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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ABI2 |
 Gene summary |
| Gene information | Gene symbol | ABI2 | Gene ID | 10152 |
| Gene name | abl interactor 2 | |
| Synonyms | ABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIB | |
| Cytomap | 2q33.2 | |
| Type of gene | protein-coding | |
| Description | abl interactor 2abelson interactor 2abl binding protein 3abl-interacting protein 1 (SH3-containing protein)abl-interactor protein 2barg protein tyrosine kinase-binding proteinarg-binding protein 1 | |
| Modification date | 20200327 | |
| UniProtAcc | A0A0C4DG21, B7Z836, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ABI2 | GO:0016601 | Rac protein signal transduction | 21107423 |
| ABI2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 17101133 |
| ABI2 | GO:2000601 | positive regulation of Arp2/3 complex-mediated actin nucleation | 21107423 |
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Gene structures and expression levels for ABI2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000138443
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000422719.5 | ABI2-212:lncRNA:ABI2 | 1.077898e+01 | 1.109308e+00 | 8.983392e-04 | 1.348064e-02 |
| CB | UP | ENST00000425253.1 | ABI2-214:nonsense_mediated_decay:ABI2 | 3.645600e+00 | 9.125137e-01 | 2.960646e-07 | 5.333158e-06 |
| CB | UP | ENST00000430418.5 | ABI2-215:protein_coding:ABI2 | 1.180908e+01 | 8.472297e-01 | 4.496422e-04 | 2.633129e-03 |
| CB | UP | ENST00000422511.6 | ABI2-211:protein_coding:ABI2 | 7.325821e+00 | 8.292653e-01 | 6.981638e-04 | 3.819240e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ABI2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101597 | chr2 | 203394748:203394846:203395659:203395780:203402576:203402677 | 203395659:203395780 |
| exon_skip_104592 | chr2 | 203395659:203395780:203396785:203396967:203402576:203402677 | 203396785:203396967 |
| exon_skip_10506 | chr2 | 203395656:203395780:203396884:203396967:203402576:203402677 | 203396884:203396967 |
| exon_skip_114407 | chr2 | 203380358:203380384:203391046:203391143:203394700:203394846 | 203391046:203391143 |
| exon_skip_115801 | chr2 | 203328484:203328631:203366877:203366996:203402576:203402734 | 203366877:203366996 |
| exon_skip_139360 | chr2 | 203328484:203328631:203351555:203351678:203366877:203366957 | 203351555:203351678 |
| exon_skip_140302 | chr2 | 203394748:203394846:203395656:203395780:203402576:203402677 | 203395656:203395780 |
| exon_skip_151574 | chr2 | 203366884:203367044:203374820:203374852:203376057:203376132 | 203374820:203374852 |
| exon_skip_160187 | chr2 | 203374820:203374852:203376057:203376132:203380208:203380273 | 203376057:203376132 |
| exon_skip_160797 | chr2 | 203395698:203395780:203396785:203396967:203402576:203402677 | 203396785:203396967 |
| exon_skip_180245 | chr2 | 203391046:203391143:203394700:203394846:203395659:203395780 | 203394700:203394846 |
| exon_skip_181044 | chr2 | 203366923:203367044:203374820:203374852:203376057:203376132 | 203374820:203374852 |
| exon_skip_186233 | chr2 | 203391046:203391143:203394700:203394846:203395656:203395723 | 203394700:203394846 |
| exon_skip_187082 | chr2 | 203328395:203328631:203342197:203342230:203366877:203367044 | 203342197:203342230 |
| exon_skip_194354 | chr2 | 203366923:203367044:203375932:203376132:203380208:203380273 | 203375932:203376132 |
| exon_skip_21650 | chr2 | 203366923:203367044:203376057:203376132:203380208:203380273 | 203376057:203376132 |
| exon_skip_256180 | chr2 | 203366923:203367044:203380208:203380384:203391046:203391143 | 203380208:203380384 |
| exon_skip_256597 | chr2 | 203366881:203367044:203375932:203376132:203380208:203380273 | 203375932:203376132 |
| exon_skip_268829 | chr2 | 203394797:203394846:203395656:203395780:203402576:203402677 | 203395656:203395780 |
| exon_skip_274629 | chr2 | 203394748:203394846:203395656:203395780:203402576:203402734 | 203395656:203395780 |
| exon_skip_279064 | chr2 | 203328484:203328631:203366877:203367044:203380208:203380273 | 203366877:203367044 |
| exon_skip_280999 | chr2 | 203391046:203391143:203395656:203395780:203402576:203402677 | 203395656:203395780 |
| exon_skip_282327 | chr2 | 203328484:203328631:203355154:203355324:203366877:203366957 | 203355154:203355324 |
| exon_skip_28615 | chr2 | 203382189:203382206:203391046:203391143:203395656:203395780 | 203391046:203391143 |
| exon_skip_39969 | chr2 | 203402706:203402734:203403317:203403361:203416908:203416972 | 203403317:203403361 |
| exon_skip_6018 | chr2 | 203380358:203380384:203382189:203382206:203391046:203391143 | 203382189:203382206 |
| exon_skip_61205 | chr2 | 203391046:203391143:203394700:203394846:203395656:203395780 | 203394700:203394846 |
| exon_skip_69589 | chr2 | 203394748:203394846:203395659:203395780:203402576:203402734 | 203395659:203395780 |
| exon_skip_70777 | chr2 | 203402706:203402734:203411285:203411371:203416908:203416972 | 203411285:203411371 |
| exon_skip_80562 | chr2 | 203394797:203394846:203395659:203395780:203402576:203402677 | 203395659:203395780 |
| exon_skip_99233 | chr2 | 203395659:203395780:203396884:203396967:203402576:203402677 | 203396884:203396967 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_6018 | MSBB_PG | 4.752448e-01 | 6.741818e-01 | -1.989371e-01 | 8.313138e-07 |
| exon_skip_104592 | MSBB_PG | 3.905797e-01 | 5.716364e-01 | -1.810567e-01 | 1.143487e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for ABI2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for ABI2 |
p-ENSG00000138443_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in ABI2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ABI2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ABI2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_21650 | 3.815738e-01 | 4.511508e-02 | chr2 | + | 203366923 | 203367044 | 203376057 | 203376132 | 203380208 | 203380273 |
| CDR | MSBB | IFG | exon_skip_21650 | 4.649454e-01 | 1.266968e-02 | chr2 | + | 203366923 | 203367044 | 203376057 | 203376132 | 203380208 | 203380273 |
| CDR | MSBB | IFG | exon_skip_104592 | -4.292888e-01 | 2.262661e-02 | chr2 | + | 203395659 | 203395780 | 203396785 | 203396967 | 203402576 | 203402677 |
| CDR | MSBB | IFG | exon_skip_282327 | 4.156435e-01 | 2.782703e-02 | chr2 | + | 203328484 | 203328631 | 203355154 | 203355324 | 203366877 | 203366957 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABI2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ABI2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP2 | exon_skip_180245 | -4.425557e-01 | 1.690436e-07 |
| CB | RC3H1 | exon_skip_180245 | -4.358104e-01 | 2.723017e-07 |
| CB | RALYL | exon_skip_180245 | -4.130397e-01 | 1.264138e-06 |
| CB | SRSF1 | exon_skip_180245 | -4.138134e-01 | 1.202082e-06 |
| CB | NOVA1 | exon_skip_180245 | -4.497141e-01 | 1.007671e-07 |
| CB | ELAVL1 | exon_skip_104592 | 4.045396e-01 | 1.351532e-07 |
| CB | HNRNPK | exon_skip_104592 | 4.115790e-01 | 7.768442e-08 |
| CB | PCBP2 | exon_skip_104592 | 4.650041e-01 | 7.490901e-10 |
| CB | RALYL | exon_skip_104592 | 5.778208e-01 | 1.882858e-15 |
| CB | HNRNPH2 | exon_skip_104592 | 4.047476e-01 | 1.329840e-07 |
| CB | RBM6 | exon_skip_70777 | -4.272316e-01 | 1.951299e-08 |
| CB | TRA2A | exon_skip_70777 | -4.871198e-01 | 7.459182e-11 |
| FL | SRSF2 | exon_skip_6018 | 6.052294e-01 | 5.680068e-21 |
| FL | MSI1 | exon_skip_6018 | -6.246396e-01 | 1.328576e-22 |
| FL | MBNL1 | exon_skip_6018 | 4.828558e-01 | 7.648569e-13 |
| FL | ZCRB1 | exon_skip_6018 | 4.097019e-01 | 2.476932e-09 |
| FL | SRSF2 | exon_skip_104592 | 4.789108e-01 | 2.760202e-12 |
| FL | ILF2 | exon_skip_104592 | 5.508690e-01 | 1.799965e-16 |
| FL | HNRNPK | exon_skip_104592 | 4.546438e-01 | 4.418875e-11 |
| FL | RALYL | exon_skip_104592 | 5.111642e-01 | 4.853987e-14 |
| FL | HNRNPH2 | exon_skip_104592 | 5.850778e-01 | 7.698545e-19 |
| FL | RALYL | exon_skip_70777 | -4.132204e-01 | 1.928818e-09 |
| HCC | MSI1 | exon_skip_6018 | -7.370427e-01 | 7.515565e-48 |
| HCC | SFPQ | exon_skip_61205 | 4.618471e-01 | 7.885176e-16 |
| HCC | RBM6 | exon_skip_61205 | 4.329451e-01 | 6.718673e-14 |
| HCC | RBM5 | exon_skip_61205 | 4.430636e-01 | 1.486429e-14 |
| HCC | HNRNPF | exon_skip_61205 | 4.575049e-01 | 1.579929e-15 |
| HCC | SFPQ | exon_skip_180245 | 4.177928e-01 | 2.803153e-12 |
| HCC | RBM5 | exon_skip_180245 | 4.174723e-01 | 2.923629e-12 |
| HCC | HNRNPF | exon_skip_180245 | 4.023689e-01 | 2.020422e-11 |
| HCC | ZNF638 | exon_skip_104592 | -5.412335e-01 | 4.224919e-22 |
| HCC | RBM6 | exon_skip_104592 | -6.914942e-01 | 5.145225e-40 |
| HCC | SAMD4A | exon_skip_104592 | -6.713285e-01 | 5.410318e-37 |
| HCC | IGF2BP2 | exon_skip_104592 | -4.638724e-01 | 6.426237e-16 |
| HCC | PCBP1 | exon_skip_104592 | -4.769195e-01 | 7.448514e-17 |
| HCC | PCBP4 | exon_skip_104592 | -5.303907e-01 | 3.890781e-21 |
| HCC | PCBP2 | exon_skip_104592 | -4.428065e-01 | 1.726768e-14 |
| HCC | FUBP1 | exon_skip_104592 | -5.271073e-01 | 7.503154e-21 |
| HCC | SRSF4 | exon_skip_104592 | -5.626762e-01 | 4.101537e-24 |
| HCC | ZNF638 | exon_skip_99233 | -5.388763e-01 | 6.892995e-22 |
| HCC | RBM6 | exon_skip_99233 | -6.460387e-01 | 1.591586e-33 |
| HCC | IGF2BP2 | exon_skip_99233 | -4.881047e-01 | 1.089815e-17 |
| HCC | PCBP4 | exon_skip_99233 | -4.900009e-01 | 7.812594e-18 |
| HCC | PCBP2 | exon_skip_99233 | -4.367330e-01 | 4.278698e-14 |
| HCC | FUBP1 | exon_skip_99233 | -5.414008e-01 | 4.080046e-22 |
| HCC | EWSR1 | exon_skip_99233 | -4.271199e-01 | 1.734569e-13 |
| HCC | SRSF4 | exon_skip_99233 | -5.583267e-01 | 1.079098e-23 |
| IFG | RBM46 | exon_skip_61205 | 4.404719e-01 | 1.898271e-02 |
| IFG | CNOT4 | exon_skip_180245 | -4.444209e-01 | 2.957099e-02 |
| IFG | HNRNPDL | exon_skip_180245 | -4.300664e-01 | 3.593916e-02 |
| IFG | RBM45 | exon_skip_180245 | -5.450385e-01 | 5.882913e-03 |
| IFG | RALYL | exon_skip_180245 | -4.122014e-01 | 4.533110e-02 |
| IFG | EWSR1 | exon_skip_180245 | -4.479313e-01 | 2.815998e-02 |
| IFG | SRSF9 | exon_skip_180245 | -4.272020e-01 | 3.733105e-02 |
| IFG | HNRNPH2 | exon_skip_180245 | -4.187374e-01 | 4.169483e-02 |
| IFG | SAMD4A | exon_skip_104592 | -4.758775e-01 | 1.047772e-02 |
| IFG | IGF2BP2 | exon_skip_104592 | -4.085230e-01 | 3.090292e-02 |
| IFG | RALYL | exon_skip_104592 | 5.272682e-01 | 3.937225e-03 |
| IFG | HNRNPH2 | exon_skip_104592 | 5.749526e-01 | 1.372373e-03 |
| PCC | MSI1 | exon_skip_6018 | -5.431131e-01 | 9.670162e-18 |
| PCC | ELAVL4 | exon_skip_61205 | -5.130387e-01 | 1.455844e-15 |
| PCC | PCBP4 | exon_skip_61205 | 4.010583e-01 | 1.476889e-09 |
| PCC | HNRNPF | exon_skip_61205 | 4.346819e-01 | 3.893283e-11 |
| PCC | RBM6 | exon_skip_104592 | -4.638119e-01 | 1.049665e-12 |
| PCC | SAMD4A | exon_skip_104592 | -5.759370e-01 | 3.959807e-20 |
| PCC | PCBP4 | exon_skip_104592 | -5.431217e-01 | 1.152715e-17 |
| PCC | RALYL | exon_skip_104592 | 4.349019e-01 | 3.410966e-11 |
| PCC | PCBP4 | exon_skip_99233 | -4.611328e-01 | 1.660050e-12 |
| PG | SRSF2 | exon_skip_6018 | 4.320463e-01 | 2.075400e-10 |
| PG | MSI1 | exon_skip_6018 | -5.723610e-01 | 1.261510e-18 |
| PG | MBNL1 | exon_skip_6018 | 4.180894e-01 | 8.852186e-10 |
| PG | ELAVL4 | exon_skip_61205 | -5.410265e-01 | 1.560413e-15 |
| PG | RALYL | exon_skip_61205 | -5.013144e-01 | 3.144794e-13 |
| PG | SAMD4A | exon_skip_104592 | -4.346250e-01 | 2.692920e-10 |
| PG | IGF2BP2 | exon_skip_104592 | -4.634726e-01 | 1.140821e-11 |
| PG | PCBP1 | exon_skip_104592 | 5.672655e-01 | 7.901686e-18 |
| PG | ILF2 | exon_skip_104592 | 4.360219e-01 | 2.326272e-10 |
| PG | HNRNPK | exon_skip_104592 | 4.139602e-01 | 2.174748e-09 |
| PG | RALYL | exon_skip_104592 | 5.831068e-01 | 5.707348e-19 |
| PG | HNRNPH2 | exon_skip_104592 | 5.555730e-01 | 5.031358e-17 |
| STG | MSI1 | exon_skip_6018 | -5.361730e-01 | 7.292398e-08 |
| STG | ELAVL4 | exon_skip_61205 | -4.804681e-01 | 1.646125e-06 |
| STG | HNRNPH2 | exon_skip_61205 | -4.130013e-01 | 5.222227e-05 |
| STG | SRSF2 | exon_skip_104592 | 4.367328e-01 | 3.663213e-05 |
| STG | ILF2 | exon_skip_104592 | 5.512746e-01 | 6.634798e-08 |
| STG | HNRNPK | exon_skip_104592 | 4.914870e-01 | 2.379756e-06 |
| STG | RALYL | exon_skip_104592 | 5.838569e-01 | 6.890927e-09 |
| STG | HNRNPH2 | exon_skip_104592 | 6.439515e-01 | 5.128955e-11 |
| STG | ESRP2 | exon_skip_104592 | -4.803725e-01 | 4.308637e-06 |
| TC | SRSF2 | exon_skip_6018 | 4.927741e-01 | 3.611036e-11 |
| TC | MSI1 | exon_skip_6018 | -4.215573e-01 | 2.833033e-08 |
| TC | MBNL1 | exon_skip_6018 | 4.265433e-01 | 1.864518e-08 |
| TC | SRSF2 | exon_skip_186233 | -4.129991e-01 | 5.718918e-08 |
| TC | ELAVL4 | exon_skip_186233 | -6.039422e-01 | 2.812941e-17 |
| TC | ILF2 | exon_skip_186233 | -4.442471e-01 | 3.992246e-09 |
| TC | RBM24 | exon_skip_186233 | -5.118726e-01 | 4.583989e-12 |
| TC | ENOX1 | exon_skip_186233 | -4.161617e-01 | 4.421513e-08 |
| TC | HNRNPDL | exon_skip_186233 | -4.056372e-01 | 1.030407e-07 |
| TC | HNRNPD | exon_skip_186233 | -4.565748e-01 | 1.294143e-09 |
| TC | NUP42 | exon_skip_186233 | -4.709699e-01 | 3.277352e-10 |
| TC | RALYL | exon_skip_186233 | -6.286626e-01 | 5.569688e-19 |
| TC | SRSF5 | exon_skip_186233 | -4.102987e-01 | 7.109199e-08 |
| TC | HNRNPH2 | exon_skip_186233 | -5.261373e-01 | 9.004128e-13 |
| TC | ESRP1 | exon_skip_186233 | -4.494267e-01 | 2.500506e-09 |
| TC | NOVA1 | exon_skip_186233 | -5.461641e-01 | 8.028418e-14 |
| TC | ELAVL4 | exon_skip_180245 | -4.644312e-01 | 1.580460e-08 |
| TC | RALYL | exon_skip_180245 | -4.775602e-01 | 5.392833e-09 |
| TC | HNRNPH2 | exon_skip_180245 | -4.347879e-01 | 1.525980e-07 |
| TC | ESRP1 | exon_skip_180245 | -4.312923e-01 | 1.966159e-07 |
| TC | NOVA1 | exon_skip_180245 | -4.027390e-01 | 1.405162e-06 |
| TC | SRSF2 | exon_skip_160797 | 5.082628e-01 | 6.838455e-12 |
| TC | ILF2 | exon_skip_160797 | 5.159000e-01 | 2.917528e-12 |
| TC | RALYL | exon_skip_160797 | 8.956826e-01 | 1.748903e-57 |
| TC | EWSR1 | exon_skip_160797 | 4.062076e-01 | 9.849580e-08 |
| TC | HNRNPH2 | exon_skip_160797 | 6.839512e-01 | 2.110918e-23 |
| TC | ESRP1 | exon_skip_160797 | 6.355384e-01 | 1.756109e-19 |
| TC | RALYL | exon_skip_70777 | -4.382357e-01 | 6.804694e-09 |
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RelatedDrugs for ABI2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ABI2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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