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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 ABL2 |
Gene summary |
| Gene information | Gene symbol | ABL2 | Gene ID | 27 |
| Gene name | ABL proto-oncogene 2, non-receptor tyrosine kinase | |
| Synonyms | ABLL|ARG | |
| Cytomap | 1q25.2 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase ABL2Abelson tyrosine-protein kinase 2abelson-related gene proteinc-abl oncogene 2, non-receptor tyrosine kinasetyrosine-protein kinase ARGv-abl Abelson murine leukemia viral oncogene homolog 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P42684 | |
| Context | PubMed: ABL2 [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 |
| ABL2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 15886098 |
| ABL2 | GO:0051353 | positive regulation of oxidoreductase activity | 12893824 |
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Exon skipping events across known transcript of Ensembl for ABL2 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 ABL2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ABL2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34858 | 1 | 179081443:179081533:179084012:179084165:179086466:179086651 | 179084012:179084165 | ENSG00000143322.15 | ENST00000392043.3,ENST00000511413.1,ENST00000502732.1,ENST00000507173.1,ENST00000504405.1,ENST00000408940.3,ENST00000367623.4,ENST00000512653.1,ENST00000344730.3 |
| exon_skip_34859 | 1 | 179084012:179084165:179086466:179086651:179087721:179087899 | 179086466:179086651 | ENSG00000143322.15 | ENST00000392043.3,ENST00000511413.1,ENST00000502732.1,ENST00000507173.1,ENST00000504405.1,ENST00000408940.3,ENST00000367623.4,ENST00000512653.1,ENST00000344730.3 |
| exon_skip_34861 | 1 | 179087721:179087899:179089324:179089409:179090729:179091002 | 179089324:179089409 | ENSG00000143322.15 | ENST00000392043.3,ENST00000509520.1,ENST00000511413.1,ENST00000502732.1,ENST00000507173.1,ENST00000504405.1,ENST00000408940.3,ENST00000367623.4,ENST00000512653.1,ENST00000344730.3,ENST00000504324.1 |
| exon_skip_34862 | 1 | 179090729:179091002:179095511:179095807:179100445:179100616 | 179095511:179095807 | ENSG00000143322.15 | ENST00000392043.3,ENST00000509520.1,ENST00000511413.1,ENST00000502732.1,ENST00000507173.1,ENST00000504405.1,ENST00000408940.3,ENST00000367623.4,ENST00000512653.1,ENST00000344730.3,ENST00000504324.1 |
| exon_skip_34863 | 1 | 179100445:179100616:179102446:179102509:179112067:179112179 | 179102446:179102509 | ENSG00000143322.15 | ENST00000512653.1,ENST00000344730.3,ENST00000504324.1 |
| exon_skip_34864 | 1 | 179100445:179100616:179102446:179102509:179198375:179198532 | 179102446:179102509 | ENSG00000143322.15 | ENST00000511413.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABL2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34858 | 1 | 179081443:179081533:179084012:179084165:179086466:179086651 | 179084012:179084165 | ENSG00000143322.15 | ENST00000502732.1,ENST00000408940.3,ENST00000344730.3,ENST00000512653.1,ENST00000504405.1,ENST00000367623.4,ENST00000507173.1,ENST00000511413.1,ENST00000392043.3 |
| exon_skip_34859 | 1 | 179084012:179084165:179086466:179086651:179087721:179087899 | 179086466:179086651 | ENSG00000143322.15 | ENST00000502732.1,ENST00000408940.3,ENST00000344730.3,ENST00000512653.1,ENST00000504405.1,ENST00000367623.4,ENST00000507173.1,ENST00000511413.1,ENST00000392043.3 |
| exon_skip_34861 | 1 | 179087721:179087899:179089324:179089409:179090729:179091002 | 179089324:179089409 | ENSG00000143322.15 | ENST00000502732.1,ENST00000408940.3,ENST00000344730.3,ENST00000512653.1,ENST00000504405.1,ENST00000367623.4,ENST00000507173.1,ENST00000511413.1,ENST00000392043.3,ENST00000509520.1,ENST00000504324.1 |
| exon_skip_34862 | 1 | 179090729:179091002:179095511:179095807:179100445:179100616 | 179095511:179095807 | ENSG00000143322.15 | ENST00000502732.1,ENST00000408940.3,ENST00000344730.3,ENST00000512653.1,ENST00000504405.1,ENST00000367623.4,ENST00000507173.1,ENST00000511413.1,ENST00000392043.3,ENST00000509520.1,ENST00000504324.1 |
| exon_skip_34863 | 1 | 179100445:179100616:179102446:179102509:179112067:179112179 | 179102446:179102509 | ENSG00000143322.15 | ENST00000344730.3,ENST00000512653.1,ENST00000504324.1 |
| exon_skip_34864 | 1 | 179100445:179100616:179102446:179102509:179198375:179198532 | 179102446:179102509 | ENSG00000143322.15 | ENST00000511413.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ABL2 |
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 |
| ENST00000502732 | 179086466 | 179086651 | Frame-shift |
| ENST00000502732 | 179089324 | 179089409 | Frame-shift |
| ENST00000502732 | 179095511 | 179095807 | Frame-shift |
| ENST00000502732 | 179084012 | 179084165 | In-frame |
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 |
| ENST00000502732 | 179086466 | 179086651 | Frame-shift |
| ENST00000502732 | 179089324 | 179089409 | Frame-shift |
| ENST00000502732 | 179095511 | 179095807 | Frame-shift |
| ENST00000502732 | 179084012 | 179084165 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABL2 |
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 |
| ENST00000502732 | 12161 | 1182 | 179084012 | 179084165 | 1613 | 1765 | 469 | 520 |
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 |
| ENST00000502732 | 12161 | 1182 | 179084012 | 179084165 | 1613 | 1765 | 469 | 520 |
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 ABL2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| UCEC | TCGA-D1-A176-01 | exon_skip_34858 | 179084013 | 179084165 | 179084039 | 179084039 | Frame_Shift_Del | G | - | p.P512fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_34859 | 179086467 | 179086651 | 179086603 | 179086603 | Frame_Shift_Del | T | - | p.K424fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_34859 | 179086467 | 179086651 | 179086622 | 179086622 | Frame_Shift_Del | C | - | p.G418fs |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_34862 | 179095512 | 179095807 | 179095686 | 179095687 | Frame_Shift_Del | GT | - | p.156_157del |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_34862 | 179095512 | 179095807 | 179095686 | 179095687 | Frame_Shift_Del | GT | - | p.H171fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_34862 | 179095512 | 179095807 | 179095689 | 179095689 | Frame_Shift_Del | T | - | p.K170fs |
| COAD | TCGA-CM-5861-01 | exon_skip_34858 | 179084013 | 179084165 | 179084038 | 179084039 | Frame_Shift_Ins | - | G | p.P497fs |
| UCEC | TCGA-B5-A0K0-01 | exon_skip_34858 | 179084013 | 179084165 | 179084038 | 179084039 | Frame_Shift_Ins | - | G | p.P512fs |
| LUSC | TCGA-39-5029-01 | exon_skip_34858 | 179084013 | 179084165 | 179084073 | 179084073 | Nonsense_Mutation | C | A | p.G501* |
| SKCM | TCGA-ER-A19G-06 | exon_skip_34862 | 179095512 | 179095807 | 179095764 | 179095764 | Nonsense_Mutation | C | T | p.W109X |
| SKCM | TCGA-ER-A19G-06 | exon_skip_34862 | 179095512 | 179095807 | 179095764 | 179095764 | Nonsense_Mutation | C | T | p.W145* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_34864 exon_skip_34863 | 179102447 | 179102509 | 179102510 | 179102510 | Splice_Site | C | A | e2-1 |
- 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 |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179084013 | 179084165 | 179084039 | 179084039 | Frame_Shift_Del | G | - | p.P512fs |
| SNU81_LARGE_INTESTINE | 179086467 | 179086651 | 179086472 | 179086472 | Missense_Mutation | A | C | p.V468G |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179086467 | 179086651 | 179086485 | 179086485 | Missense_Mutation | T | C | p.I464V |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179086467 | 179086651 | 179086520 | 179086520 | Missense_Mutation | G | T | p.T452K |
| HCC1569_BREAST | 179086467 | 179086651 | 179086521 | 179086521 | Missense_Mutation | T | C | p.T452A |
| CAKI2_KIDNEY | 179086467 | 179086651 | 179086526 | 179086526 | Missense_Mutation | T | C | p.K450R |
| C75_LARGE_INTESTINE | 179086467 | 179086651 | 179086541 | 179086541 | Missense_Mutation | G | C | p.A445G |
| NCIH1155_LUNG | 179086467 | 179086651 | 179086548 | 179086548 | Missense_Mutation | C | T | p.A443T |
| SW48_LARGE_INTESTINE | 179089325 | 179089409 | 179089336 | 179089336 | Missense_Mutation | A | G | p.V345A |
| SNU1040_LARGE_INTESTINE | 179089325 | 179089409 | 179089336 | 179089336 | Missense_Mutation | A | G | p.V345A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179089325 | 179089409 | 179089363 | 179089363 | Missense_Mutation | A | G | p.M336T |
| OC316_OVARY | 179089325 | 179089409 | 179089373 | 179089373 | Missense_Mutation | C | T | p.A333T |
| OC314_OVARY | 179089325 | 179089409 | 179089373 | 179089373 | Missense_Mutation | C | T | p.A333T |
| OCUBM_BREAST | 179095512 | 179095807 | 179095540 | 179095540 | Missense_Mutation | T | C | p.Y220C |
| CW2_LARGE_INTESTINE | 179095512 | 179095807 | 179095547 | 179095547 | Missense_Mutation | A | G | p.Y218H |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179095512 | 179095807 | 179095547 | 179095547 | Missense_Mutation | A | G | p.Y218H |
| MET2B | 179095512 | 179095807 | 179095637 | 179095637 | Missense_Mutation | T | C | p.S188G |
| CW2_LARGE_INTESTINE | 179095512 | 179095807 | 179095652 | 179095652 | Missense_Mutation | C | T | p.A183T |
| CL40_LARGE_INTESTINE | 179095512 | 179095807 | 179095723 | 179095723 | Missense_Mutation | C | T | p.S159N |
| LNCAPCLONEFGC_PROSTATE | 179095512 | 179095807 | 179095795 | 179095795 | Missense_Mutation | C | T | p.R135Q |
| HCC2108_LUNG | 179102447 | 179102509 | 179102450 | 179102450 | Missense_Mutation | G | C | p.P73A |
| MORCPR_LUNG | 179102447 | 179102509 | 179102450 | 179102450 | Missense_Mutation | G | C | p.P73A |
| EN_ENDOMETRIUM | 179102447 | 179102509 | 179102462 | 179102462 | Missense_Mutation | C | G | p.G69R |
| HEC1_ENDOMETRIUM | 179084013 | 179084165 | 179084067 | 179084067 | Nonsense_Mutation | G | A | p.R503* |
| COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179095512 | 179095807 | 179095604 | 179095604 | Nonsense_Mutation | C | A | p.E199* |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179095512 | 179095807 | 179095796 | 179095796 | Nonsense_Mutation | G | A | p.R135* |
| NCIH650_LUNG | 179086467 | 179086651 | 179086468 | 179086468 | Splice_Site | C | G | p.W469C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABL2 |
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 ABL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABL2 |
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RelatedDrugs for ABL2 |
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 |
| P42684 | DB01254 | Dasatinib | Tyrosine-protein kinase ABL2 | small molecule | approved|investigational | |
| P42684 | DB12010 | Fostamatinib | Tyrosine-protein kinase ABL2 | small molecule | approved|investigational |
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RelatedDiseases for ABL2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |