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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 AP1G2

check button Gene summary
Gene informationGene symbol

AP1G2

Gene ID

8906

Gene nameadaptor related protein complex 1 subunit gamma 2
SynonymsG2AD
Cytomap

14q11.2

Type of geneprotein-coding
DescriptionAP-1 complex subunit gamma-like 2adaptor related protein complex 1 gamma 2 subunitclathrin-associated/assembly/adaptor protein, large, gamma-2gamma2-adaptin
Modification date20180519
UniProtAcc

O75843

ContextPubMed: AP1G2 [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 AP1G2 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 AP1G2

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 AP1G2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1117821424028897:24029059:24029146:24029245:24029463:2402962724029146:24029245ENSG00000213983.7ENST00000465445.2,ENST00000554554.1,ENST00000397120.3,ENST00000308724.5,ENST00000557391.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1117881424029463:24029627:24030504:24030640:24030720:2403084424030504:24030640ENSG00000213983.7ENST00000465445.2,ENST00000554554.1,ENST00000397120.3,ENST00000308724.5,ENST00000535852.2,ENST00000554477.1,ENST00000460049.2
exon_skip_1117911424030617:24030640:24030720:24030844:24031170:2403126224030720:24030844ENSG00000213983.7ENST00000465445.2,ENST00000556966.1,ENST00000397120.3,ENST00000308724.5,ENST00000555510.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1117961424030720:24030844:24031170:24031275:24031496:2403161524031170:24031275ENSG00000213983.7ENST00000465445.2,ENST00000397120.3,ENST00000308724.5,ENST00000555510.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1118161424031577:24031624:24031712:24031802:24032588:2403271124031712:24031802ENSG00000213983.7ENST00000465445.2,ENST00000397120.3,ENST00000308724.5,ENST00000555118.1,ENST00000535852.2,ENST00000460049.2,ENST00000554982.1
exon_skip_1118211424032681:24032711:24032792:24032818:24032924:2403295224032792:24032818ENSG00000213983.7ENST00000557162.1,ENST00000555118.1
exon_skip_1118221424032681:24032711:24032792:24032847:24032924:2403295224032792:24032847ENSG00000213983.7ENST00000465445.2,ENST00000397120.3,ENST00000308724.5,ENST00000535852.2,ENST00000460049.2
exon_skip_1118241424032681:24032711:24032792:24033065:24033254:2403329424032792:24033065ENSG00000213983.7ENST00000555974.1
exon_skip_1118291424032827:24032847:24032924:24033065:24033254:2403329424032924:24033065ENSG00000213983.7ENST00000556741.1,ENST00000397120.3,ENST00000308724.5,ENST00000554977.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1118301424032924:24033065:24033254:24033368:24033541:2403359724033254:24033368ENSG00000213983.7ENST00000557162.1,ENST00000397120.3,ENST00000308724.5,ENST00000554977.1,ENST00000535852.2
exon_skip_1118321424032924:24033065:24033254:24033430:24033541:2403359724033254:24033430ENSG00000213983.7ENST00000460049.2
exon_skip_1118391424033254:24033368:24033541:24033597:24033770:2403384024033541:24033597ENSG00000213983.7ENST00000557162.1,ENST00000397120.3,ENST00000308724.5,ENST00000554977.1,ENST00000535852.2
exon_skip_1118431424033824:24033869:24034327:24034408:24034814:2403491024034327:24034408ENSG00000213983.7ENST00000465445.2,ENST00000556277.1,ENST00000397120.3,ENST00000308724.5,ENST00000535852.2,ENST00000460049.2
exon_skip_1118491424034329:24034408:24034814:24034910:24035024:2403510124034814:24034910ENSG00000213983.7ENST00000397120.3,ENST00000308724.5,ENST00000556943.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1118501424034329:24034408:24034814:24034910:24035272:2403536924034814:24034910ENSG00000213983.7ENST00000465445.2,ENST00000556277.1
exon_skip_1118631424034818:24034910:24035024:24035101:24035272:2403536924035024:24035101ENSG00000213983.7ENST00000397120.3,ENST00000308724.5,ENST00000556943.1
exon_skip_1118641424034814:24034910:24035024:24035369:24035486:2403562824035024:24035369ENSG00000213983.7ENST00000555896.1,ENST00000556743.1,ENST00000535852.2,ENST00000460049.2
exon_skip_1118651424034814:24034910:24035272:24035369:24035486:2403562824035272:24035369ENSG00000213983.7ENST00000465445.2,ENST00000556277.1
exon_skip_1118701424035547:24035628:24035770:24035895:24036319:2403652424035770:24035895ENSG00000213983.7ENST00000557482.1,ENST00000556277.1,ENST00000397120.3,ENST00000556843.1,ENST00000557189.1,ENST00000553629.1,ENST00000554069.1
exon_skip_1118771424035547:24035628:24036319:24036528:24036947:2403698824036319:24036528ENSG00000213983.7ENST00000556743.1,ENST00000557619.1,ENST00000556943.1,ENST00000460049.2

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

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Exon skipping events with PSIs in GTEx for AP1G2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1117821424028897:24029059:24029146:24029245:24029463:2402962724029146:24029245ENSG00000213983.7ENST00000308724.5,ENST00000554554.1,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000557391.1
exon_skip_1117881424029463:24029627:24030504:24030640:24030720:2403084424030504:24030640ENSG00000213983.7ENST00000308724.5,ENST00000554554.1,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000554477.1
exon_skip_1117911424030617:24030640:24030720:24030844:24031170:2403126224030720:24030844ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000555510.1,ENST00000556966.1
exon_skip_1117961424030720:24030844:24031170:24031275:24031496:2403161524031170:24031275ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000555510.1
exon_skip_1118161424031577:24031624:24031712:24031802:24032588:2403271124031712:24031802ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000554982.1,ENST00000555118.1
exon_skip_1118211424032681:24032711:24032792:24032818:24032924:2403295224032792:24032818ENSG00000213983.7ENST00000555118.1,ENST00000557162.1
exon_skip_1118221424032681:24032711:24032792:24032847:24032924:2403295224032792:24032847ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2
exon_skip_1118241424032681:24032711:24032792:24033065:24033254:2403329424032792:24033065ENSG00000213983.7ENST00000555974.1
exon_skip_1118291424032827:24032847:24032924:24033065:24033254:2403329424032924:24033065ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000556741.1,ENST00000554977.1
exon_skip_1118301424032924:24033065:24033254:24033368:24033541:2403359724033254:24033368ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000557162.1,ENST00000554977.1
exon_skip_1118321424032924:24033065:24033254:24033430:24033541:2403359724033254:24033430ENSG00000213983.7ENST00000460049.2
exon_skip_1118391424033254:24033368:24033541:24033597:24033770:2403384024033541:24033597ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000557162.1,ENST00000554977.1
exon_skip_1118431424033824:24033869:24034327:24034408:24034814:2403491024034327:24034408ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000465445.2,ENST00000556277.1
exon_skip_1118491424034329:24034408:24034814:24034910:24035024:2403510124034814:24034910ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000535852.2,ENST00000460049.2,ENST00000556943.1
exon_skip_1118501424034329:24034408:24034814:24034910:24035272:2403536924034814:24034910ENSG00000213983.7ENST00000465445.2,ENST00000556277.1
exon_skip_1118631424034818:24034910:24035024:24035101:24035272:2403536924035024:24035101ENSG00000213983.7ENST00000308724.5,ENST00000397120.3,ENST00000556943.1
exon_skip_1118641424034814:24034910:24035024:24035369:24035486:2403562824035024:24035369ENSG00000213983.7ENST00000535852.2,ENST00000460049.2,ENST00000556743.1,ENST00000555896.1
exon_skip_1118651424034814:24034910:24035272:24035369:24035486:2403562824035272:24035369ENSG00000213983.7ENST00000465445.2,ENST00000556277.1
exon_skip_1118701424035547:24035628:24035770:24035895:24036319:2403652424035770:24035895ENSG00000213983.7ENST00000397120.3,ENST00000556277.1,ENST00000553629.1,ENST00000557482.1,ENST00000557189.1,ENST00000554069.1,ENST00000556843.1
exon_skip_1118771424035547:24035628:24036319:24036528:24036947:2403698824036319:24036528ENSG00000213983.7ENST00000460049.2,ENST00000556743.1,ENST00000556943.1,ENST00000557619.1

