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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-MKI67 (FusionGDB2 ID:HG10152TG4288)

Fusion Gene Summary for ABI2-MKI67

check button Fusion gene summary
Fusion gene informationFusion gene name: ABI2-MKI67
Fusion gene ID: hg10152tg4288
HgeneTgene
Gene symbol

ABI2

MKI67

Gene ID

10152

4288

Gene nameabl interactor 2marker of proliferation Ki-67
SynonymsABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIBKIA|MIB-|MIB-1|PPP1R105
Cytomap('ABI2')('MKI67')

2q33.2

10q26.2

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 1proliferation marker protein Ki-67antigen Ki67antigen identified by monoclonal antibody Ki-67proliferation-related Ki-67 antigenprotein phosphatase 1, regulatory subunit 105
Modification date2020032720200329
UniProtAcc

Q9NYB9

P46013

Ensembl transtripts involved in fusion geneENST00000261016, ENST00000261017, 
ENST00000261018, ENST00000295851, 
ENST00000422511, ENST00000424558, 
ENST00000430418, ENST00000430574, 
Fusion gene scores* DoF score14 X 7 X 8=7847 X 4 X 3=84
# samples 178
** MAII scorelog2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/84*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABI2 [Title/Abstract] AND MKI67 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABI2(204281804)-MKI67(129917583), # samples:1
Anticipated loss of major functional domain due to fusion event.ABI2-MKI67 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ABI2-MKI67 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ABI2-MKI67 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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

TgeneMKI67

GO:0007088

regulation of mitotic nuclear division

27362226

TgeneMKI67

GO:0051983

regulation of chromosome segregation

27362226



check button Fusion gene information
* 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-LN-A49KABI2chr2

204281804

+MKI67chr10

129917583

-


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Fusion Gene ORF analysis for ABI2-MKI67

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
5CDS-intronENST00000261016ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000261017ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000261018ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000295851ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000422511ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000424558ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
5CDS-intronENST00000430418ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261016ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261016ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261017ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261017ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261018ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000261018ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000295851ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000295851ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000422511ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000422511ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000424558ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000424558ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000430418ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
Frame-shiftENST00000430418ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
intron-3CDSENST00000430574ENST00000368653ABI2chr2

204281804

+MKI67chr10

129917583

-
intron-3CDSENST00000430574ENST00000368654ABI2chr2

204281804

+MKI67chr10

129917583

-
intron-intronENST00000430574ENST00000484853ABI2chr2

204281804

+MKI67chr10

129917583

-

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-MKI67


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-MKI67


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/:204281804/:129917583)
- 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

MKI67

P46013

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: Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface (PubMed:27362226). Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization (PubMed:24867636). It is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in maintaining mitotic chromosomes dispersed (Probable). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226}.

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-MKI67


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-MKI67


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-MKI67


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-MKI67


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006142Malignant neoplasm of breast3CTD_human
TgeneC0678222Breast Carcinoma3CTD_human
TgeneC1257931Mammary Neoplasms, Human3CTD_human
TgeneC1458155Mammary Neoplasms3CTD_human
TgeneC4704874Mammary Carcinoma, Human3CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0019189Hepatitis, Chronic1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0030246Pustulosis of Palms and Soles1CTD_human
TgeneC0033860Psoriasis1CTD_human
TgeneC0149519Chronic Persistent Hepatitis1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0206637Mesenchymal Chondrosarcoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0520463Chronic active hepatitis1CTD_human
TgeneC0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1876165Copper-Overload Cirrhosis1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human