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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 ABI1 |
 Gene summary |
| Gene information | Gene symbol | ABI1 | Gene ID | 10006 |
| Gene name | abl interactor 1 | |
| Synonyms | ABI-1|ABLBP4|E3B1|NAP1BP|SSH3BP|SSH3BP1 | |
| Cytomap | 10p12.1 | |
| Type of gene | protein-coding | |
| Description | abl interactor 1Abelson interactor 1Abl-interactor protein 1 longabl-binding protein 4eps8 SH3 domain-binding proteininteractor protein AblBP4nap1 binding proteinspectrin SH3 domain-binding protein 1 | |
| 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 |
| ABI1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 17101133 |
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Gene structures and expression levels for ABI1 |
| 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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ENSG00000136754
| 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 |
| STG | UP | ENST00000376142.6 | ABI1-207:protein_coding:ABI1 | 1.625986e+01 | 2.331104e+01 | 1.014693e-36 | 5.545973e-33 |
| CB | DOWN | ENST00000490841.6 | ABI1-212:protein_coding:ABI1 | 1.007660e+02 | -3.554926e+00 | 1.413421e-04 | 9.946369e-04 |
| CB | UP | ENST00000536334.5 | ABI1-213:protein_coding:ABI1 | 1.294914e+02 | 1.149282e+00 | 1.613870e-04 | 1.111254e-03 |
| TC | DOWN | ENST00000490841.6 | ABI1-212:protein_coding:ABI1 | 5.446030e+01 | -3.587664e+00 | 9.781200e-05 | 1.584762e-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 ABI1 |
| 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_106470 | chr10 | 26770293:26770345:26771075:26771089:26777065:26777241 | 26771075:26771089 |
| exon_skip_113530 | chr10 | 26751598:26751783:26755655:26755741:26765218:26765318 | 26755655:26755741 |
| exon_skip_124036 | chr10 | 26755655:26755741:26759062:26759235:26765218:26765309 | 26759062:26759235 |
| exon_skip_124749 | chr10 | 26751598:26751783:26759062:26759238:26765218:26765309 | 26759062:26759238 |
| exon_skip_127465 | chr10 | 26751598:26751783:26759062:26759235:26765218:26765318 | 26759062:26759235 |
| exon_skip_137542 | chr10 | 26770245:26770345:26771075:26771089:26777065:26777241 | 26771075:26771089 |
| exon_skip_191666 | chr10 | 26823138:26823305:26839733:26839783:26860747:26860986 | 26839733:26839783 |
| exon_skip_214209 | chr10 | 26755655:26755741:26759062:26759238:26765218:26765318 | 26759062:26759238 |
| exon_skip_214525 | chr10 | 26751598:26751783:26759062:26759238:26765218:26765318 | 26759062:26759238 |
| exon_skip_221588 | chr10 | 26751598:26751783:26759062:26759235:26765218:26765309 | 26759062:26759235 |
| exon_skip_224642 | chr10 | 26770245:26770345:26777065:26777241:26823138:26823305 | 26777065:26777241 |
| exon_skip_224801 | chr10 | 26770245:26770345:26777065:26777241:26823138:26823298 | 26777065:26777241 |
| exon_skip_251127 | chr10 | 26751598:26751783:26759062:26759238:26763880:26763930 | 26759062:26759238 |
| exon_skip_253838 | chr10 | 26751598:26751783:26759062:26759238:26763880:26763960 | 26759062:26759238 |
| exon_skip_267982 | chr10 | 26759062:26759238:26763880:26763960:26765218:26765309 | 26763880:26763960 |
| exon_skip_279836 | chr10 | 26755655:26755741:26759062:26759235:26765218:26765318 | 26759062:26759235 |
| exon_skip_41778 | chr10 | 26751598:26751783:26755655:26755741:26759062:26759235 | 26755655:26755741 |
| exon_skip_42693 | chr10 | 26751598:26751783:26755655:26755741:26765218:26765309 | 26755655:26755741 |
| exon_skip_50564 | chr10 | 26759062:26759238:26763880:26763960:26765218:26765318 | 26763880:26763960 |
| exon_skip_5476 | chr10 | 26755655:26755741:26759062:26759238:26763880:26763960 | 26759062:26759238 |
| exon_skip_66702 | chr10 | 26748570:26748745:26751598:26751783:26765218:26765318 | 26751598:26751783 |
| exon_skip_67962 | chr10 | 26765218:26765318:26768852:26768992:26770245:26770345 | 26768852:26768992 |
| exon_skip_74765 | chr10 | 26755655:26755741:26759062:26759238:26765218:26765309 | 26759062:26759238 |
| 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_113530 | Mayo_CB | 6.489744e-01 | 7.837500e-01 | -1.347756e-01 | 5.794957e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for ABI1 |
| 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 |
| ENST00000376142 | 26755655 | 26755741 | In-frame |
| ENST00000376142 | 26759062 | 26759238 | In-frame |
| ENST00000376142 | 26763880 | 26763960 | In-frame |
| ENST00000376142 | 26768852 | 26768992 | In-frame |
| ENST00000376142 | 26771075 | 26771089 | In-frame |
| 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 |
| ENST00000376142 | 26755655 | 26755741 | In-frame |
| ENST00000376142 | 26763880 | 26763960 | In-frame |
| ENST00000376142 | 26768852 | 26768992 | In-frame |
| ENST00000376142 | 26771075 | 26771089 | In-frame |
| 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 |
| ENST00000376142 | 26755655 | 26755741 | In-frame |
| ENST00000376142 | 26759062 | 26759238 | In-frame |
| ENST00000376142 | 26763880 | 26763960 | In-frame |
| ENST00000376142 | 26768852 | 26768992 | In-frame |
| ENST00000376142 | 26771075 | 26771089 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABI1 |
p-ENSG00000136754_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 |
| ENST00000376142 | 3593 | 508 | 26768852 | 26768992 | 651 | 790 | 193 | 239 |
| ENST00000376142 | 3593 | 508 | 26763880 | 26763960 | 893 | 972 | 273 | 300 |
| ENST00000376142 | 3593 | 508 | 26759062 | 26759238 | 974 | 1149 | 300 | 359 |
| ENST00000376142 | 3593 | 508 | 26755655 | 26755741 | 1151 | 1236 | 359 | 388 |
| 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 |
| ENST00000376142 | 3593 | 508 | 26768852 | 26768992 | 651 | 790 | 193 | 239 |
| ENST00000376142 | 3593 | 508 | 26763880 | 26763960 | 893 | 972 | 273 | 300 |
| ENST00000376142 | 3593 | 508 | 26755655 | 26755741 | 1151 | 1236 | 359 | 388 |
| 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 |
| ENST00000376142 | 3593 | 508 | 26768852 | 26768992 | 651 | 790 | 193 | 239 |
| ENST00000376142 | 3593 | 508 | 26763880 | 26763960 | 893 | 972 | 273 | 300 |
| ENST00000376142 | 3593 | 508 | 26759062 | 26759238 | 974 | 1149 | 300 | 359 |
| ENST00000376142 | 3593 | 508 | 26755655 | 26755741 | 1151 | 1236 | 359 | 388 |
| 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 |
| Q8IZP0 | 193 | 239 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 193 | 239 | 213 | 213 | Modified residue | Note=Phosphotyrosine%3B by ABL1;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18328268;Dbxref=PMID:23186163,PMID:18328268 |
| Q8IZP0 | 193 | 239 | 215 | 215 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CBW3 |
| Q8IZP0 | 193 | 239 | 216 | 216 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q8IZP0 | 193 | 239 | 222 | 222 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:24275569 |
| Q8IZP0 | 193 | 239 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMe |
| Q8IZP0 | 273 | 300 | 274 | 300 | Alternative sequence | ID=VSP_010750;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000 |
| Q8IZP0 | 273 | 300 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 273 | 300 | 260 | 418 | Compositional bias | Note=Pro-rich |
| Q8IZP0 | 300 | 359 | 274 | 300 | Alternative sequence | ID=VSP_010750;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000 |
| Q8IZP0 | 300 | 359 | 301 | 301 | Alternative sequence | ID=VSP_010751;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:000030 |
| Q8IZP0 | 300 | 359 | 302 | 359 | Alternative sequence | ID=VSP_010754;Note=In isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5 |
| Q8IZP0 | 300 | 359 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 300 | 359 | 260 | 418 | Compositional bias | Note=Pro-rich |
| Q8IZP0 | 300 | 359 | 319 | 319 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8IZP0 | 300 | 359 | 323 | 323 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| Q8IZP0 | 300 | 359 | 331 | 331 | Natural variant | ID=VAR_048159;Note=G->A;Dbxref=dbSNP:rs2306236 |
| Q8IZP0 | 359 | 388 | 302 | 359 | Alternative sequence | ID=VSP_010754;Note=In isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 360 | 388 | Alternative sequence | ID=VSP_010752;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 8%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11418237,ECO:00003 |
| Q8IZP0 | 359 | 388 | 360 | 360 | Alternative sequence | ID=VSP_010755;Note=In isoform 7. I->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 359 | 388 | 260 | 418 | Compositional bias | Note=Pro-rich |
| 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 |
| Q8IZP0 | 193 | 239 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 193 | 239 | 213 | 213 | Modified residue | Note=Phosphotyrosine%3B by ABL1;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18328268;Dbxref=PMID:23186163,PMID:18328268 |
| Q8IZP0 | 193 | 239 | 215 | 215 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CBW3 |
| Q8IZP0 | 193 | 239 | 216 | 216 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q8IZP0 | 193 | 239 | 222 | 222 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:24275569 |
| Q8IZP0 | 193 | 239 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMe |
| Q8IZP0 | 273 | 300 | 274 | 300 | Alternative sequence | ID=VSP_010750;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000 |
| Q8IZP0 | 273 | 300 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 273 | 300 | 260 | 418 | Compositional bias | Note=Pro-rich |
| Q8IZP0 | 359 | 388 | 302 | 359 | Alternative sequence | ID=VSP_010754;Note=In isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 360 | 388 | Alternative sequence | ID=VSP_010752;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 8%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11418237,ECO:00003 |
| Q8IZP0 | 359 | 388 | 360 | 360 | Alternative sequence | ID=VSP_010755;Note=In isoform 7. I->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 359 | 388 | 260 | 418 | Compositional bias | Note=Pro-rich |
| 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 |
| Q8IZP0 | 193 | 239 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 193 | 239 | 213 | 213 | Modified residue | Note=Phosphotyrosine%3B by ABL1;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:18328268;Dbxref=PMID:23186163,PMID:18328268 |
| Q8IZP0 | 193 | 239 | 215 | 215 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CBW3 |
| Q8IZP0 | 193 | 239 | 216 | 216 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q8IZP0 | 193 | 239 | 222 | 222 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:24275569 |
| Q8IZP0 | 193 | 239 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMe |
| Q8IZP0 | 273 | 300 | 274 | 300 | Alternative sequence | ID=VSP_010750;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000 |
| Q8IZP0 | 273 | 300 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 273 | 300 | 260 | 418 | Compositional bias | Note=Pro-rich |
| Q8IZP0 | 300 | 359 | 274 | 300 | Alternative sequence | ID=VSP_010750;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000 |
| Q8IZP0 | 300 | 359 | 301 | 301 | Alternative sequence | ID=VSP_010751;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:000030 |
| Q8IZP0 | 300 | 359 | 302 | 359 | Alternative sequence | ID=VSP_010754;Note=In isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5 |
| Q8IZP0 | 300 | 359 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 300 | 359 | 260 | 418 | Compositional bias | Note=Pro-rich |
| Q8IZP0 | 300 | 359 | 319 | 319 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8IZP0 | 300 | 359 | 323 | 323 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| Q8IZP0 | 300 | 359 | 331 | 331 | Natural variant | ID=VAR_048159;Note=G->A;Dbxref=dbSNP:rs2306236 |
| Q8IZP0 | 359 | 388 | 302 | 359 | Alternative sequence | ID=VSP_010754;Note=In isoform 7%2C isoform 8%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12681507,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 360 | 388 | Alternative sequence | ID=VSP_010752;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 8%2C isoform 10%2C isoform 11 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11418237,ECO:00003 |
| Q8IZP0 | 359 | 388 | 360 | 360 | Alternative sequence | ID=VSP_010755;Note=In isoform 7. I->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q8IZP0 | 359 | 388 | 2 | 508 | Chain | ID=PRO_0000191787;Note=Abl interactor 1 |
| Q8IZP0 | 359 | 388 | 260 | 418 | Compositional bias | Note=Pro-rich |
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3'-UTR located exon skipping events that lost miRNA binding sites in ABI1 |
| 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 ABI1 |
| - 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 ABI1 |
| 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 ABI1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_214525 | rs1998633 | chr10:26758711 | 7.158618e-04 | 4.501352e-02 |
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Correlation with RNA binding proteins (RBPs) for ABI1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_113530 | -4.179758e-01 | 5.032285e-07 |
| CB | PCBP4 | exon_skip_113530 | 5.402978e-01 | 1.607018e-11 |
| CB | HNRNPL | exon_skip_214525 | -4.006490e-01 | 2.622182e-07 |
| CB | PCBP2 | exon_skip_125854 | -4.348677e-01 | 7.733571e-07 |
| CB | PABPC3 | exon_skip_125854 | 5.055225e-01 | 4.522688e-09 |
| CB | CELF1 | exon_skip_125854 | -4.330047e-01 | 8.723851e-07 |
| CB | RBM23 | exon_skip_125854 | -4.161355e-01 | 2.515357e-06 |
| CB | RBM45 | exon_skip_279836 | -5.318137e-01 | 2.117775e-12 |
| CB | RBM45 | exon_skip_214209 | -4.458717e-01 | 5.440892e-09 |
| CB | RALYL | exon_skip_63686 | -4.198000e-01 | 5.971939e-08 |
| CB | PCBP2 | exon_skip_50564 | -4.259178e-01 | 2.179186e-08 |
| CB | RALYL | exon_skip_50564 | -4.816137e-01 | 1.303098e-10 |
| DLPFC | ELAVL4 | exon_skip_214209 | -4.450374e-01 | 3.207607e-15 |
| DLPFC | ELAVL4 | exon_skip_279836 | -4.227558e-01 | 7.241429e-12 |
| DLPFC | HNRNPL | exon_skip_279836 | -4.004866e-01 | 1.066673e-10 |
| HCC | RBM6 | exon_skip_127465 | 5.216125e-01 | 4.947984e-20 |
| HCC | TIA1 | exon_skip_127465 | 4.171010e-01 | 1.158721e-12 |
| HCC | ANKHD1 | exon_skip_127465 | 4.164357e-01 | 1.268420e-12 |
| HCC | FUBP1 | exon_skip_127465 | 4.596292e-01 | 2.319730e-15 |
| HCC | RBM45 | exon_skip_127465 | 4.499298e-01 | 1.033832e-14 |
| HCC | PTBP1 | exon_skip_127465 | 5.385299e-01 | 1.759378e-21 |
| HCC | HNRNPF | exon_skip_127465 | 4.234359e-01 | 4.847797e-13 |
| HCC | RBM6 | exon_skip_214525 | 5.394019e-01 | 7.355365e-22 |
| HCC | SRSF11 | exon_skip_214525 | 4.715695e-01 | 2.070454e-16 |
| HCC | CNOT4 | exon_skip_214525 | 4.423936e-01 | 2.052802e-14 |
| HCC | TIA1 | exon_skip_214525 | 4.641509e-01 | 6.947956e-16 |
| HCC | PCBP1 | exon_skip_214525 | 4.083538e-01 | 2.582483e-12 |
| HCC | ANKHD1 | exon_skip_214525 | 4.581806e-01 | 1.802384e-15 |
| HCC | FUBP1 | exon_skip_214525 | 4.702375e-01 | 2.578746e-16 |
| HCC | RBM45 | exon_skip_214525 | 4.907586e-01 | 7.859684e-18 |
| HCC | PTBP1 | exon_skip_214525 | 5.668851e-01 | 1.929582e-24 |
| HCC | HNRNPF | exon_skip_214525 | 4.688824e-01 | 3.220995e-16 |
| HCC | RBM6 | exon_skip_125854 | 5.119954e-01 | 1.416060e-18 |
| HCC | SRSF11 | exon_skip_125854 | 4.365885e-01 | 2.194952e-13 |
| HCC | TRA2A | exon_skip_125854 | 4.099034e-01 | 7.796544e-12 |
| HCC | PABPC3 | exon_skip_125854 | 4.406563e-01 | 1.238458e-13 |
| HCC | SRSF5 | exon_skip_125854 | 4.077528e-01 | 1.025651e-11 |
| HCC | RBM6 | exon_skip_279836 | 5.762121e-01 | 5.096138e-25 |
| HCC | TIA1 | exon_skip_279836 | 4.245670e-01 | 4.141363e-13 |
| HCC | PCBP1 | exon_skip_279836 | 4.167619e-01 | 1.213429e-12 |
| HCC | ANKHD1 | exon_skip_279836 | 4.217707e-01 | 6.106443e-13 |
| HCC | FUBP1 | exon_skip_279836 | 4.808665e-01 | 7.420999e-17 |
| HCC | RBM45 | exon_skip_279836 | 4.434387e-01 | 2.737880e-14 |
| HCC | PTBP1 | exon_skip_279836 | 6.502249e-01 | 1.782945e-33 |
| HCC | HNRNPF | exon_skip_279836 | 5.890440e-01 | 2.483923e-26 |
| HCC | RBM6 | exon_skip_214209 | 6.358078e-01 | 3.263653e-32 |
| HCC | SRSF11 | exon_skip_214209 | 5.230697e-01 | 1.666233e-20 |
| HCC | CNOT4 | exon_skip_214209 | 4.298677e-01 | 1.167872e-13 |
| HCC | TIA1 | exon_skip_214209 | 4.998877e-01 | 1.331579e-18 |
| HCC | TRNAU1AP | exon_skip_214209 | 4.273168e-01 | 1.686291e-13 |
| HCC | PCBP1 | exon_skip_214209 | 4.480063e-01 | 7.826161e-15 |
| HCC | ANKHD1 | exon_skip_214209 | 4.844088e-01 | 2.072752e-17 |
| HCC | FUBP1 | exon_skip_214209 | 5.000724e-01 | 1.287562e-18 |
| HCC | RBM45 | exon_skip_214209 | 4.965287e-01 | 2.444711e-18 |
| HCC | PTBP1 | exon_skip_214209 | 7.063808e-01 | 2.071950e-42 |
| HCC | HNRNPF | exon_skip_214209 | 6.458271e-01 | 1.696165e-33 |
| HCC | RBM6 | exon_skip_50564 | 4.537698e-01 | 2.850079e-15 |
| HCC | RALYL | exon_skip_289230 | -4.088605e-01 | 2.197776e-12 |
| IFG | RBM6 | exon_skip_41778 | -6.056095e-01 | 8.156403e-04 |
| IFG | CNOT4 | exon_skip_41778 | -5.298830e-01 | 4.473267e-03 |
| IFG | PCBP2 | exon_skip_41778 | -4.365167e-01 | 2.282010e-02 |
| IFG | RC3H1 | exon_skip_41778 | -5.045214e-01 | 7.281771e-03 |
| IFG | SRSF5 | exon_skip_279836 | -4.553770e-01 | 3.804190e-02 |
| IFG | HNRNPL | exon_skip_214209 | -4.528311e-01 | 3.926922e-02 |
| IFG | SRSF5 | exon_skip_214209 | -4.944707e-01 | 2.268932e-02 |
| IFG | IGF2BP2 | exon_skip_50564 | 4.097540e-01 | 3.035238e-02 |
| PCC | ELAVL4 | exon_skip_279836 | -4.323170e-01 | 8.646687e-11 |
| PCC | PTBP1 | exon_skip_279836 | 5.663192e-01 | 7.216450e-19 |
| PCC | HNRNPF | exon_skip_279836 | 4.067001e-01 | 1.311561e-09 |
| PCC | ELAVL4 | exon_skip_214209 | -4.379405e-01 | 4.138207e-11 |
| PCC | RBM6 | exon_skip_214209 | 4.530034e-01 | 7.201189e-12 |
| PCC | PTBP1 | exon_skip_214209 | 6.123094e-01 | 1.092285e-22 |
| PCC | HNRNPF | exon_skip_214209 | 4.762451e-01 | 4.075650e-13 |
| PCC | RALYL | exon_skip_62573 | -4.434411e-01 | 2.468131e-11 |
| PCC | RALYL | exon_skip_50564 | -4.236871e-01 | 1.336508e-10 |
| PCC | HNRNPK | exon_skip_289230 | -4.079584e-01 | 8.718952e-10 |
| PCC | RALYL | exon_skip_289230 | -4.661057e-01 | 1.141523e-12 |
| TC | RALYL | exon_skip_221588 | -4.205603e-01 | 9.288709e-08 |
| TC | ELAVL4 | exon_skip_124749 | -4.025263e-01 | 2.996794e-07 |
| TC | RALYL | exon_skip_124749 | -4.658868e-01 | 1.658358e-09 |
| TC | RALYL | exon_skip_194858 | -5.921339e-01 | 1.055672e-12 |
| TC | SRSF2 | exon_skip_124036 | -4.711229e-01 | 1.168405e-09 |
| TC | ELAVL4 | exon_skip_124036 | -6.811998e-01 | 8.624348e-22 |
| TC | ILF2 | exon_skip_124036 | -4.925767e-01 | 1.526547e-10 |
| TC | RBM45 | exon_skip_124036 | -4.217220e-01 | 7.672817e-08 |
| TC | RALYL | exon_skip_124036 | -7.347466e-01 | 1.004345e-26 |
| TC | PTBP1 | exon_skip_124036 | 4.998773e-01 | 7.390980e-11 |
| TC | HNRNPL | exon_skip_124036 | -4.073339e-01 | 2.301169e-07 |
| TC | SRSF5 | exon_skip_124036 | -4.131950e-01 | 1.480235e-07 |
| TC | SRSF2 | exon_skip_74765 | -4.391619e-01 | 1.691412e-08 |
| TC | ELAVL4 | exon_skip_74765 | -7.321855e-01 | 1.248715e-26 |
| TC | ILF2 | exon_skip_74765 | -5.078023e-01 | 2.831775e-11 |
| TC | RBM45 | exon_skip_74765 | -4.053130e-01 | 2.436862e-07 |
| TC | RALYL | exon_skip_74765 | -7.876169e-01 | 3.814606e-33 |
| TC | PTBP1 | exon_skip_74765 | 5.526128e-01 | 1.888048e-13 |
| TC | HNRNPL | exon_skip_74765 | -4.023195e-01 | 3.042911e-07 |
| TC | RBM6 | exon_skip_189799 | 4.244246e-01 | 5.056338e-08 |
| TC | RALYL | exon_skip_189799 | -5.755188e-01 | 8.783627e-15 |
| TC | RALYL | exon_skip_267982 | -5.630499e-01 | 1.116397e-14 |
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RelatedDrugs for ABI1 |
| 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 ABI1 |
| 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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