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 AP1G2

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
ENST000003087242403050424030640Frame-shift
ENST000003971202403050424030640Frame-shift
ENST000003087242403072024030844Frame-shift
ENST000003971202403072024030844Frame-shift
ENST000003087242403279224032847Frame-shift
ENST000003971202403279224032847Frame-shift
ENST000003087242403354124033597Frame-shift
ENST000003971202403354124033597Frame-shift
ENST000003087242403502424035101Frame-shift
ENST000003971202403502424035101Frame-shift
ENST000003971202403577024035895Frame-shift
ENST000003087242402914624029245In-frame
ENST000003971202402914624029245In-frame
ENST000003087242403117024031275In-frame
ENST000003971202403117024031275In-frame
ENST000003087242403171224031802In-frame
ENST000003971202403171224031802In-frame
ENST000003087242403292424033065In-frame
ENST000003971202403292424033065In-frame
ENST000003087242403325424033368In-frame
ENST000003971202403325424033368In-frame
ENST000003087242403432724034408In-frame
ENST000003971202403432724034408In-frame
ENST000003087242403481424034910In-frame
ENST000003971202403481424034910In-frame

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
ENST000003087242403050424030640Frame-shift
ENST000003971202403050424030640Frame-shift
ENST000003087242403072024030844Frame-shift
ENST000003971202403072024030844Frame-shift
ENST000003087242403279224032847Frame-shift
ENST000003971202403279224032847Frame-shift
ENST000003087242403354124033597Frame-shift
ENST000003971202403354124033597Frame-shift
ENST000003087242403502424035101Frame-shift
ENST000003971202403502424035101Frame-shift
ENST000003971202403577024035895Frame-shift
ENST000003087242402914624029245In-frame
ENST000003971202402914624029245In-frame
ENST000003087242403117024031275In-frame
ENST000003971202403117024031275In-frame
ENST000003087242403171224031802In-frame
ENST000003971202403171224031802In-frame
ENST000003087242403292424033065In-frame
ENST000003971202403292424033065In-frame
ENST000003087242403325424033368In-frame
ENST000003971202403325424033368In-frame
ENST000003087242403432724034408In-frame
ENST000003971202403432724034408In-frame
ENST000003087242403481424034910In-frame
ENST000003971202403481424034910In-frame

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Infer the effects of exon skipping event on protein functional features for AP1G2

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
ENST000003087243315785240348142403491014021497215247
ENST0000039712026267852403481424034910716811215247
ENST000003087243315785240343272403440814981578247274
ENST0000039712026267852403432724034408812892247274
ENST000003087243315785240332542403336817341847326363
ENST000003971202626785240332542403336810481161326363
ENST000003087243315785240329242403306518481988364410
ENST000003971202626785240329242403306511621302364410
ENST000003087243315785240317122403180221672256470500
ENST000003971202626785240317122403180214811570470500
ENST000003087243315785240311702403127523852489543577
ENST000003971202626785240311702403127516991803543577
ENST000003087243315785240291462402924529143012719752
ENST000003971202626785240291462402924522282326719752

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
ENST000003087243315785240348142403491014021497215247
ENST0000039712026267852403481424034910716811215247
ENST000003087243315785240343272403440814981578247274
ENST0000039712026267852403432724034408812892247274
ENST000003087243315785240332542403336817341847326363
ENST000003971202626785240332542403336810481161326363
ENST000003087243315785240329242403306518481988364410
ENST000003971202626785240329242403306511621302364410
ENST000003087243315785240317122403180221672256470500
ENST000003971202626785240317122403180214811570470500
ENST000003087243315785240311702403127523852489543577
ENST000003971202626785240311702403127516991803543577
ENST000003087243315785240291462402924529143012719752
ENST000003971202626785240291462402924522282326719752

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
O758432152471785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432152471785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432472741785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432472741785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433263631785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433263631785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433644101785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433644101785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843364410369369MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410369369MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-369. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-369. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-376. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-376. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410376376MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410376376MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410377377Natural variantID=VAR_024363;Note=S->F;Dbxref=dbSNP:rs12897422
O75843364410377377Natural variantID=VAR_024363;Note=S->F;Dbxref=dbSNP:rs12897422
O75843364410369379RegionNote=Essential for ubiquitin-binding
O75843364410369379RegionNote=Essential for ubiquitin-binding
O75843364410399399Sequence conflictNote=A->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410399399Sequence conflictNote=A->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410402402Sequence conflictNote=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410402402Sequence conflictNote=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O758434705001785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758434705001785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758435435771785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758435435771785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843719752721725Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752721725Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752731733Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9G
O75843719752731733Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9G
O75843719752741748Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752741748Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O758437197521785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758437197521785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843719752665780DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O75843719752665780DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O75843719752735737TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752735737TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF


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
O758432152471785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432152471785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432472741785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758432472741785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433263631785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433263631785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433644101785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758433644101785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843364410369369MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410369369MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-369. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-369. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-376. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410372372MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-376. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410376376MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410376376MutagenesisNote=Greatly diminishes interaction with ubiquitin%3B when associated with G-372. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16867982;Dbxref=PMID:16867982
O75843364410377377Natural variantID=VAR_024363;Note=S->F;Dbxref=dbSNP:rs12897422
O75843364410377377Natural variantID=VAR_024363;Note=S->F;Dbxref=dbSNP:rs12897422
O75843364410369379RegionNote=Essential for ubiquitin-binding
O75843364410369379RegionNote=Essential for ubiquitin-binding
O75843364410399399Sequence conflictNote=A->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410399399Sequence conflictNote=A->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410402402Sequence conflictNote=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75843364410402402Sequence conflictNote=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O758434705001785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758434705001785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758435435771785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758435435771785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843719752721725Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752721725Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752731733Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9G
O75843719752731733Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9G
O75843719752741748Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752741748Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O758437197521785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O758437197521785ChainID=PRO_0000193760;Note=AP-1 complex subunit gamma-like 2
O75843719752665780DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O75843719752665780DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O75843719752735737TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF
O75843719752735737TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZHF


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SNVs in the skipped exons for AP1G2

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.
AP1G2_KIRP_exon_skip_111822_psi_boxplot.png
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AP1G2_STAD_exon_skip_111824_psi_boxplot.png
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AP1G2_STAD_exon_skip_111829_psi_boxplot.png
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AP1G2_UCS_exon_skip_111839_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_111782
24029147240292452402919324029193Frame_Shift_DelC-p.G738fs
KIRCTCGA-MM-A564-01exon_skip_111788
24030505240306402403050724030508Frame_Shift_DelGG-p.664_664del
LIHCTCGA-DD-A3A0-01exon_skip_111791
24030721240308442403074024030740Frame_Shift_DelG-p.P613fs
LIHCTCGA-G3-A3CK-01exon_skip_111816
24031713240318022403176624031766Frame_Shift_DelC-p.E483fs
LIHCTCGA-DD-A3A0-01exon_skip_111843
24034328240344082403433024034330Frame_Shift_DelG-p.Q274fs
LIHCTCGA-G3-A3CJ-01exon_skip_111843
24034328240344082403433024034330Frame_Shift_DelG-p.Q274fs
UCECTCGA-D1-A0ZU-01exon_skip_111864
24035025240353692403530824035311Frame_Shift_DelGGGA-p.L177fs
UCECTCGA-D1-A0ZU-01exon_skip_111865
24035273240353692403530824035311Frame_Shift_DelGGGA-p.L177fs
STADTCGA-CG-4306-01exon_skip_111877
24036320240365282403639724036397Frame_Shift_DelC-p.D43fs
KIRPTCGA-EV-5903-01exon_skip_111877
24036320240365282403647224036472Frame_Shift_DelC-p.A18fs
COADTCGA-AM-5820-01exon_skip_111791
24030721240308442403080124030802Frame_Shift_Ins-GCCAp.P593fs
COADTCGA-A6-6781-01exon_skip_111791
24030721240308442403082424030825Frame_Shift_Ins-Tp.M585fs
HNSCTCGA-CR-7390-01exon_skip_111791
24030721240308442403079824030798Nonsense_MutationGAp.Q594*
PRADTCGA-J9-A52C-01exon_skip_111796
24031171240312752403122024031220Nonsense_MutationGAp.Q562*
PRADTCGA-J9-A52C-01exon_skip_111796
24031171240312752403122024031220Nonsense_MutationGAp.Q562X
UCECTCGA-AP-A05N-01exon_skip_111824
24032793240330652403300424033004Nonsense_MutationCAp.E385*
UCECTCGA-AP-A05N-01exon_skip_111829
24032925240330652403300424033004Nonsense_MutationCAp.E385*
STADTCGA-CG-4305-01exon_skip_111824
24032793240330652403301924033019Nonsense_MutationGAp.R380X
STADTCGA-CG-4305-01exon_skip_111829
24032925240330652403301924033019Nonsense_MutationGAp.R380X
KIRPTCGA-A4-8098-01exon_skip_111822
24032793240328472403284824032848Splice_SiteCT.
KIRPTCGA-A4-8098-01exon_skip_111822
24032793240328472403284824032848Splice_SiteCTp.R411_splice
UCSTCGA-N7-A4Y0-01exon_skip_111839
24033542240335972403354024033540Splice_SiteAG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
AP1G2_24035547_24035628_24036319_24036528_24036947_24036988_TCGA-CG-4306-01Sample: TCGA-CG-4306-01
Cancer type: STAD
ESID: exon_skip_111877
Skipped exon start: 24036320
Skipped exon end: 24036528
Mutation start: 24036397
Mutation end: 24036397
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.D43fs
exon_skip_111877_STAD_TCGA-CG-4306-01.png
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exon_skip_299244_STAD_TCGA-CG-4306-01.png
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exon_skip_319017_STAD_TCGA-CG-4306-01.png
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exon_skip_330012_STAD_TCGA-CG-4306-01.png
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exon_skip_330013_STAD_TCGA-CG-4306-01.png
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exon_skip_373868_STAD_TCGA-CG-4306-01.png
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exon_skip_438601_STAD_TCGA-CG-4306-01.png
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exon_skip_438605_STAD_TCGA-CG-4306-01.png
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AP1G2_24034814_24034910_24035024_24035369_24035486_24035628_TCGA-D1-A0ZU-01Sample: TCGA-D1-A0ZU-01
Cancer type: UCEC
ESID: exon_skip_111864
Skipped exon start: 24035025
Skipped exon end: 24035369
Mutation start: 24035308
Mutation end: 24035311
Mutation type: Frame_Shift_Del
Reference seq: GGGA
Mutation seq: -
AAchange: p.L177fs
AP1G2_24034814_24034910_24035024_24035369_24035486_24035628_TCGA-D1-A0ZU-01Sample: TCGA-D1-A0ZU-01
Cancer type: UCEC
ESID: exon_skip_111865
Skipped exon start: 24035273
Skipped exon end: 24035369
Mutation start: 24035308
Mutation end: 24035311
Mutation type: Frame_Shift_Del
Reference seq: GGGA
Mutation seq: -
AAchange: p.L177fs
exon_skip_111864_UCEC_TCGA-D1-A0ZU-01.png
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AP1G2_24033254_24033368_24033541_24033597_24033770_24033840_TCGA-N7-A4Y0-01Sample: TCGA-N7-A4Y0-01
Cancer type: UCS
ESID: exon_skip_111839
Skipped exon start: 24033542
Skipped exon end: 24033597
Mutation start: 24033540
Mutation end: 24033540
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: .
exon_skip_111839_UCS_TCGA-N7-A4Y0-01.png
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exon_skip_146776_UCS_TCGA-N7-A4Y0-01.png
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AP1G2_24032827_24032847_24032924_24033065_24033254_24033294_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_111829
Skipped exon start: 24032925
Skipped exon end: 24033065
Mutation start: 24033019
Mutation end: 24033019
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R380X
AP1G2_24032827_24032847_24032924_24033065_24033254_24033294_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_111824
Skipped exon start: 24032793
Skipped exon end: 24033065
Mutation start: 24033019
Mutation end: 24033019
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R380X
exon_skip_111824_STAD_TCGA-CG-4305-01.png
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exon_skip_111829_STAD_TCGA-CG-4305-01.png
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exon_skip_146150_STAD_TCGA-CG-4305-01.png
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exon_skip_290798_STAD_TCGA-CG-4305-01.png
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exon_skip_301298_STAD_TCGA-CG-4305-01.png
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exon_skip_306904_STAD_TCGA-CG-4305-01.png
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exon_skip_331098_STAD_TCGA-CG-4305-01.png
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exon_skip_340412_STAD_TCGA-CG-4305-01.png
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exon_skip_340419_STAD_TCGA-CG-4305-01.png
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exon_skip_361126_STAD_TCGA-CG-4305-01.png
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exon_skip_382354_STAD_TCGA-CG-4305-01.png
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exon_skip_423582_STAD_TCGA-CG-4305-01.png
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exon_skip_45131_STAD_TCGA-CG-4305-01.png
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exon_skip_45132_STAD_TCGA-CG-4305-01.png
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exon_skip_6108_STAD_TCGA-CG-4305-01.png
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exon_skip_64984_STAD_TCGA-CG-4305-01.png
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AP1G2_24032827_24032847_24032924_24033065_24033254_24033294_TCGA-AP-A05N-01Sample: TCGA-AP-A05N-01
Cancer type: UCEC
ESID: exon_skip_111829
Skipped exon start: 24032925
Skipped exon end: 24033065
Mutation start: 24033004
Mutation end: 24033004
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E385*
AP1G2_24032827_24032847_24032924_24033065_24033254_24033294_TCGA-AP-A05N-01Sample: TCGA-AP-A05N-01
Cancer type: UCEC
ESID: exon_skip_111824
Skipped exon start: 24032793
Skipped exon end: 24033065
Mutation start: 24033004
Mutation end: 24033004
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E385*
exon_skip_111824_UCEC_TCGA-AP-A05N-01.png
boxplot
AP1G2_24032681_24032711_24032792_24033065_24033254_24033294_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_111829
Skipped exon start: 24032925
Skipped exon end: 24033065
Mutation start: 24033019
Mutation end: 24033019
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R380X
AP1G2_24032681_24032711_24032792_24033065_24033254_24033294_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_111824
Skipped exon start: 24032793
Skipped exon end: 24033065
Mutation start: 24033019
Mutation end: 24033019
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R380X
exon_skip_111824_STAD_TCGA-CG-4305-01.png
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exon_skip_111829_STAD_TCGA-CG-4305-01.png
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exon_skip_146150_STAD_TCGA-CG-4305-01.png
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exon_skip_290798_STAD_TCGA-CG-4305-01.png
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exon_skip_301298_STAD_TCGA-CG-4305-01.png
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exon_skip_306904_STAD_TCGA-CG-4305-01.png
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exon_skip_331098_STAD_TCGA-CG-4305-01.png
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exon_skip_340412_STAD_TCGA-CG-4305-01.png
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exon_skip_340419_STAD_TCGA-CG-4305-01.png
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exon_skip_361126_STAD_TCGA-CG-4305-01.png
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exon_skip_382354_STAD_TCGA-CG-4305-01.png
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exon_skip_423582_STAD_TCGA-CG-4305-01.png
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exon_skip_45131_STAD_TCGA-CG-4305-01.png
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exon_skip_45132_STAD_TCGA-CG-4305-01.png
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exon_skip_6108_STAD_TCGA-CG-4305-01.png
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exon_skip_64984_STAD_TCGA-CG-4305-01.png
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AP1G2_24032681_24032711_24032792_24033065_24033254_24033294_TCGA-AP-A05N-01Sample: TCGA-AP-A05N-01
Cancer type: UCEC
ESID: exon_skip_111829
Skipped exon start: 24032925
Skipped exon end: 24033065
Mutation start: 24033004
Mutation end: 24033004
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E385*
AP1G2_24032681_24032711_24032792_24033065_24033254_24033294_TCGA-AP-A05N-01Sample: TCGA-AP-A05N-01
Cancer type: UCEC
ESID: exon_skip_111824
Skipped exon start: 24032793
Skipped exon end: 24033065
Mutation start: 24033004
Mutation end: 24033004
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E385*
exon_skip_111824_UCEC_TCGA-AP-A05N-01.png
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AP1G2_24032681_24032711_24032792_24032847_24032924_24032952_TCGA-A4-8098-01Sample: TCGA-A4-8098-01
Cancer type: KIRP
ESID: exon_skip_111822
Skipped exon start: 24032793
Skipped exon end: 24032847
Mutation start: 24032848
Mutation end: 24032848
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
AP1G2_24032681_24032711_24032792_24032847_24032924_24032952_TCGA-A4-8098-01Sample: TCGA-A4-8098-01
Cancer type: KIRP
ESID: exon_skip_111822
Skipped exon start: 24032793
Skipped exon end: 24032847
Mutation start: 24032848
Mutation end: 24032848
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: p.R411_splice
exon_skip_111822_KIRP_TCGA-A4-8098-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
CHLA218_BONE24029147240292452402919324029193Missense_MutationCTp.G737D
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24030721240308442403078024030780Missense_MutationTCp.K600E
SW1353_BONE24030721240308442403081624030816Missense_MutationCTp.V588M
IALM_LUNG24030721240308442403082724030827Missense_MutationTCp.K584R
42MGBA_CENTRAL_NERVOUS_SYSTEM24031171240312752403123224031232Missense_MutationCTp.V558M
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24032793240328472403282524032825Missense_MutationGTp.H419N
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24032793240330652403282524032825Missense_MutationGTp.H419N
SNUC4_LARGE_INTESTINE24032793240328472403283124032831Missense_MutationGAp.R417C
SNUC4_LARGE_INTESTINE24032793240330652403283124032831Missense_MutationGAp.R417C
SNU1040_LARGE_INTESTINE24032925240330652403294624032946Missense_MutationCTp.G404D
SNU1040_LARGE_INTESTINE24032793240330652403294624032946Missense_MutationCTp.G404D
HCC2450_LUNG24032925240330652403300424033004Missense_MutationCGp.E385Q
HCC2450_LUNG24032793240330652403300424033004Missense_MutationCGp.E385Q
LC2AD_LUNG24032925240330652403301124033011Missense_MutationCAp.M382I
LC2AD_LUNG24032793240330652403301124033011Missense_MutationCAp.M382I
LN18_CENTRAL_NERVOUS_SYSTEM24032925240330652403301524033015Missense_MutationGTp.A381D
LN18_CENTRAL_NERVOUS_SYSTEM24032793240330652403301524033015Missense_MutationGTp.A381D
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24032925240330652403304524033045Missense_MutationAGp.L371P
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24032793240330652403304524033045Missense_MutationAGp.L371P
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24033255240334302403326824033268Missense_MutationCAp.A360S
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24033255240333682403326824033268Missense_MutationCAp.A360S
CW2_LARGE_INTESTINE24033255240334302403334624033346Missense_MutationGAp.L334F
CW2_LARGE_INTESTINE24033255240333682403334624033346Missense_MutationGAp.L334F
NY_BONE24033542240335972403355124033551Missense_MutationCTp.R323K
NCIH2196_LUNG24033542240335972403355724033557Missense_MutationCGp.S321T
MDAMB157_BREAST24034328240344082403433324034333Missense_MutationCTp.A273T
MDAMB453_BREAST24035025240351012403505624035056Missense_MutationCTp.R205Q
MDAMB453_BREAST24035025240353692403505624035056Missense_MutationCTp.R205Q
GBM001_CENTRAL_NERVOUS_SYSTEM24035025240351012403506024035060Missense_MutationCTp.E204K
GBM001_CENTRAL_NERVOUS_SYSTEM24035025240353692403506024035060Missense_MutationCTp.E204K
RKO_LARGE_INTESTINE24035025240351012403507224035072Missense_MutationTCp.T200A
RKO_LARGE_INTESTINE24035025240353692403507224035072Missense_MutationTCp.T200A
RL952_ENDOMETRIUM24035025240353692403528124035281Missense_MutationCTp.R187H
RL952_ENDOMETRIUM24035273240353692403528124035281Missense_MutationCTp.R187H
LS123_LARGE_INTESTINE24035025240353692403530624035306Missense_MutationGAp.P179S
LS123_LARGE_INTESTINE24035273240353692403530624035306Missense_MutationGAp.P179S
NCIH716_LARGE_INTESTINE24035025240353692403531824035318Missense_MutationCGp.V175L
NCIH716_LARGE_INTESTINE24035273240353692403531824035318Missense_MutationCGp.V175L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE24035771240358952403586824035868Missense_MutationAGp.S78P
SNGM_ENDOMETRIUM24035771240358952403588824035888Missense_MutationCTp.C71Y
HUPT3_PANCREAS24036320240365282403633424036334Missense_MutationCTp.A64T
BT474_BREAST24036320240365282403639724036397Missense_MutationCAp.D43Y
HCC515_LUNG24036320240365282403649624036496Missense_MutationCAp.D10Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP1G2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1118291424032827:24032847:24032924:24033065:24033254:2403329424032924:24033065ENST00000556741.1,ENST00000397120.3,ENST00000308724.5,ENST00000554977.1,ENST00000535852.2,ENST00000460049.2LGGrs12897422chr14:24033027A/G2.05e-03
exon_skip_1118241424032681:24032711:24032792:24033065:24033254:2403329424032792:24033065ENST00000555974.1LGGrs12897422chr14:24033027A/G2.05e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP1G2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP1G2


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RelatedDrugs for AP1G2

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 AP1G2

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