|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ATG13 |
Gene summary |
Gene information | Gene symbol | ATG13 | Gene ID | 9776 |
Gene name | autophagy related 13 | |
Synonyms | KIAA0652|PARATARG8 | |
Cytomap | 11p11.2 | |
Type of gene | protein-coding | |
Description | autophagy-related protein 13ATG13 autophagy related 13 homolog | |
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 |
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Gene structures and expression levels for ATG13 |
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. |
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 |
CB | UP | ENST00000581438.5 | ATG13-228:protein_coding:ATG13 | 1.973416e+00 | 9.239452e-01 | 3.674222e-03 | 1.524798e-02 |
CB | DOWN | ENST00000526485.1 | ATG13-206:lncRNA:ATG13 | 1.626140e+00 | -2.597314e+00 | 5.176877e-03 | 2.024960e-02 |
TC | DOWN | ENST00000526485.1 | ATG13-206:lncRNA:ATG13 | 4.033587e+00 | -2.401998e+00 | 1.072375e-03 | 1.044552e-02 |
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 ATG13 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_118410 | chr11 | 46664000:46664095:46664849:46664959:46665383:46665519 | 46664849:46664959 |
exon_skip_122595 | chr11 | 46659422:46659485:46664849:46664959:46665383:46665519 | 46664849:46664959 |
exon_skip_127333 | chr11 | 46617791:46617890:46618260:46618375:46621042:46621157 | 46618260:46618375 |
exon_skip_13246 | chr11 | 46630045:46630100:46630897:46630991:46644279:46644331 | 46630897:46630991 |
exon_skip_13467 | chr11 | 46617791:46617890:46618260:46618375:46629907:46630022 | 46618260:46618375 |
exon_skip_149848 | chr11 | 46659451:46659485:46664849:46664959:46665383:46665519 | 46664849:46664959 |
exon_skip_16695 | chr11 | 46630045:46630100:46632323:46632459:46644279:46644331 | 46632323:46632459 |
exon_skip_205101 | chr11 | 46621042:46621157:46630045:46630100:46644279:46644331 | 46630045:46630100 |
exon_skip_231372 | chr11 | 46617791:46617890:46644279:46644360:46645339:46645350 | 46644279:46644360 |
exon_skip_241530 | chr11 | 46618325:46618375:46621042:46621157:46644279:46644331 | 46621042:46621157 |
exon_skip_24408 | chr11 | 46618325:46618375:46621060:46621157:46644279:46644331 | 46621060:46621157 |
exon_skip_250513 | chr11 | 46657095:46657191:46657524:46657622:46659392:46659402 | 46657524:46657622 |
exon_skip_261641 | chr11 | 46617791:46617890:46618325:46618375:46630045:46630100 | 46618325:46618375 |
exon_skip_264197 | chr11 | 46659422:46659485:46663997:46664095:46664849:46664959 | 46663997:46664095 |
exon_skip_264842 | chr11 | 46617791:46617890:46618260:46618375:46644279:46644331 | 46618260:46618375 |
exon_skip_265313 | chr11 | 46617791:46617890:46618325:46618375:46644279:46644331 | 46618325:46618375 |
exon_skip_26615 | chr11 | 46659422:46659485:46665383:46665519:46667773:46667790 | 46665383:46665519 |
exon_skip_266841 | chr11 | 46621060:46621157:46630045:46630100:46644279:46644331 | 46630045:46630100 |
exon_skip_268116 | chr11 | 46617791:46617890:46630045:46630100:46644279:46644331 | 46630045:46630100 |
exon_skip_274066 | chr11 | 46617791:46617890:46618325:46618375:46621042:46621157 | 46618325:46618375 |
exon_skip_280483 | chr11 | 46659451:46659485:46663997:46664095:46664849:46664959 | 46663997:46664095 |
exon_skip_28281 | chr11 | 46618325:46618375:46630045:46630100:46644279:46644331 | 46630045:46630100 |
exon_skip_289165 | chr11 | 46618325:46618375:46644279:46644360:46645339:46645350 | 46644279:46644360 |
exon_skip_31743 | chr11 | 46665509:46665519:46667773:46667887:46668499:46668576 | 46667773:46667887 |
exon_skip_38099 | chr11 | 46617563:46617890:46644279:46644360:46645339:46645419 | 46644279:46644360 |
exon_skip_38163 | chr11 | 46668499:46668576:46668794:46668910:46669404:46669441 | 46668794:46668910 |
exon_skip_40566 | chr11 | 46617791:46617890:46618260:46618375:46630045:46630100 | 46618260:46618375 |
exon_skip_68451 | chr11 | 46617791:46617890:46621042:46621157:46644279:46644331 | 46621042:46621157 |
exon_skip_85857 | chr11 | 46630045:46630100:46632323:46632459:46644279:46644360 | 46632323:46632459 |
exon_skip_86745 | chr11 | 46618325:46618375:46621042:46621157:46630045:46630100 | 46621042:46621157 |
exon_skip_95640 | chr11 | 46617791:46617890:46625301:46625417:46629907:46630022 | 46625301:46625417 |
exon_skip_96871 | chr11 | 46617557:46617890:46621042:46621157:46644279:46644331 | 46621042:46621157 |
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 |
exon_skip_36586 | Mayo_TC | 4.926829e-01 | 5.958442e-01 | -1.031612e-01 | 1.286516e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for ATG13 |
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 |
ENST00000359513 | 46644279 | 46644360 | 5CDS-5UTR |
ENST00000526508 | 46618260 | 46618375 | 5UTR-5UTR |
ENST00000359513 | 46667773 | 46667887 | Frame-shift |
ENST00000526508 | 46667773 | 46667887 | Frame-shift |
ENST00000359513 | 46657524 | 46657622 | In-frame |
ENST00000526508 | 46657524 | 46657622 | In-frame |
ENST00000359513 | 46664849 | 46664959 | In-frame |
ENST00000526508 | 46664849 | 46664959 | In-frame |
ENST00000359513 | 46668794 | 46668910 | In-frame |
ENST00000526508 | 46668794 | 46668910 | 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 |
ENST00000526508 | 46618260 | 46618375 | 5UTR-5UTR |
ENST00000359513 | 46667773 | 46667887 | Frame-shift |
ENST00000526508 | 46667773 | 46667887 | Frame-shift |
ENST00000359513 | 46664849 | 46664959 | In-frame |
ENST00000526508 | 46664849 | 46664959 | In-frame |
ENST00000359513 | 46668794 | 46668910 | In-frame |
ENST00000526508 | 46668794 | 46668910 | 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 |
ENST00000359513 | 46644279 | 46644360 | 5CDS-5UTR |
ENST00000526508 | 46644279 | 46644360 | 5CDS-5UTR |
ENST00000526508 | 46618260 | 46618375 | 5UTR-5UTR |
ENST00000359513 | 46667773 | 46667887 | Frame-shift |
ENST00000526508 | 46667773 | 46667887 | Frame-shift |
ENST00000359513 | 46657524 | 46657622 | In-frame |
ENST00000526508 | 46657524 | 46657622 | In-frame |
ENST00000359513 | 46664849 | 46664959 | In-frame |
ENST00000526508 | 46664849 | 46664959 | In-frame |
ENST00000359513 | 46668794 | 46668910 | In-frame |
ENST00000526508 | 46668794 | 46668910 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATG13 |
p-ENSG00000175224_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 |
ENST00000359513 | 4365 | 517 | 46657524 | 46657622 | 906 | 1003 | 199 | 231 |
ENST00000526508 | 4216 | 517 | 46657524 | 46657622 | 1055 | 1152 | 199 | 231 |
ENST00000359513 | 4365 | 517 | 46664849 | 46664959 | 1099 | 1208 | 263 | 300 |
ENST00000526508 | 4216 | 517 | 46664849 | 46664959 | 1248 | 1357 | 263 | 300 |
ENST00000359513 | 4365 | 517 | 46668794 | 46668910 | 1540 | 1655 | 410 | 449 |
ENST00000526508 | 4216 | 517 | 46668794 | 46668910 | 1689 | 1804 | 410 | 449 |
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 |
ENST00000359513 | 4365 | 517 | 46664849 | 46664959 | 1099 | 1208 | 263 | 300 |
ENST00000526508 | 4216 | 517 | 46664849 | 46664959 | 1248 | 1357 | 263 | 300 |
ENST00000359513 | 4365 | 517 | 46668794 | 46668910 | 1540 | 1655 | 410 | 449 |
