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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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|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 | 20180522 | |
| UniProtAcc | Q9NYB9 | |
| Context | PubMed: ABI2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for ABI2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ABI2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ABI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332675 | 2 | 204193117:204193354:204206919:204206953:204231599:204231767 | 204206919:204206953 | ENSG00000138443.11 | ENST00000413635.1 |
| exon_skip_332678 | 2 | 204193206:204193354:204216277:204216401:204231599:204231680 | 204216277:204216401 | ENSG00000138443.11 | ENST00000447762.1 |
| exon_skip_332682 | 2 | 204193206:204193354:204219876:204220047:204231599:204231680 | 204219876:204220047 | ENSG00000138443.11 | ENST00000425253.1 |
| exon_skip_332684 | 2 | 204193206:204193354:204231599:204231719:204267298:204267457 | 204231599:204231719 | ENSG00000138443.11 | ENST00000416001.1 |
| exon_skip_332685 | 2 | 204193206:204193354:204231599:204231767:204240779:204240855 | 204231599:204231767 | ENSG00000138443.11 | ENST00000261016.6,ENST00000441061.1 |
| exon_skip_332686 | 2 | 204193206:204193354:204231599:204231767:204244930:204244996 | 204231599:204231767 | ENSG00000138443.11 | ENST00000261017.5,ENST00000422511.2,ENST00000430418.1,ENST00000376135.3,ENST00000424558.1,ENST00000417864.1 |
| exon_skip_332700 | 2 | 204231606:204231767:204239542:204239575:204240779:204240855 | 204239542:204239575 | ENSG00000138443.11 | ENST00000431886.1,ENST00000444584.1 |
| exon_skip_332701 | 2 | 204231606:204231767:204240779:204240855:204244930:204244996 | 204240779:204240855 | ENSG00000138443.11 | ENST00000261016.6,ENST00000441061.1 |
| exon_skip_332703 | 2 | 204231606:204231767:204244930:204245107:204255768:204255866 | 204244930:204245107 | ENSG00000138443.11 | ENST00000261017.5,ENST00000430418.1,ENST00000424558.1 |
| exon_skip_332709 | 2 | 204245080:204245107:204246911:204246929:204255768:204255866 | 204246911:204246929 | ENSG00000138443.11 | ENST00000411547.1,ENST00000422511.2,ENST00000295851.5,ENST00000417864.1 |
| exon_skip_332712 | 2 | 204245080:204245107:204255768:204255866:204259422:204259569 | 204255768:204255866 | ENSG00000138443.11 | ENST00000261016.6,ENST00000451591.2,ENST00000261017.5,ENST00000430574.1,ENST00000441061.1,ENST00000424558.1 |
| exon_skip_332716 | 2 | 204255768:204255866:204259422:204259569:204260378:204260503 | 204259422:204259569 | ENSG00000138443.11 | ENST00000261016.6,ENST00000261017.5,ENST00000422511.2,ENST00000295851.5,ENST00000430574.1,ENST00000454023.1,ENST00000441061.1,ENST00000424558.1,ENST00000417864.1 |
| exon_skip_332717 | 2 | 204255768:204255866:204259422:204259569:204260381:204260503 | 204259422:204259569 | ENSG00000138443.11 | ENST00000451591.2 |
| exon_skip_332719 | 2 | 204255768:204255866:204260378:204260503:204267298:204267400 | 204260378:204260503 | ENSG00000138443.11 | ENST00000422719.1 |
| exon_skip_332721 | 2 | 204259470:204259569:204260378:204260503:204267298:204267400 | 204260378:204260503 | ENSG00000138443.11 | ENST00000261016.6,ENST00000261017.5,ENST00000430574.1,ENST00000454023.1,ENST00000441061.1 |
| exon_skip_332722 | 2 | 204259470:204259569:204260381:204260503:204267298:204267400 | 204260381:204260503 | ENSG00000138443.11 | ENST00000451591.2 |
| exon_skip_332724 | 2 | 204260381:204260503:204261507:204261690:204267298:204267400 | 204261507:204261690 | ENSG00000138443.11 | ENST00000261018.7,ENST00000411547.1,ENST00000430418.1,ENST00000295851.5,ENST00000424558.1,ENST00000417864.1 |
| exon_skip_332725 | 2 | 204260378:204260503:204261606:204261690:204267298:204267400 | 204261606:204261690 | ENSG00000138443.11 | ENST00000422511.2 |
| exon_skip_332727 | 2 | 204267428:204267457:204268039:204268084:204281630:204281695 | 204268039:204268084 | ENSG00000138443.11 | ENST00000430574.1 |
| exon_skip_332734 | 2 | 204267428:204267457:204276007:204276094:204281630:204281695 | 204276007:204276094 | ENSG00000138443.11 | ENST00000261017.5,ENST00000464761.1,ENST00000416396.1 |
| exon_skip_332736 | 2 | 204267428:204267457:204281630:204281804:204291899:204291942 | 204281630:204281804 | ENSG00000138443.11 | ENST00000261016.6,ENST00000261018.7,ENST00000422511.2,ENST00000416001.1,ENST00000430418.1,ENST00000295851.5,ENST00000454023.1,ENST00000441061.1,ENST00000424558.1,ENST00000417864.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332675 | 2 | 204193117:204193354:204206919:204206953:204231599:204231767 | 204206919:204206953 | ENSG00000138443.11 | ENST00000413635.1 |
| exon_skip_332678 | 2 | 204193206:204193354:204216277:204216401:204231599:204231680 | 204216277:204216401 | ENSG00000138443.11 | ENST00000447762.1 |
| exon_skip_332682 | 2 | 204193206:204193354:204219876:204220047:204231599:204231680 | 204219876:204220047 | ENSG00000138443.11 | ENST00000425253.1 |
| exon_skip_332684 | 2 | 204193206:204193354:204231599:204231719:204267298:204267457 | 204231599:204231719 | ENSG00000138443.11 | ENST00000416001.1 |
| exon_skip_332685 | 2 | 204193206:204193354:204231599:204231767:204240779:204240855 | 204231599:204231767 | ENSG00000138443.11 | ENST00000441061.1,ENST00000261016.6 |
| exon_skip_332686 | 2 | 204193206:204193354:204231599:204231767:204244930:204244996 | 204231599:204231767 | ENSG00000138443.11 | ENST00000261017.5,ENST00000430418.1,ENST00000424558.1,ENST00000417864.1,ENST00000376135.3,ENST00000422511.2 |
| exon_skip_332700 | 2 | 204231606:204231767:204239542:204239575:204240779:204240855 | 204239542:204239575 | ENSG00000138443.11 | ENST00000431886.1,ENST00000444584.1 |
| exon_skip_332701 | 2 | 204231606:204231767:204240779:204240855:204244930:204244996 | 204240779:204240855 | ENSG00000138443.11 | ENST00000441061.1,ENST00000261016.6 |
| exon_skip_332703 | 2 | 204231606:204231767:204244930:204245107:204255768:204255866 | 204244930:204245107 | ENSG00000138443.11 | ENST00000261017.5,ENST00000430418.1,ENST00000424558.1 |
| exon_skip_332709 | 2 | 204245080:204245107:204246911:204246929:204255768:204255866 | 204246911:204246929 | ENSG00000138443.11 | ENST00000295851.5,ENST00000417864.1,ENST00000422511.2,ENST00000411547.1 |
| exon_skip_332712 | 2 | 204245080:204245107:204255768:204255866:204259422:204259569 | 204255768:204255866 | ENSG00000138443.11 | ENST00000261017.5,ENST00000441061.1,ENST00000424558.1,ENST00000261016.6,ENST00000430574.1,ENST00000451591.2 |
| exon_skip_332716 | 2 | 204255768:204255866:204259422:204259569:204260378:204260503 | 204259422:204259569 | ENSG00000138443.11 | ENST00000295851.5,ENST00000261017.5,ENST00000441061.1,ENST00000424558.1,ENST00000261016.6,ENST00000417864.1,ENST00000422511.2,ENST00000430574.1,ENST00000454023.1 |
| exon_skip_332717 | 2 | 204255768:204255866:204259422:204259569:204260381:204260503 | 204259422:204259569 | ENSG00000138443.11 | ENST00000451591.2 |
| exon_skip_332719 | 2 | 204255768:204255866:204260378:204260503:204267298:204267400 | 204260378:204260503 | ENSG00000138443.11 | ENST00000422719.1 |
| exon_skip_332721 | 2 | 204259470:204259569:204260378:204260503:204267298:204267400 | 204260378:204260503 | ENSG00000138443.11 | ENST00000261017.5,ENST00000441061.1,ENST00000261016.6,ENST00000430574.1,ENST00000454023.1 |
| exon_skip_332722 | 2 | 204259470:204259569:204260381:204260503:204267298:204267400 | 204260381:204260503 | ENSG00000138443.11 | ENST00000451591.2 |
| exon_skip_332724 | 2 | 204260381:204260503:204261507:204261690:204267298:204267400 | 204261507:204261690 | ENSG00000138443.11 | ENST00000295851.5,ENST00000430418.1,ENST00000424558.1,ENST00000417864.1,ENST00000411547.1,ENST00000261018.7 |
| exon_skip_332725 | 2 | 204260378:204260503:204261606:204261690:204267298:204267400 | 204261606:204261690 | ENSG00000138443.11 | ENST00000422511.2 |
| exon_skip_332727 | 2 | 204267428:204267457:204268039:204268084:204281630:204281695 | 204268039:204268084 | ENSG00000138443.11 | ENST00000430574.1 |
| exon_skip_332734 | 2 | 204267428:204267457:204276007:204276094:204281630:204281695 | 204276007:204276094 | ENSG00000138443.11 | ENST00000261017.5,ENST00000416396.1,ENST00000464761.1 |
| exon_skip_332736 | 2 | 204267428:204267457:204281630:204281804:204291899:204291942 | 204281630:204281804 | ENSG00000138443.11 | ENST00000295851.5,ENST00000441061.1,ENST00000416001.1,ENST00000430418.1,ENST00000424558.1,ENST00000261016.6,ENST00000417864.1,ENST00000422511.2,ENST00000261018.7,ENST00000454023.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA 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 GTEx 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 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for ABI2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332717 exon_skip_332716 | 204259423 | 204259569 | 204259431 | 204259431 | Frame_Shift_Del | C | - | p.S196fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332721 exon_skip_332722 exon_skip_332719 | 204260379 | 204260503 | 204260454 | 204260454 | Frame_Shift_Del | G | - | p.V267fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332721 exon_skip_332722 exon_skip_332719 | 204260382 | 204260503 | 204260454 | 204260454 | Frame_Shift_Del | G | - | p.V267fs |
| UCEC | TCGA-AP-A056-01 | 204231600 | 204231719 | 204231627 | 204231627 | Nonsense_Mutation | G | T | p.E49* | |
| UCEC | TCGA-AP-A056-01 | 204231600 | 204231767 | 204231627 | 204231627 | Nonsense_Mutation | G | T | p.E49* | |
| UCEC | TCGA-D1-A17Q-01 | 204231600 | 204231719 | 204231627 | 204231627 | Nonsense_Mutation | G | T | p.E49* | |
| UCEC | TCGA-D1-A17Q-01 | 204231600 | 204231767 | 204231627 | 204231627 | Nonsense_Mutation | G | T | p.E49* | |
| PAAD | TCGA-IB-7651-01 | 204231600 | 204231719 | 204231708 | 204231708 | Nonsense_Mutation | C | A | p.C5* | |
| PAAD | TCGA-IB-7651-01 | 204231600 | 204231767 | 204231708 | 204231708 | Nonsense_Mutation | C | A | p.C5* | |
