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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for AP2A2

check button Gene summary
Gene informationGene symbol

AP2A2

Gene ID

161

Gene nameadaptor related protein complex 2 subunit alpha 2
SynonymsADTAB|CLAPA2|HIP-9|HIP9|HYPJ
Cytomap

11p15.5

Type of geneprotein-coding
DescriptionAP-2 complex subunit alpha-2100 kDa coated vesicle protein Cadapter-related protein complex 2 subunit alpha-2adaptin, alpha Badaptor related protein complex 2 alpha 2 subunitalpha-adaptin C; Huntingtin interacting protein Jalpha2-adaptinclathrin as
Modification date20180522
UniProtAcc

O94973

ContextPubMed: AP2A2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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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Exon skipping events across known transcript of Ensembl for AP2A2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for AP2A2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for AP2A2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5583711925944:926088:956785:956982:959436:959505956785:956982ENSG00000183020.9ENST00000529858.1
exon_skip_5584111959436:959505:970168:970311:972061:972191970168:970311ENSG00000183020.9ENST00000534328.1,ENST00000524559.1,ENST00000332231.5,ENST00000531548.1,ENST00000534485.1,ENST00000529818.1,ENST00000528815.1,ENST00000448903.2,ENST00000526753.1,ENST00000530801.1,ENST00000527024.1
exon_skip_5584411970168:970311:972061:972255:977094:977120972061:972255ENSG00000183020.9ENST00000534328.1,ENST00000524559.1,ENST00000332231.5,ENST00000531548.1,ENST00000534485.1,ENST00000529818.1,ENST00000528815.1,ENST00000448903.2
exon_skip_5584511972217:972255:977094:977224:981197:981299977094:977224ENSG00000183020.9ENST00000534328.1,ENST00000332231.5,ENST00000525796.1,ENST00000528815.1,ENST00000448903.2
exon_skip_5584711977094:977224:981197:981299:984644:984753981197:981299ENSG00000183020.9ENST00000534328.1,ENST00000332231.5,ENST00000525796.1,ENST00000528815.1,ENST00000448903.2
exon_skip_5585011992502:992685:993283:993381:993753:993985993283:993381ENSG00000183020.9ENST00000332231.5,ENST00000528815.1,ENST00000448903.2
exon_skip_5585311994071:994245:1000431:1000598:1003721:10038041000431:1000598ENSG00000183020.9ENST00000332231.5,ENST00000448903.2
exon_skip_5585411994071:994245:1003721:1003804:1006527:10066171003721:1003804ENSG00000183020.9ENST00000528815.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for AP2A2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5583711925944:926088:956785:956982:959436:959505956785:956982ENSG00000183020.9ENST00000529858.1
exon_skip_5584111959436:959505:970168:970311:972061:972191970168:970311ENSG00000183020.9ENST00000529818.1,ENST00000534328.1,ENST00000448903.2,ENST00000332231.5,ENST00000528815.1,ENST00000531548.1,ENST00000534485.1,ENST00000527024.1,ENST00000526753.1,ENST00000530801.1,ENST00000524559.1
exon_skip_5584411970168:970311:972061:972255:977094:977120972061:972255ENSG00000183020.9ENST00000529818.1,ENST00000534328.1,ENST00000448903.2,ENST00000332231.5,ENST00000528815.1,ENST00000531548.1,ENST00000534485.1,ENST00000524559.1
exon_skip_5584511972217:972255:977094:977224:981197:981299977094:977224ENSG00000183020.9ENST00000525796.1,ENST00000534328.1,ENST00000448903.2,ENST00000332231.5,ENST00000528815.1
exon_skip_5584711977094:977224:981197:981299:984644:984753981197:981299ENSG00000183020.9ENST00000525796.1,ENST00000534328.1,ENST00000448903.2,ENST00000332231.5,ENST00000528815.1
exon_skip_5585011992502:992685:993283:993381:993753:993985993283:993381ENSG00000183020.9ENST00000448903.2,ENST00000332231.5,ENST00000528815.1
exon_skip_5585311994071:994245:1000431:1000598:1003721:10038041000431:1000598ENSG00000183020.9ENST00000448903.2,ENST00000332231.5
exon_skip_5585411994071:994245:1003721:1003804:1006527:10066171003721:1003804ENSG00000183020.9ENST00000528815.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for AP2A2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for AP2A2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA 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 GTEx 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 TCGA.
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 GTEx.
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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SNVs in the skipped exons for AP2A2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
AP2A2_COAD_exon_skip_55853_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-AU-6004-01exon_skip_55853
1000432100059810004751000475Frame_Shift_DelC-p.A668fs
COADTCGA-AZ-4615-01exon_skip_55841
970169970311970195970195Frame_Shift_DelA-p.S54fs
KICHTCGA-KO-8408-01exon_skip_55841
970169970311970195970195Frame_Shift_DelA-p.K55fs
LIHCTCGA-DD-A1EG-01exon_skip_55845
977095977224977157977157Frame_Shift_DelC-p.S179fs
LIHCTCGA-DD-A3A0-01exon_skip_55845
977095977224977157977157Frame_Shift_DelC-p.S179fs
LIHCTCGA-DD-A3A0-01exon_skip_55847
981198981299981261981261Frame_Shift_DelA-p.K223fs
ESCATCGA-L5-A8NQ-01exon_skip_55841
970169970311970255970255Nonsense_MutationGTp.G75X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
AP2A2_994071_994245_1000431_1000598_1003721_1003804_TCGA-AU-6004-01Sample: TCGA-AU-6004-01
Cancer type: COAD
ESID: exon_skip_55853
Skipped exon start: 1000432
Skipped exon end: 1000598
Mutation start: 1000475
Mutation end: 1000475
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A668fs
exon_skip_121002_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_137953_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_300676_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_336630_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_422717_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_434040_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_454598_COAD_TCGA-AU-6004-01.png
boxplot
exon_skip_55853_COAD_TCGA-AU-6004-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
2313287_STOMACH1000432100059810004751000475Frame_Shift_DelC-p.A667fs
CAL51_BREAST1000432100059810004751000475Frame_Shift_DelC-p.A667fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1000432100059810004751000475Frame_Shift_DelC-p.A667fs
GP5D_LARGE_INTESTINE1000432100059810004751000475Frame_Shift_DelC-p.A667fs
GP2D_LARGE_INTESTINE1000432100059810004751000475Frame_Shift_DelC-p.A667fs
HEC6_ENDOMETRIUM1000432100059810004751000475Frame_Shift_DelC-p.A667fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM1000432100059810004751000475Frame_Shift_DelC-p.A667fs
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE970169970311970195970195Frame_Shift_DelA-p.K57fs
SW48_LARGE_INTESTINE970169970311970195970195Frame_Shift_DelA-p.K57fs
EFO27_OVARY970169970311970195970195Frame_Shift_DelA-p.K57fs
SNU407_LARGE_INTESTINE977095977224977157977157Frame_Shift_DelC-p.S179fs
ONS76_CENTRAL_NERVOUS_SYSTEM1000432100059810004721000480In_Frame_DelCTGCCCCCC-p.APP667del
PRECLH_PROSTATE1000432100059810004481000448Missense_MutationCTp.S658L
SNU61_LARGE_INTESTINE1000432100059810004751000475Missense_MutationCTp.A667V
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1000432100059810004811000481Missense_MutationCTp.P669L
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1000432100059810005771000577Missense_MutationGCp.G701A
MFE319_ENDOMETRIUM1003722100380410037601003760Missense_MutationAGp.Q721R
K2_SKIN1003722100380410037711003771Missense_MutationAGp.I725V
SNU1040_LARGE_INTESTINE1003722100380410037751003775Missense_MutationGAp.G726E
HCT116_LARGE_INTESTINE970169970311970232970232Missense_MutationTCp.L67P
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972080972080Missense_MutationGAp.V100M
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972105972105Missense_MutationTCp.L108P
MFHINO_SOFT_TISSUE972062972255972114972114Missense_MutationTGp.L111R
DETROIT562_UPPER_AERODIGESTIVE_TRACT972062972255972152972152Missense_MutationAGp.N124D
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972167972167Missense_MutationGTp.G129C
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972192972192Missense_MutationGAp.S137N
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972194972194Missense_MutationGAp.V138M
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE972062972255972227972227Missense_MutationGAp.G149R
SW684_SOFT_TISSUE972062972255972236972236Missense_MutationCTp.P152S
SNU668_STOMACH977095977224977102977102Missense_MutationAGp.M161V
VMRCLCD_LUNG977095977224977125977126Missense_MutationGGCTp.A169S
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE977095977224977180977180Missense_MutationGAp.D187N
HEC50B_ENDOMETRIUM981198981299981217981217Missense_MutationCGp.T208R
SNGM_ENDOMETRIUM993284993381993369993369Missense_MutationAGp.D513G
AGS_STOMACH993284993381993372993372Missense_MutationCTp.P514L
NCIH2373_PLEURA993284993381993372993372Missense_MutationCTp.P514L
MDAMB453_BREAST1003722100380410037681003768Nonsense_MutationCTp.Q724*
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE970169970311970311970311Splice_SiteCTp.I93I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP2A2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP2A2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP2A2


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RelatedDrugs for AP2A2

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

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RelatedDiseases for AP2A2

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