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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ATG9A

check button Gene summary
Gene informationGene symbol

ATG9A

Gene ID

79065

Gene nameautophagy related 9A
SynonymsAPG9L1|MGD3208|mATG9
Cytomap

2q35

Type of geneprotein-coding
Descriptionautophagy-related protein 9AAPG9 autophagy 9-like 1APG9-like 1ATG9 autophagy related 9 homolog Aautophagy 9-like 1 protein
Modification date20200329
UniProtAcc

A0A024R438,

C9IYZ9,

C9JD65,

C9JDK4,

C9JFV2,

C9JKV7,

C9JS65,

C9JX27,

C9JXG2,

F2Z3I6,

H7C1G6,

Q7Z3C6,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Gene structures and expression levels for ATG9A

check buttonSkipped 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.
all structure

ENSG00000198925
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000409033.7ATG9A-203:nonsense_mediated_decay:ATG9A2.035982e+02-9.238202e-012.028211e-101.149194e-08
CBUPENST00000432520.5ATG9A-210:protein_coding:ATG9A3.671977e+018.412768e-011.300223e-083.765648e-07
CBUPENST00000409422.5ATG9A-204:protein_coding:ATG9A4.154628e+011.230771e+003.684143e-042.227901e-03
CBUPENST00000431715.5ATG9A-209:protein_coding:ATG9A1.196746e+001.415894e+006.980321e-032.588272e-02
CBUPENST00000412355.5ATG9A-206:nonsense_mediated_decay:ATG9A1.332018e+001.462859e+001.122418e-023.822177e-02
TCDOWNENST00000409033.7ATG9A-203:nonsense_mediated_decay:ATG9A1.297528e+02-1.492565e+002.671662e-082.048314e-06
TCUPENST00000396761.6ATG9A-202:protein_coding:ATG9A5.266994e+028.241051e-011.065873e-052.717293e-04
TCUPENST00000409422.5ATG9A-204:protein_coding:ATG9A2.374706e+001.629834e+004.092103e-032.880437e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATG9A

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_104116chr2219227922:219228053:219228434:219228482:219229535:219229594219228434:219228482
exon_skip_114700chr2219227924:219228053:219228434:219228485:219229010:219229174219228434:219228485
exon_skip_118477chr2219227770:219227813:219227922:219228079:219228434:219228482219227922:219228079
exon_skip_143305chr2219227770:219227813:219227922:219228079:219228434:219228485219227922:219228079
exon_skip_16872chr2219228434:219228485:219229010:219229174:219229535:219229594219229010:219229174
exon_skip_18904chr2219227924:219228053:219228434:219228482:219229535:219229594219228434:219228482
exon_skip_190317chr2219227924:219228053:219228424:219228485:219229535:219229594219228424:219228485
exon_skip_213645chr2219227922:219228053:219228424:219228485:219229535:219229594219228424:219228485
exon_skip_231467chr2219227770:219227813:219227922:219228053:219228434:219228482219227922:219228053
exon_skip_294640chr2219227924:219228053:219228434:219228482:219229010:219229174219228434:219228482
exon_skip_34141chr2219227922:219228053:219228434:219228482:219229010:219229174219228434:219228482
exon_skip_58711chr2219227770:219227813:219227922:219228053:219229535:219229594219227922:219228053
exon_skip_60036chr2219227924:219228053:219228434:219228485:219229535:219229594219228434:219228485
exon_skip_844chr2219227922:219228053:219228434:219228485:219229535:219229594219228434:219228485
exon_skip_99759chr2219227922:219228053:219228434:219228485:219229010:219229174219228434:219228485

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_34141ROSMAP_HCC5.897744e-016.957534e-01-1.059790e-013.154085e-02
exon_skip_844MSBB_IFG6.226667e-018.030000e-01-1.803333e-013.228745e-02
exon_skip_114700Mayo_CB4.675610e-016.205882e-01-1.530273e-014.783753e-08
exon_skip_60036Mayo_CB3.164634e-014.702857e-01-1.538223e-016.125338e-08
exon_skip_104116Mayo_TC2.335897e-013.421053e-01-1.085155e-011.987418e-06


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Open reading frame (ORF) annotation in the exon skipping event for ATG9A

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003612422192279222192280533UTR-3CDS
ENST000003967612192279222192280533UTR-3CDS
ENST000004096182192279222192280533UTR-3CDS
ENST000003612422192284342192284853UTR-3UTR
ENST000004096182192284342192284853UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003612422192279222192280533UTR-3CDS
ENST000004096182192279222192280533UTR-3CDS
ENST000003612422192284342192284853UTR-3UTR
ENST000004096182192284342192284853UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003612422192279222192280533UTR-3CDS
ENST000003967612192279222192280533UTR-3CDS
ENST000004096182192279222192280533UTR-3CDS
ENST000003612422192284342192284853UTR-3UTR
ENST000004096182192284342192284853UTR-3UTR

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Infer the effects of exon skipping event on protein functional features for ATG9A

p-ENSG00000198925_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature

check button 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 featureDescription of feature

check button 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 featureDescription of feature


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3'-UTR located exon skipping events that lost miRNA binding sites in ATG9A

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ATG9A

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ATG9A

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATG9A

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for ATG9A

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_50027-4.254363e-011.307354e-07
CBZNF638exon_skip_50027-4.530203e-011.506072e-08
CBRBM6exon_skip_50027-4.463280e-012.589787e-08
CBFXR2exon_skip_50027-4.338560e-016.897647e-08
CBPCBP1exon_skip_50027-4.797022e-011.539121e-09
CBPCBP4exon_skip_500274.325452e-017.628368e-08
CBHNRNPA2B1exon_skip_50027-5.163031e-014.811734e-11
CBRBM4Bexon_skip_50027-5.699057e-011.338933e-13
CBPCBP4exon_skip_1058834.107512e-013.161278e-07
HCCRBM5exon_skip_104116-4.064748e-014.799370e-12
IFGSRSF11exon_skip_844-4.495383e-012.416418e-02
IFGRBM5exon_skip_844-6.113258e-011.167736e-03

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RelatedDrugs for ATG9A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ATG9A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource