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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 ABL1 |
 Gene summary |
| Gene information | Gene symbol | ABL1 | Gene ID | 25 |
| Gene name | ABL proto-oncogene 1, non-receptor tyrosine kinase | |
| Synonyms | ABL|BCR-ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl | |
| Cytomap | 9q34.12 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase ABL1ABL protooncogene 1 nonreceptor tyrosine kinaseAbelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1truncated | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ABL1 | GO:0006974 | cellular response to DNA damage stimulus | 15657060 |
| ABL1 | GO:0006975 | DNA damage induced protein phosphorylation | 18280240 |
| ABL1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 7590236|9144171|10713049|11121037 |
| ABL1 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 10518561 |
| ABL1 | GO:0042770 | signal transduction in response to DNA damage | 9037071|15657060 |
| ABL1 | GO:0043065 | positive regulation of apoptotic process | 9037071 |
| ABL1 | GO:0046777 | protein autophosphorylation | 10713049 |
| ABL1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 15657060 |
| ABL1 | GO:0051353 | positive regulation of oxidoreductase activity | 12893824 |
| ABL1 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 20823226 |
| ABL1 | GO:0070301 | cellular response to hydrogen peroxide | 10713049 |
| ABL1 | GO:0071103 | DNA conformation change | 9558345 |
| ABL1 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 11121037 |
| ABL1 | GO:1990051 | activation of protein kinase C activity | 10713049 |
| ABL1 | GO:2001020 | regulation of response to DNA damage stimulus | 9461559 |
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Gene structures and expression levels for ABL1 |
| 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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ENSG00000097007
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 ABL1 |
| 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_263494 | chr9 | 130872860:130873037:130874868:130875052:130878415:130878567 | 130874868:130875052 |
| exon_skip_84504 | chr9 | 130854801:130855096:130862763:130863035:130872129:130872213 | 130862763:130863035 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ABL1 |
| 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 |
| ENST00000318560 | 130874868 | 130875052 | Frame-shift |
| 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 |
| ENST00000318560 | 130874868 | 130875052 | Frame-shift |
| 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 |
| ENST00000318560 | 130874868 | 130875052 | Frame-shift |
| ENST00000318560 | 130862763 | 130863035 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABL1 |
p-ENSG00000097007_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 |
| ENST00000318560 | 5783 | 1130 | 130862763 | 130863035 | 932 | 1203 | 183 | 274 |
| 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 |
| P00519 | 183 | 274 | 184 | 187 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DC4 |
| P00519 | 183 | 274 | 190 | 194 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DC4 |
| P00519 | 183 | 274 | 209 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DC4 |
| P00519 | 183 | 274 | 226 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MO4 |
| P00519 | 183 | 274 | 229 | 231 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQG |
| P00519 | 183 | 274 | 242 | 247 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 254 | 261 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 266 | 271 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 271 | 271 | Binding site | Note=ATP |
| P00519 | 183 | 274 | 1 | 1130 | Chain | ID=PRO_0000088050;Note=Tyrosine-protein kinase ABL1 |
| P00519 | 183 | 274 | 127 | 217 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| P00519 | 183 | 274 | 242 | 493 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P00519 | 183 | 274 | 195 | 202 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DC4 |
| P00519 | 183 | 274 | 239 | 241 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 248 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 262 | 264 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HU9 |
| P00519 | 183 | 274 | 185 | 185 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16912036;Dbxref=PMID:16912036 |
| P00519 | 183 | 274 | 215 | 215 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16912036;Dbxref=PMID:16912036 |
| P00519 | 183 | 274 | 226 | 226 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16912036;Dbxref=PMID:16912036 |
| P00519 | 183 | 274 | 229 | 229 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42684 |
| P00519 | 183 | 274 | 253 | 253 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P00519 | 183 | 274 | 257 | 257 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P00519 | 183 | 274 | 226 | 226 | Natural variant | ID=VAR_079482;Note=In CHDSKM%3B increases kinase activity%3B no effect on protein levels. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28288113;Dbxref=dbSNP:rs1060499547,PMID:28288113 |
| P00519 | 183 | 274 | 247 | 247 | Natural variant | ID=VAR_051693;Note=K->R;Dbxref=dbSNP:rs34549764 |
| P00519 | 183 | 274 | 248 | 256 | Nucleotide binding | Note=ATP |
| P00519 | 183 | 274 | 233 | 235 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G1T |
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3'-UTR located exon skipping events that lost miRNA binding sites in ABL1 |
| 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 ABL1 |
| - 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 ABL1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABL1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_263494 | rs7866565 | chr9:130891158 | 2.839133e-05 | 6.143033e-03 |
| CB | exon_skip_263494 | rs6597644 | chr9:130869524 | 1.407974e-04 | 2.265923e-02 |
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Correlation with RNA binding proteins (RBPs) for ABL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_263494 | -4.219281e-01 | 3.719541e-08 |
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RelatedDrugs for ABL1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P00519 | approved | DB00619 | Imatinib | small molecule | P00519 |
| P00519 | approved|investigational | DB01254 | Dasatinib | small molecule | P00519 |
| P00519 | approved|investigational | DB04868 | Nilotinib | small molecule | P00519 |
| P00519 | approved | DB06616 | Bosutinib | small molecule | P00519 |
| P00519 | approved | DB08896 | Regorafenib | small molecule | P00519 |
| P00519 | approved|investigational | DB08901 | Ponatinib | small molecule | P00519 |
| P00519 | approved|investigational | DB12010 | Fostamatinib | small molecule | P00519 |
| P00519 | approved|investigational | DB12267 | Brigatinib | small molecule | P00519 |
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RelatedDiseases for ABL1 |
| 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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