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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 GABARAPL1 |
 Gene summary |
| Gene information | Gene symbol | GABARAPL1 | Gene ID | 23710 |
| Gene name | GABA type A receptor associated protein like 1 | |
| Synonyms | APG8-LIKE|APG8L|ATG8|ATG8B|ATG8L|GEC1 | |
| Cytomap | 12p13.2 | |
| Type of gene | protein-coding | |
| Description | gamma-aminobutyric acid receptor-associated protein-like 1GABA(A) receptor-associated protein-like 1early estrogen-regulated proteinglandular epithelial cell 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 |
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Gene structures and expression levels for GABARAPL1 |
| 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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ENSG00000139112
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| DLPFC | DOWN | ENST00000629504.1 | GABARAPL1-219:protein_coding:GABARAPL1 | 3.312482e+01 | -8.591457e-01 | 1.553253e-05 | 1.958544e-03 |
| PG | UP | ENST00000539170.5 | GABARAPL1-205:protein_coding:GABARAPL1 | 2.797562e+01 | 2.732847e+00 | 3.259463e-04 | 6.513251e-03 |
| CB | DOWN | ENST00000539170.5 | GABARAPL1-205:protein_coding:GABARAPL1 | 6.822616e+02 | -1.788137e+00 | 2.295334e-03 | 1.033168e-02 |
| TC | DOWN | ENST00000539170.5 | GABARAPL1-205:protein_coding:GABARAPL1 | 9.087743e+02 | -1.129201e+00 | 2.748316e-03 | 2.133691e-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 GABARAPL1 |
| 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_100642 | chr12 | 10213429:10213714:10213836:10213974:10214074:10214187 | 10213836:10213974 |
| exon_skip_104847 | chr12 | 10213142:10213219:10218063:10218141:10220440:10220481 | 10218063:10218141 |
| exon_skip_110045 | chr12 | 10213142:10213219:10213836:10213974:10214074:10214123 | 10213836:10213974 |
| exon_skip_111905 | chr12 | 10214074:10214187:10218063:10218141:10220440:10220481 | 10218063:10218141 |
| exon_skip_137303 | chr12 | 10214083:10214187:10214669:10214779:10218063:10218141 | 10214669:10214779 |
| exon_skip_156516 | chr12 | 10213440:10213714:10214074:10214187:10218063:10218141 | 10214074:10214187 |
| exon_skip_172468 | chr12 | 10212945:10213219:10213836:10214187:10214669:10214689 | 10213836:10214187 |
| exon_skip_193538 | chr12 | 10213429:10213714:10214074:10214187:10218063:10218141 | 10214074:10214187 |
| exon_skip_208896 | chr12 | 10213179:10213219:10218063:10218141:10220440:10220481 | 10218063:10218141 |
| exon_skip_251788 | chr12 | 10213179:10213219:10213836:10214187:10218063:10218141 | 10213836:10214187 |
| exon_skip_254179 | chr12 | 10213836:10213974:10214074:10214187:10218063:10218141 | 10214074:10214187 |
| exon_skip_279317 | chr12 | 10212945:10213219:10213836:10214187:10218063:10218141 | 10213836:10214187 |
| exon_skip_28134 | chr12 | 10213142:10213219:10213836:10214187:10218063:10218141 | 10213836:10214187 |
| exon_skip_32498 | chr12 | 10213142:10213219:10213836:10214187:10214669:10214689 | 10213836:10214187 |
| exon_skip_47760 | chr12 | 10214074:10214187:10214669:10214779:10218063:10218141 | 10214669:10214779 |
| exon_skip_93617 | chr12 | 10213440:10213714:10213836:10213974:10214074:10214123 | 10213836:10213974 |
| 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 GABARAPL1 |
| 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 |
| ENST00000266458 | 10218063 | 10218141 | Frame-shift |
| ENST00000545887 | 10218063 | 10218141 | 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 |
| ENST00000266458 | 10218063 | 10218141 | Frame-shift |
| ENST00000545887 | 10218063 | 10218141 | 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 |
| ENST00000266458 | 10218063 | 10218141 | Frame-shift |
| ENST00000545887 | 10218063 | 10218141 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GABARAPL1 |
p-ENSG00000139112_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GABARAPL1 |
| 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 GABARAPL1 |
| - 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 GABARAPL1 |
| 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 |
| CDR | MSBB | STG | exon_skip_104847 | 3.422616e-01 | 7.849870e-04 | chr12 | + | 10213142 | 10213219 | 10218063 | 10218141 | 10220440 | 10220481 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GABARAPL1 |
| 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 GABARAPL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | PTBP3 | exon_skip_47760 | -5.631292e-01 | 5.145321e-03 |
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RelatedDrugs for GABARAPL1 |
| 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 GABARAPL1 |
| 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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