424558, ENST00000430418, 
ENST00000402905, ENST00000320443, 
ENST00000414439, ENST00000428585, 
ENST00000434998, ENST00000438828, 
ENST00000444724, ENST00000456821, 
ENST00000471271, ENST00000545253, 
ENST00000545262, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 7 X 8=7843 X 4 X 3=36
# samples 174
** MAII scorelog2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABI2(204267457)-CARF(203846278), # samples:1
Anticipated loss of major functional domain due to fusion event.ABI2-CARF 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.
ABI2-CARF 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.
ABI2-CARF 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.
ABI2-CARF 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
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

TgeneCARF

GO:0035865

cellular response to potassium ion

22174809

TgeneCARF

GO:0061400

positive regulation of transcription from RNA polymerase II promoter in response to calcium ion

11832226|22174809

TgeneCARF

GO:0071277

cellular response to calcium ion

11832226|22174809


check buttonFusion gene breakpoints across ABI2 (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 CARF (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4BRCATCGA-AN-A0FJ-01AABI2chr2

204267457

+CARFchr2

203846278

+


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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)
ENST00000295851ABI2chr2204267457+ENST00000402905CARFchr2203846278+554714882632107614
ENST00000261017ABI2chr2204267457+ENST00000402905CARFchr2203846278+528512262021845547
ENST00000430418ABI2chr2204267457+ENST00000402905CARFchr2203846278+52091150901769559
ENST00000424558ABI2chr2204267457+ENST00000402905CARFchr2203846278+53531294871913608
ENST00000261016ABI2chr2204267457+ENST00000402905CARFchr2203846278+524611873311806491
ENST00000422511ABI2chr2204267457+ENST00000402905CARFchr2203846278+51831124311743570
ENST00000261018ABI2chr2204267457+ENST00000402905CARFchr2203846278+4656597171216399

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
ENST00000295851ENST00000402905ABI2chr2204267457+CARFchr2203846278+0.0001718670.9998281
ENST00000261017ENST00000402905ABI2chr2204267457+CARFchr2203846278+5.64E-050.9999436
ENST00000430418ENST00000402905ABI2chr2204267457+CARFchr2203846278+6.65E-050.9999335
ENST00000424558ENST00000402905ABI2chr2204267457+CARFchr2203846278+8.57E-050.9999143
ENST00000261016ENST00000402905ABI2chr2204267457+CARFchr2203846278+8.29E-050.99991715
ENST00000422511ENST00000402905ABI2chr2204267457+CARFchr2203846278+0.0001436570.99985635
ENST00000261018ENST00000402905ABI2chr2204267457+CARFchr2203846278+0.000263020.99973696

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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

>455_455_1_ABI2-CARF_ABI2_chr2_204267457_ENST00000261016_CARF_chr2_203846278_ENST00000402905_length(amino acids)=491AA_BP=283
MSCRCWISRHPSYEGWNLQSIIFHKQIRGVDLESTFVTKFGNNCSLRLNETVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVR
YIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRT
ASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTS
LQNQMNGGPFYSQNPGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGL
LDTIGSAVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHS

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

>455_455_2_ABI2-CARF_ABI2_chr2_204267457_ENST00000261017_CARF_chr2_203846278_ENST00000402905_length(amino acids)=547AA_BP=339
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSG
SVGVPIAVPTPSPPSVFPGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPGNSPGESITTKVETNQTRG
SLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNNNSLLLGQSHSLQRDTCLTQNNST
ASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHSALIEENPESTISVSQVKQEPKEPALSMEAKKTVD

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

>455_455_3_ABI2-CARF_ABI2_chr2_204267457_ENST00000261018_CARF_chr2_203846278_ENST00000402905_length(amino acids)=399AA_BP=191
MLRFKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPL
PATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQ
NQMNGGPFYSQNPGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLD
TIGSAVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHSAL

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

>455_455_4_ABI2-CARF_ABI2_chr2_204267457_ENST00000295851_CARF_chr2_203846278_ENST00000402905_length(amino acids)=614AA_BP=406
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMG
GLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSR
ENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQ
FYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQ
LQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEV

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

>455_455_5_ABI2-CARF_ABI2_chr2_204267457_ENST00000422511_CARF_chr2_203846278_ENST00000402905_length(amino acids)=570AA_BP=362
MAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQASQLRRMESSI
NHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMGGLPRTTPPTQK
PPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVP
IAVPTPSPPSVFPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFY
SQNPGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNN
NSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHSALIEENPESTI

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

>455_455_6_ABI2-CARF_ABI2_chr2_204267457_ENST00000424558_CARF_chr2_203846278_ENST00000402905_length(amino acids)=608AA_BP=400
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSG
SVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSSTAPDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNR
PASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQL
QPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDT

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

>455_455_7_ABI2-CARF_ABI2_chr2_204267457_ENST00000430418_CARF_chr2_203846278_ENST00000402905_length(amino acids)=559AA_BP=351
MYEEEEEEDVKMAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQ
ASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKVSTQNMKMGGLPRTT
PPTQKPPSPPMSGKGTLGSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSST
APDAAAGGAQTLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPGNSPGES
ITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNNNSLLLGQSHSL
QRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHSALIEENPESTISVSQVKQEPKE

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

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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/chr2:204267457/chr2:203846278)
- 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

CARF

Q8N187

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: Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence. {ECO:0000269|PubMed:11832226, ECO:0000269|PubMed:22174809}.

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
HgeneABI2chr2:204267457chr2:203846278ENST00000261016+81045_107285.3333333333333402.0Domaint-SNARE coiled-coil homology
HgeneABI2chr2:204267457chr2:203846278ENST00000261017+71045_107330.3333333333333476.0Domaint-SNARE coiled-coil homology
HgeneABI2chr2:204267457chr2:203846278ENST00000424558+81045_107391.3333333333333508.0Domaint-SNARE coiled-coil homology

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABI2chr2:204267457chr2:203846278ENST00000261016+810172_423285.3333333333333402.0Compositional biasNote=Pro-rich
HgeneABI2chr2:204267457chr2:203846278ENST00000261017+710172_423330.3333333333333476.0Compositional biasNote=Pro-rich
HgeneABI2chr2:204267457chr2:203846278ENST00000424558+810172_423391.3333333333333508.0Compositional biasNote=Pro-rich
HgeneABI2chr2:204267457chr2:203846278ENST00000261016+810451_510285.3333333333333402.0DomainSH3
HgeneABI2chr2:204267457chr2:203846278ENST00000261017+710451_510330.3333333333333476.0DomainSH3
HgeneABI2chr2:204267457chr2:203846278ENST00000424558+810451_510391.3333333333333508.0DomainSH3


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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
ABI2all structure
CARF


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


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Related Drugs to ABI2-CARF


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

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Related Diseases to ABI2-CARF


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