| ESCA | TCGA-2H-A9GO-01 | exon_skip_332703 | 204244931 | 204245107 | 204244967 | 204244967 | Nonsense_Mutation | G | T | p.E108X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_332703 | 204244931 | 204245107 | 204244967 | 204244967 | Nonsense_Mutation | G | T | p.E108* |
| GBM | TCGA-06-5411-01 | exon_skip_332721 exon_skip_332722 exon_skip_332719 | 204260379 | 204260503 | 204260428 | 204260428 | Nonsense_Mutation | C | T | p.R259* |
| GBM | TCGA-06-5411-01 | exon_skip_332721 exon_skip_332722 exon_skip_332719 | 204260382 | 204260503 | 204260428 | 204260428 | Nonsense_Mutation | C | T | p.R259* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNU1040_LARGE_INTESTINE | 204281631 | 204281804 | 204281693 | 204281695 | In_Frame_Del | CCT | - | p.P390del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 204231600 | 204231767 | 204231755 | 204231755 | Missense_Mutation | T | C | p.I21T |
| JHUEM7_ENDOMETRIUM | 204244931 | 204245107 | 204245048 | 204245048 | Missense_Mutation | C | T | p.R135C |
| GP2D_LARGE_INTESTINE | 204255769 | 204255866 | 204255775 | 204255775 | Missense_Mutation | A | G | p.T163A |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 204255769 | 204255866 | 204255823 | 204255823 | Missense_Mutation | C | G | p.Q179E |
| MFE319_ENDOMETRIUM | 204255769 | 204255866 | 204255833 | 204255833 | Missense_Mutation | C | A | p.P182H |
| HKA1_SKIN | 204259423 | 204259569 | 204259428 | 204259428 | Missense_Mutation | A | T | p.H195L |
| NCIH1105_LUNG | 204260379 | 204260503 | 204260398 | 204260398 | Missense_Mutation | G | A | p.G249R |
| NCIH1105_LUNG | 204260382 | 204260503 | 204260398 | 204260398 | Missense_Mutation | G | A | p.G249R |
| NCIH2085_LUNG | 204260379 | 204260503 | 204260413 | 204260413 | Missense_Mutation | A | G | p.S254G |
| NCIH2085_LUNG | 204260382 | 204260503 | 204260413 | 204260413 | Missense_Mutation | A | G | p.S254G |
| BT20_BREAST | 204260379 | 204260503 | 204260470 | 204260470 | Missense_Mutation | G | A | p.V273I |
| BT20_BREAST | 204260382 | 204260503 | 204260470 | 204260470 | Missense_Mutation | G | A | p.V273I |
| HCT116_LARGE_INTESTINE | 204261508 | 204261690 | 204261562 | 204261562 | Missense_Mutation | C | A | p.P302H |
| GP2D_LARGE_INTESTINE | 204261508 | 204261690 | 204261601 | 204261601 | Missense_Mutation | C | T | p.A315V |
| GP2D_LARGE_INTESTINE | 204261607 | 204261690 | 204261601 | 204261601 | Missense_Mutation | C | T | p.A315V |
| CAMA1_BREAST | 204261508 | 204261690 | 204261639 | 204261639 | Missense_Mutation | G | T | p.D295Y |
| CAMA1_BREAST | 204261607 | 204261690 | 204261639 | 204261639 | Missense_Mutation | G | T | p.D295Y |
| COGAR359_SOFT_TISSUE | 204276008 | 204276094 | 204276092 | 204276092 | Missense_Mutation | A | G | p.N359S |
| DOV13_OVARY | 204281631 | 204281804 | 204281754 | 204281754 | Missense_Mutation | C | A | p.P406H |
| HS294T_SKIN | 204281631 | 204281804 | 204281754 | 204281754 | Missense_Mutation | C | A | p.P406H |
| HPAC_PANCREAS | 204281631 | 204281804 | 204281775 | 204281775 | Missense_Mutation | C | T | p.P413L |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 204281631 | 204281804 | 204281780 | 204281780 | Missense_Mutation | G | A | p.A415T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABI2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABI2 |
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RelatedDrugs for ABI2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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