ENST00000526508 | 4216 | 517 | 46668794 | 46668910 | 1689 | 1804 | 410 | 449 |
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 |
ENST00000359513 | 4365 | 517 | 46657524 | 46657622 | 906 | 1003 | 199 | 231 |
ENST00000526508 | 4216 | 517 | 46657524 | 46657622 | 1055 | 1152 | 199 | 231 |
ENST00000359513 | 4365 | 517 | 46664849 | 46664959 | 1099 | 1208 | 263 | 300 |
ENST00000526508 | 4216 | 517 | 46664849 | 46664959 | 1248 | 1357 | 263 | 300 |
ENST00000359513 | 4365 | 517 | 46668794 | 46668910 | 1540 | 1655 | 410 | 449 |
ENST00000526508 | 4216 | 517 | 46668794 | 46668910 | 1689 | 1804 | 410 | 449 |
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 |
O75143 | 199 | 231 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 199 | 231 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
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 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
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 |
O75143 | 199 | 231 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 199 | 231 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 263 | 299 | Alternative sequence | ID=VSP_044504;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 265 | 301 | Alternative sequence | ID=VSP_002431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 263 | 300 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 428 | 442 | Alternative sequence | ID=VSP_002432;Note=In isoform 3. HSDGSSGGSSGNTHD->PCSWPLPCLLSPSTV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 443 | 517 | Alternative sequence | ID=VSP_002433;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 1 | 517 | Chain | ID=PRO_0000050767;Note=Autophagy-related protein 13 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 447 | Motif | Note=LIR;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 444 | 444 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
O75143 | 410 | 449 | 447 | 447 | Mutagenesis | Note=Decreases interaction with MAP1LC3A. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24290141;Dbxref=PMID:24290141 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATG13 |
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 ATG13 |
- 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 ATG13 |
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 ATG13 |
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 ATG13 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM23 | exon_skip_86745 | 4.199222e-01 | 3.976809e-07 |
CB | HNRNPK | exon_skip_122595 | 5.469151e-01 | 8.758145e-14 |
CB | PCBP2 | exon_skip_122595 | 4.826119e-01 | 1.178614e-10 |
CB | NUP42 | exon_skip_122595 | 5.269112e-01 | 9.707335e-13 |
CB | PTBP3 | exon_skip_122595 | 4.424384e-01 | 5.247945e-09 |
CB | NOVA1 | exon_skip_122595 | 4.203008e-01 | 3.476055e-08 |
CB | HNRNPK | exon_skip_96773 | 4.401050e-01 | 2.721995e-08 |
CB | PCBP2 | exon_skip_96773 | 4.392649e-01 | 2.912735e-08 |
CB | NOVA1 | exon_skip_96773 | 4.746592e-01 | 1.423938e-09 |
FL | PTBP1 | exon_skip_122595 | -4.325106e-01 | 5.550319e-08 |
HCC | SFPQ | exon_skip_122595 | -5.275820e-01 | 5.788651e-21 |
HCC | RBM6 | exon_skip_122595 | -5.495205e-01 | 6.111907e-23 |
HCC | PTBP1 | exon_skip_122595 | -6.430443e-01 | 2.980618e-33 |
HCC | SRSF4 | exon_skip_122595 | -4.803957e-01 | 3.615394e-17 |
IFG | IGF2BP3 | exon_skip_40566 | 4.784400e-01 | 1.001266e-02 |
IFG | HNRNPDL | exon_skip_40566 | 4.964371e-01 | 7.208827e-03 |
IFG | PABPC4 | exon_skip_40566 | 4.868428e-01 | 8.607151e-03 |
IFG | IGF2BP3 | exon_skip_261641 | 5.299783e-01 | 3.723286e-03 |
IFG | HNRNPD | exon_skip_261641 | 4.989726e-01 | 6.873121e-03 |
IFG | NUP42 | exon_skip_261641 | 4.090054e-01 | 3.068620e-02 |
IFG | CELF1 | exon_skip_261641 | 4.743365e-01 | 1.076598e-02 |
IFG | IGF2BP3 | exon_skip_265313 | 4.044402e-01 | 4.493312e-02 |
IFG | FXR2 | exon_skip_268116 | -4.606761e-01 | 1.362346e-02 |
IFG | RBM24 | exon_skip_264197 | 4.161847e-01 | 3.082867e-02 |
IFG | RALYL | exon_skip_264197 | 4.005548e-01 | 3.840984e-02 |
IFG | KHDRBS3 | exon_skip_122595 | 4.377075e-01 | 1.983514e-02 |
PCC | RBM3 | exon_skip_40566 | -4.100120e-01 | 7.739179e-10 |
PCC | PTBP1 | exon_skip_149848 | -6.059962e-01 | 1.532833e-22 |
PG | TARDBP | exon_skip_268116 | -4.732459e-01 | 5.715528e-10 |
PG | SRSF2 | exon_skip_268116 | -4.368658e-01 | 1.475216e-08 |
PG | MATR3 | exon_skip_268116 | -4.614859e-01 | 1.704695e-09 |
PG | ENOX1 | exon_skip_268116 | -4.769364e-01 | 4.021401e-10 |
PG | PCBP1 | exon_skip_122595 | 4.237286e-01 | 7.261164e-08 |
PG | HNRNPK | exon_skip_122595 | 4.629414e-01 | 2.771322e-09 |
PG | KHDRBS3 | exon_skip_122595 | 5.188711e-01 | 1.210320e-11 |
PG | RBM24 | exon_skip_122595 | 4.446913e-01 | 1.333871e-08 |
PG | HNRNPL | exon_skip_122595 | 4.238021e-01 | 7.219582e-08 |
PG | NOVA1 | exon_skip_122595 | 4.014365e-01 | 3.896079e-07 |
STG | NOVA1 | exon_skip_122595 | 4.338613e-01 | 1.958533e-04 |
TC | RBM24 | exon_skip_264197 | 6.532703e-01 | 1.032532e-20 |
TC | NUP42 | exon_skip_264197 | 4.649305e-01 | 6.658042e-10 |
TC | RALYL | exon_skip_264197 | 6.590280e-01 | 3.612771e-21 |
TC | CELF1 | exon_skip_264197 | 4.813797e-01 | 1.334061e-10 |
TC | ESRP1 | exon_skip_264197 | 4.488033e-01 | 2.970434e-09 |
TC | RBMS2 | exon_skip_36586 | -4.715644e-01 | 3.517445e-10 |
TC | ELAVL4 | exon_skip_36586 | 8.108298e-01 | 2.340401e-38 |
TC | KHDRBS3 | exon_skip_36586 | 7.067186e-01 | 2.279839e-25 |
TC | RBM24 | exon_skip_36586 | 7.035110e-01 | 4.640206e-25 |
TC | HNRNPDL | exon_skip_36586 | 4.615410e-01 | 9.176247e-10 |
TC | RBM45 | exon_skip_36586 | 5.356118e-01 | 3.476713e-13 |
TC | HNRNPD | exon_skip_36586 | 5.986189e-01 | 7.844769e-17 |
TC | NUP42 | exon_skip_36586 | 6.987228e-01 | 1.317186e-24 |
TC | RALYL | exon_skip_36586 | 8.239225e-01 | 1.455093e-40 |
TC | PTBP1 | exon_skip_36586 | -4.572831e-01 | 1.366267e-09 |
TC | PTBP3 | exon_skip_36586 | 4.284376e-01 | 1.762427e-08 |
TC | HNRNPL | exon_skip_36586 | 4.082163e-01 | 9.226016e-08 |
TC | CELF1 | exon_skip_36586 | 5.691949e-01 | 4.945334e-15 |
TC | ESRP1 | exon_skip_36586 | 6.441710e-01 | 5.185716e-20 |
TC | NOVA1 | exon_skip_36586 | 6.967489e-01 | 2.012965e-24 |
TC | HNRNPK | exon_skip_122595 | 4.416121e-01 | 5.645507e-09 |
TC | KHDRBS3 | exon_skip_122595 | 5.326988e-01 | 4.919174e-13 |
TC | RBM24 | exon_skip_122595 | 4.684904e-01 | 4.735602e-10 |
TC | NUP42 | exon_skip_122595 | 5.900604e-01 | 2.734686e-16 |
TC | PTBP1 | exon_skip_122595 | -4.476474e-01 | 3.296750e-09 |
TC | HNRNPL | exon_skip_122595 | 4.470198e-01 | 3.488107e-09 |
TC | NOVA1 | exon_skip_122595 | 7.544103e-01 | 1.657457e-30 |
TC | KHDRBS3 | exon_skip_96773 | 4.714236e-01 | 3.565898e-10 |
TC | RBM24 | exon_skip_96773 | 4.277418e-01 | 1.869129e-08 |
TC | NUP42 | exon_skip_96773 | 4.460698e-01 | 3.798321e-09 |
TC | NOVA1 | exon_skip_96773 | 5.402631e-01 | 1.983730e-13 |
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RelatedDrugs for ATG13 |
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 ATG13 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |