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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 ATG9A |
Gene summary |
Gene information | Gene symbol | ATG9A | Gene ID | 79065 |
Gene name | autophagy related 9A | |
Synonyms | APG9L1|MGD3208|mATG9 | |
Cytomap | 2q35 | |
Type of gene | protein-coding | |
Description | autophagy-related protein 9AAPG9 autophagy 9-like 1APG9-like 1ATG9 autophagy related 9 homolog Aautophagy 9-like 1 protein | |
Modification date | 20200329 | |
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 ATG9A |
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 | DOWN | ENST00000409033.7 | ATG9A-203:nonsense_mediated_decay:ATG9A | 2.035982e+02 | -9.238202e-01 | 2.028211e-10 | 1.149194e-08 |
CB | UP | ENST00000432520.5 | ATG9A-210:protein_coding:ATG9A | 3.671977e+01 | 8.412768e-01 | 1.300223e-08 | 3.765648e-07 |
CB | UP | ENST00000409422.5 | ATG9A-204:protein_coding:ATG9A | 4.154628e+01 | 1.230771e+00 | 3.684143e-04 | 2.227901e-03 |
CB | UP | ENST00000431715.5 | ATG9A-209:protein_coding:ATG9A | 1.196746e+00 | 1.415894e+00 | 6.980321e-03 | 2.588272e-02 |
CB | UP | ENST00000412355.5 | ATG9A-206:nonsense_mediated_decay:ATG9A | 1.332018e+00 | 1.462859e+00 | 1.122418e-02 | 3.822177e-02 |
TC | DOWN | ENST00000409033.7 | ATG9A-203:nonsense_mediated_decay:ATG9A | 1.297528e+02 | -1.492565e+00 | 2.671662e-08 | 2.048314e-06 |
TC | UP | ENST00000396761.6 | ATG9A-202:protein_coding:ATG9A | 5.266994e+02 | 8.241051e-01 | 1.065873e-05 | 2.717293e-04 |
TC | UP | ENST00000409422.5 | ATG9A-204:protein_coding:ATG9A | 2.374706e+00 | 1.629834e+00 | 4.092103e-03 | 2.880437e-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 ATG9A |
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_104116 | chr2 | 219227922:219228053:219228434:219228482:219229535:219229594 | 219228434:219228482 |
exon_skip_114700 | chr2 | 219227924:219228053:219228434:219228485:219229010:219229174 | 219228434:219228485 |
exon_skip_118477 | chr2 | 219227770:219227813:219227922:219228079:219228434:219228482 | 219227922:219228079 |
exon_skip_143305 | chr2 | 219227770:219227813:219227922:219228079:219228434:219228485 | 219227922:219228079 |
exon_skip_16872 | chr2 | 219228434:219228485:219229010:219229174:219229535:219229594 | 219229010:219229174 |
exon_skip_18904 | chr2 | 219227924:219228053:219228434:219228482:219229535:219229594 | 219228434:219228482 |
exon_skip_190317 | chr2 | 219227924:219228053:219228424:219228485:219229535:219229594 | 219228424:219228485 |
exon_skip_213645 | chr2 | 219227922:219228053:219228424:219228485:219229535:219229594 | 219228424:219228485 |
exon_skip_231467 | chr2 | 219227770:219227813:219227922:219228053:219228434:219228482 | 219227922:219228053 |
exon_skip_294640 | chr2 | 219227924:219228053:219228434:219228482:219229010:219229174 | 219228434:219228482 |
exon_skip_34141 | chr2 | 219227922:219228053:219228434:219228482:219229010:219229174 | 219228434:219228482 |
exon_skip_58711 | chr2 | 219227770:219227813:219227922:219228053:219229535:219229594 | 219227922:219228053 |
exon_skip_60036 | chr2 | 219227924:219228053:219228434:219228485:219229535:219229594 | 219228434:219228485 |
exon_skip_844 | chr2 | 219227922:219228053:219228434:219228485:219229535:219229594 | 219228434:219228485 |
exon_skip_99759 | chr2 | 219227922:219228053:219228434:219228485:219229010:219229174 | 219228434:219228485 |
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_34141 | ROSMAP_HCC | 5.897744e-01 | 6.957534e-01 | -1.059790e-01 | 3.154085e-02 |
exon_skip_844 | MSBB_IFG | 6.226667e-01 | 8.030000e-01 | -1.803333e-01 | 3.228745e-02 |
exon_skip_114700 | Mayo_CB | 4.675610e-01 | 6.205882e-01 | -1.530273e-01 | 4.783753e-08 |
exon_skip_60036 | Mayo_CB | 3.164634e-01 | 4.702857e-01 | -1.538223e-01 | 6.125338e-08 |
exon_skip_104116 | Mayo_TC | 2.335897e-01 | 3.421053e-01 | -1.085155e-01 | 1.987418e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ATG9A |
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 |
ENST00000361242 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000396761 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000409618 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000361242 | 219228434 | 219228485 | 3UTR-3UTR |
ENST00000409618 | 219228434 | 219228485 | 3UTR-3UTR |
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 |
ENST00000361242 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000409618 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000361242 | 219228434 | 219228485 | 3UTR-3UTR |
ENST00000409618 | 219228434 | 219228485 | 3UTR-3UTR |
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 |
ENST00000361242 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000396761 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000409618 | 219227922 | 219228053 | 3UTR-3CDS |
ENST00000361242 | 219228434 | 219228485 | 3UTR-3UTR |
ENST00000409618 | 219228434 | 219228485 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for ATG9A |
p-ENSG00000198925_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 ATG9A |
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 ATG9A |
- 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 ATG9A |
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 ATG9A |
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 ATG9A |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TARDBP | exon_skip_50027 | -4.254363e-01 | 1.307354e-07 |
CB | ZNF638 | exon_skip_50027 | -4.530203e-01 | 1.506072e-08 |
CB | RBM6 | exon_skip_50027 | -4.463280e-01 | 2.589787e-08 |
CB | FXR2 | exon_skip_50027 | -4.338560e-01 | 6.897647e-08 |
CB | PCBP1 | exon_skip_50027 | -4.797022e-01 | 1.539121e-09 |
CB | PCBP4 | exon_skip_50027 | 4.325452e-01 | 7.628368e-08 |
CB | HNRNPA2B1 | exon_skip_50027 | -5.163031e-01 | 4.811734e-11 |
CB | RBM4B | exon_skip_50027 | -5.699057e-01 | 1.338933e-13 |
CB | PCBP4 | exon_skip_105883 | 4.107512e-01 | 3.161278e-07 |
HCC | RBM5 | exon_skip_104116 | -4.064748e-01 | 4.799370e-12 |
IFG | SRSF11 | exon_skip_844 | -4.495383e-01 | 2.416418e-02 |
IFG | RBM5 | exon_skip_844 | -6.113258e-01 | 1.167736e-03 |
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RelatedDrugs for ATG9A |
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 ATG9A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |