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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 AP1G1

check button Gene summary
Gene informationGene symbol

AP1G1

Gene ID

164

Gene nameadaptor related protein complex 1 subunit gamma 1
SynonymsADTG|CLAPG1
Cytomap

16q22.2

Type of geneprotein-coding
DescriptionAP-1 complex subunit gamma-1adapter-related protein complex 1 subunit gamma-1adaptor protein complex AP-1 subunit gamma-1adaptor related protein complex 1 gamma 1 subunitclathrin assembly protein complex 1 gamma large chainclathrin assembly protein c
Modification date20180519
UniProtAcc

O43747

ContextPubMed: AP1G1 [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 AP1G1 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 AP1G1

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 AP1G1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1459101671766287:71767062:71768511:71768610:71772844:7177300571768511:71768610ENSG00000166747.8ENST00000423132.2,ENST00000433195.2,ENST00000569748.1,ENST00000299980.4,ENST00000564155.1,ENST00000393512.3
exon_skip_1459121671772844:71773005:71773136:71773244:71779046:7177917371773136:71773244ENSG00000166747.8ENST00000423132.2,ENST00000565009.1,ENST00000433195.2,ENST00000569748.1,ENST00000299980.4,ENST00000564155.1,ENST00000393512.3
exon_skip_1459131671780490:71780595:71782153:71782281:71783796:7178388671782153:71782281ENSG00000166747.8ENST00000423132.2,ENST00000565009.1,ENST00000433195.2,ENST00000569748.1,ENST00000299980.4,ENST00000565642.1,ENST00000393512.3
exon_skip_1459141671782170:71782281:71783796:71783886:71784112:7178423571783796:71783886ENSG00000166747.8ENST00000423132.2,ENST00000565009.1,ENST00000433195.2,ENST00000569748.1,ENST00000299980.4,ENST00000565642.1,ENST00000562934.1,ENST00000393512.3
exon_skip_1459151671787735:71787790:71789921:71790062:71792710:7179282471789921:71790062ENSG00000166747.8ENST00000423132.2,ENST00000433195.2,ENST00000569748.1,ENST00000568327.1,ENST00000299980.4,ENST00000565642.1,ENST00000393512.3,ENST00000566179.1
exon_skip_1459161671792799:71792824:71795414:71795470:71798252:7179835171795414:71795470ENSG00000166747.8ENST00000423132.2,ENST00000433195.2,ENST00000569748.1,ENST00000568327.1,ENST00000450149.2,ENST00000299980.4,ENST00000565642.1,ENST00000393512.3
exon_skip_1459171671795414:71795470:71798252:71798351:71798548:7179857871798252:71798351ENSG00000166747.8ENST00000423132.2,ENST00000433195.2,ENST00000569748.1,ENST00000568327.1,ENST00000450149.2,ENST00000299980.4,ENST00000565642.1,ENST00000393512.3
exon_skip_1459191671798548:71798629:71799391:71799487:71803525:7180360271799391:71799487ENSG00000166747.8ENST00000433195.2,ENST00000569748.1,ENST00000450149.2,ENST00000299980.4
exon_skip_1459211671799391:71799487:71801779:71801788:71803525:7180360271801779:71801788ENSG00000166747.8ENST00000393512.3
exon_skip_1459221671799391:71799487:71803430:71803439:71803525:7180360271803430:71803439ENSG00000166747.8ENST00000423132.2
exon_skip_1459241671805062:71805155:71806862:71806956:71807123:7180723471806862:71806956ENSG00000166747.8ENST00000450149.2
exon_skip_1459261671805062:71805155:71807123:71807265:71808370:7180849571807123:71807265ENSG00000166747.8ENST00000563259.1,ENST00000423132.2,ENST00000565009.1,ENST00000433195.2,ENST00000569748.1,ENST00000568327.1,ENST00000299980.4,ENST00000393512.3
exon_skip_1459271671807172:71807265:71808370:71808495:71823181:7182338371808370:71808495ENSG00000166747.8ENST00000563259.1,ENST00000569185.1,ENST00000423132.2,ENST00000565009.1,ENST00000433195.2,ENST00000569748.1,ENST00000568327.1,ENST00000450149.2,ENST00000563104.1,ENST00000299980.4,ENST00000393512.3
exon_skip_1459301671808439:71808495:71823181:71823385:71841917:7184205371823181:71823385ENSG00000166747.8ENST00000563259.1,ENST00000566161.1,ENST00000563104.1
exon_skip_1459311671808439:71808495:71823181:71823385:71842665:7184271671823181:71823385ENSG00000166747.8ENST00000423132.2,ENST00000565009.1,ENST00000450149.2,ENST00000393512.3
exon_skip_1459341671823302:71823385:71840588:71840631:71841703:7184174171840588:71840631ENSG00000166747.8ENST00000433195.2,ENST00000570017.1,ENST00000569748.1,ENST00000570297.1
exon_skip_1459361671823302:71823385:71841703:71841741:71841917:7184205371841703:71841741ENSG00000166747.8ENST00000569975.1
exon_skip_1459391671823302:71823385:71841917:71842053:71842407:7184257471841917:71842053ENSG00000166747.8ENST00000563104.1
exon_skip_1459401671823302:71823385:71841917:71842053:71842665:7184271671841917:71842053ENSG00000166747.8ENST00000566161.1
exon_skip_1459421671823302:71823385:71842407:71842580:71842665:7184271671842407:71842580ENSG00000166747.8ENST00000568327.1
exon_skip_1459461671841917:71842053:71842407:71842580:71842665:7184271671842407:71842580ENSG00000166747.8ENST00000433195.2,ENST00000565412.1,ENST00000570017.1,ENST00000569748.1,ENST00000569975.1

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

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Exon skipping events with PSIs in GTEx for AP1G1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1459101671766287:71767062:71768511:71768610:71772844:7177300571768511:71768610ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000564155.1,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3
exon_skip_1459121671772844:71773005:71773136:71773244:71779046:7177917371773136:71773244ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000564155.1,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565009.1
exon_skip_1459131671780490:71780595:71782153:71782281:71783796:7178388671782153:71782281ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565009.1,ENST00000565642.1
exon_skip_1459141671782170:71782281:71783796:71783886:71784112:7178423571783796:71783886ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565009.1,ENST00000565642.1,ENST00000562934.1
exon_skip_1459151671787735:71787790:71789921:71790062:71792710:7179282471789921:71790062ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565642.1,ENST00000568327.1,ENST00000566179.1
exon_skip_1459161671792799:71792824:71795414:71795470:71798252:7179835171795414:71795470ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565642.1,ENST00000568327.1,ENST00000450149.2
exon_skip_1459171671795414:71795470:71798252:71798351:71798548:7179857871798252:71798351ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565642.1,ENST00000568327.1,ENST00000450149.2
exon_skip_1459191671798548:71798629:71799391:71799487:71803525:7180360271799391:71799487ENSG00000166747.8ENST00000299980.4,ENST00000569748.1,ENST00000433195.2,ENST00000450149.2
exon_skip_1459211671799391:71799487:71801779:71801788:71803525:7180360271801779:71801788ENSG00000166747.8ENST00000393512.3
exon_skip_1459241671805062:71805155:71806862:71806956:71807123:7180723471806862:71806956ENSG00000166747.8ENST00000450149.2
exon_skip_1459261671805062:71805155:71807123:71807265:71808370:7180849571807123:71807265ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565009.1,ENST00000568327.1,ENST00000563259.1
exon_skip_1459271671807172:71807265:71808370:71808495:71823181:7182338371808370:71808495ENSG00000166747.8ENST00000299980.4,ENST00000423132.2,ENST00000569748.1,ENST00000433195.2,ENST00000393512.3,ENST00000565009.1,ENST00000568327.1,ENST00000450149.2,ENST00000563259.1,ENST00000563104.1,ENST00000569185.1
exon_skip_1459311671808439:71808495:71823181:71823385:71842665:7184271671823181:71823385ENSG00000166747.8ENST00000423132.2,ENST00000393512.3,ENST00000565009.1,ENST00000450149.2
exon_skip_1459341671823302:71823385:71840588:71840631:71841703:7184174171840588:71840631ENSG00000166747.8ENST00000569748.1,ENST00000433195.2,ENST00000570297.1,ENST00000570017.1
exon_skip_1459361671823302:71823385:71841703:71841741:71841917:7184205371841703:71841741ENSG00000166747.8ENST00000569975.1
exon_skip_1459391671823302:71823385:71841917:71842053:71842407:7184257471841917:71842053ENSG00000166747.8ENST00000563104.1
exon_skip_1459401671823302:71823385:71841917:71842053:71842665:7184271671841917:71842053ENSG00000166747.8ENST00000566161.1
exon_skip_1459421671823302:71823385:71842407:71842580:71842665:7184271671842407:71842580ENSG00000166747.8ENST00000568327.1
exon_skip_1459441671840588:71840631:71841703:71841741:71841917:7184205371841703:71841741ENSG00000166747.8ENST00000570017.1
exon_skip_1459461671841917:71842053:71842407:71842580:71842665:7184271671842407:71842580ENSG00000166747.8ENST00000569748.1,ENST00000433195.2,ENST00000565412.1,ENST00000569975.1,ENST00000570017.1

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 AP1G1

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
ENST0000056974871840588718406313UTR-3UTR
ENST0000056974871842407718425803UTR-3UTR
ENST000002999807178215371782281Frame-shift
ENST000005697487178215371782281Frame-shift
ENST000002999807179541471795470Frame-shift
ENST000005697487179541471795470Frame-shift
ENST000002999807180712371807265Frame-shift
ENST000005697487180712371807265Frame-shift
ENST000002999807180837071808495Frame-shift
ENST000005697487180837071808495Frame-shift
ENST000002999807176851171768610In-frame
ENST000005697487176851171768610In-frame
ENST000002999807177313671773244In-frame
ENST000005697487177313671773244In-frame
ENST000002999807178379671783886In-frame
ENST000005697487178379671783886In-frame
ENST000002999807178992171790062In-frame
ENST000005697487178992171790062In-frame
ENST000002999807179825271798351In-frame
ENST000005697487179825271798351In-frame
ENST000002999807179939171799487In-frame
ENST000005697487179939171799487In-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
ENST0000056974871840588718406313UTR-3UTR
ENST0000056974871842407718425803UTR-3UTR
ENST000002999807178215371782281Frame-shift
ENST000005697487178215371782281Frame-shift
ENST000002999807179541471795470Frame-shift
ENST000005697487179541471795470Frame-shift
ENST000002999807180712371807265Frame-shift
ENST000005697487180712371807265Frame-shift
ENST000002999807180837071808495Frame-shift
ENST000005697487180837071808495Frame-shift
ENST000002999807176851171768610In-frame
ENST000005697487176851171768610In-frame
ENST000002999807177313671773244In-frame
ENST000005697487177313671773244In-frame
ENST000002999807178379671783886In-frame
ENST000005697487178379671783886In-frame
ENST000002999807178992171790062In-frame
ENST000005697487178992171790062In-frame
ENST000002999807179825271798351In-frame
ENST000005697487179825271798351In-frame
ENST000002999807179939171799487In-frame
ENST000005697487179939171799487In-frame

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Infer the effects of exon skipping event on protein functional features for AP1G1

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
ENST000002999806976822717993917179948710851180214246
ENST000005697484571822717993917179948715531648214246
ENST000002999806976822717982527179835112621360273306
ENST000005697484571822717982527179835117301828273306
ENST000002999806976822717899217179006215311671363409
ENST000005697484571822717899217179006219992139363409
ENST000002999806976822717837967178388618501939469499
ENST000005697484571822717837967178388623182407469499
ENST000002999806976822717731367177324424422549666702
ENST000005697484571822717731367177324429103017666702
ENST000002999806976822717685117176861027112809756789
ENST000005697484571822717685117176861031793277756789

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
ENST000002999806976822717993917179948710851180214246
ENST000005697484571822717993917179948715531648214246
ENST000002999806976822717982527179835112621360273306
ENST000005697484571822717982527179835117301828273306
ENST000002999806976822717899217179006215311671363409
ENST000005697484571822717899217179006219992139363409
ENST000002999806976822717837967178388618501939469499
ENST000005697484571822717837967178388623182407469499
ENST000002999806976822717731367177324424422549666702
ENST000005697484571822717731367177324429103017666702
ENST000002999806976822717685117176861027112809756789
ENST000005697484571822717685117176861031793277756789

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
O437472142461822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472142461822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472733061822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472733061822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437473634091822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437473634091822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437474694991822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437474694991822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437476667021822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437476667021822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O43747666702702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747666702702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747666702685685Natural variantID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768
O43747666702685685Natural variantID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768
O43747756789758762Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789758762Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789778785Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789778785Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O437477567891822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437477567891822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O43747756789702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747756789702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747756789772774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789772774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1


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
O437472142461822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472142461822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472733061822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437472733061822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437473634091822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437473634091822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437474694991822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437474694991822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437476667021822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437476667021822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O43747666702702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747666702702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747666702685685Natural variantID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768
O43747666702685685Natural variantID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768
O43747756789758762Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789758762Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789778785Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789778785Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O437477567891822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O437477567891822ChainID=PRO_0000193758;Note=AP-1 complex subunit gamma-1
O43747756789702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747756789702817DomainNote=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093
O43747756789772774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1
O43747756789772774HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1


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SNVs in the skipped exons for AP1G1

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.
AP1G1_ESCA_exon_skip_145922_psi_boxplot.png
boxplot
AP1G1_LGG_exon_skip_145922_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
LIHCTCGA-DD-A39Y-01exon_skip_145910
71768512717686107176855171768551Frame_Shift_DelC-p.G776fs
LIHCTCGA-DD-A1EG-01exon_skip_145912
71773137717732447177318971773189Frame_Shift_DelG-p.P685fs
LIHCTCGA-DD-A3A0-01exon_skip_145915
71789922717900627178996671789966Frame_Shift_DelT-p.E395fs
LIHCTCGA-DD-A39Y-01exon_skip_145917
71798253717983517179829071798290Frame_Shift_DelA-p.L294fs
LIHCTCGA-DD-A3A1-01exon_skip_145919
71799392717994877179941871799418Frame_Shift_DelA-p.S238fs
LIHCTCGA-DD-A1EG-01exon_skip_145919
71799392717994877179947671799476Frame_Shift_DelT-p.Q218fs
SKCMTCGA-EE-A3JI-06exon_skip_145926
71807124718072657180719271807193Frame_Shift_DelTC-p.134_134del
SKCMTCGA-EE-A3JI-06exon_skip_145926
71807124718072657180719271807193Frame_Shift_DelTC-p.EM133fs
LIHCTCGA-G3-A3CJ-01exon_skip_145930
exon_skip_145931
71823182718233857182322771823227Frame_Shift_DelT-p.K52fs
KIRPTCGA-A4-8098-01exon_skip_145910
71768512717686107176853271768533Frame_Shift_Ins-Ap.I782fs
KIRPTCGA-A4-8515-01exon_skip_145910
71768512717686107176853271768533Frame_Shift_Ins-Ap.I782fs
KIRPTCGA-A4-8515-01exon_skip_145910
71768512717686107176853271768533Frame_Shift_Ins-Ap.K786_V787delinsX
KIRPTCGA-A4-8515-01exon_skip_145910
71768512717686107176853271768533Frame_Shift_Ins-Ap.S783fs
UCECTCGA-B5-A11R-01exon_skip_145912
71773137717732447177316671773166Nonsense_MutationGCp.S696*
UCECTCGA-BS-A0UF-01exon_skip_145913
71782154717822817178217371782173Nonsense_MutationGAp.R539*
SKCMTCGA-HR-A2OG-06exon_skip_145914
71783797717838867178381171783811Nonsense_MutationCAp.E495*
SKCMTCGA-HR-A2OG-06exon_skip_145914
71783797717838867178381171783811Nonsense_MutationCAp.E498X
UCECTCGA-AX-A0J0-01exon_skip_145915
71789922717900627179000171790001Nonsense_MutationCAp.E387*
UCECTCGA-D1-A174-01exon_skip_145915
71789922717900627179001671790016Nonsense_MutationGAp.R379*
UCECTCGA-D1-A174-01exon_skip_145915
71789922717900627179001671790016Nonsense_MutationGAp.R382*
CESCTCGA-IR-A3LI-01exon_skip_145917
71798253717983517179826971798269Nonsense_MutationGCp.S324*
LIHCTCGA-DD-A39Z-01exon_skip_145917
71798253717983517179831871798318Nonsense_MutationCAp.G285*
LIHCTCGA-DD-A39Z-01exon_skip_145917
71798253717983517179831871798318Nonsense_MutationCAp.G288X
HNSCTCGA-CV-A45R-01exon_skip_145930
exon_skip_145931
71823182718233857182331371823313Nonsense_MutationGAp.R24*
SKCMTCGA-W3-AA21-06exon_skip_145930
exon_skip_145931
71823182718233857182332571823325Nonsense_MutationGAp.Q20*
LGGTCGA-DU-6392-01exon_skip_145922
71803431718034397180343971803440Splice_Site-Ap.K215_splice
ESCATCGA-L5-A8NM-01exon_skip_145922
71803431718034397180344071803440Splice_SiteA-e6-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
AP1G1_71799391_71799487_71803430_71803439_71803525_71803602_TCGA-L5-A8NM-01Sample: TCGA-L5-A8NM-01
Cancer type: ESCA
ESID: exon_skip_145922
Skipped exon start: 71803431
Skipped exon end: 71803439
Mutation start: 71803440
Mutation end: 71803440
Mutation type: Splice_Site
Reference seq: A
Mutation seq: -
AAchange: e6-1
exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png
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exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png
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AP1G1_71799391_71799487_71803430_71803439_71803525_71803602_TCGA-DU-6392-01Sample: TCGA-DU-6392-01
Cancer type: LGG
ESID: exon_skip_145922
Skipped exon start: 71803431
Skipped exon end: 71803439
Mutation start: 71803439
Mutation end: 71803440
Mutation type: Splice_Site
Reference seq: -
Mutation seq: A
AAchange: p.K215_splice
exon_skip_106946_LGG_TCGA-DU-6392-01.png
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exon_skip_114879_LGG_TCGA-DU-6392-01.png
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exon_skip_120606_LGG_TCGA-DU-6392-01.png
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exon_skip_130417_LGG_TCGA-DU-6392-01.png
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exon_skip_138304_LGG_TCGA-DU-6392-01.png
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exon_skip_143841_LGG_TCGA-DU-6392-01.png
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exon_skip_143843_LGG_TCGA-DU-6392-01.png
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exon_skip_145922_LGG_TCGA-DU-6392-01.png
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exon_skip_155098_LGG_TCGA-DU-6392-01.png
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exon_skip_26359_LGG_TCGA-DU-6392-01.png
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exon_skip_290929_LGG_TCGA-DU-6392-01.png
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exon_skip_297109_LGG_TCGA-DU-6392-01.png
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exon_skip_33957_LGG_TCGA-DU-6392-01.png
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exon_skip_343170_LGG_TCGA-DU-6392-01.png
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exon_skip_354191_LGG_TCGA-DU-6392-01.png
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exon_skip_367235_LGG_TCGA-DU-6392-01.png
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exon_skip_423495_LGG_TCGA-DU-6392-01.png
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exon_skip_423582_LGG_TCGA-DU-6392-01.png
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exon_skip_430528_LGG_TCGA-DU-6392-01.png
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exon_skip_432953_LGG_TCGA-DU-6392-01.png
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exon_skip_436589_LGG_TCGA-DU-6392-01.png
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exon_skip_438105_LGG_TCGA-DU-6392-01.png
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exon_skip_438310_LGG_TCGA-DU-6392-01.png
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exon_skip_442085_LGG_TCGA-DU-6392-01.png
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exon_skip_481046_LGG_TCGA-DU-6392-01.png
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exon_skip_484517_LGG_TCGA-DU-6392-01.png
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exon_skip_502736_LGG_TCGA-DU-6392-01.png
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exon_skip_512614_LGG_TCGA-DU-6392-01.png
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exon_skip_7508_LGG_TCGA-DU-6392-01.png
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exon_skip_7509_LGG_TCGA-DU-6392-01.png
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exon_skip_79467_LGG_TCGA-DU-6392-01.png
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exon_skip_85050_LGG_TCGA-DU-6392-01.png
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exon_skip_95050_LGG_TCGA-DU-6392-01.png
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exon_skip_95053_LGG_TCGA-DU-6392-01.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
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71773137717732447177316471773164Missense_MutationGCp.Q694E
LN215_CENTRAL_NERVOUS_SYSTEM71773137717732447177318771773187Missense_MutationACp.F686C
JHH7_LIVER71773137717732447177319471773194Missense_MutationGCp.P684A
M14_SKIN71773137717732447177319471773194Missense_MutationGAp.P684S
NCIH727_LUNG71773137717732447177320071773200Missense_MutationACp.S682A
BICR18_UPPER_AERODIGESTIVE_TRACT71773137717732447177322471773224Missense_MutationCTp.A674T
NCIH1836_LUNG71782154717822817178218671782186Missense_MutationCTp.M531I
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM71782154717822817178219771782197Missense_MutationTCp.T528A
LNZ308_CENTRAL_NERVOUS_SYSTEM71782154717822817178219771782197Missense_MutationTCp.T528A
GP2D_LARGE_INTESTINE71782154717822817178222771782227Missense_MutationAGp.S518P
TE441T_SOFT_TISSUE71783797717838867178380271783802Missense_MutationTCp.I498V
RCM1_LARGE_INTESTINE71783797717838867178387171783871Missense_MutationCAp.V475L
UACC893_BREAST71789922717900627178992671789926Missense_MutationCTp.E409K
SAS_UPPER_AERODIGESTIVE_TRACT71789922717900627179004771790047Missense_MutationCGp.L368F
CL34_LARGE_INTESTINE71799392717994877179944271799442Missense_MutationCTp.G230R
HEC108_ENDOMETRIUM71807124718072657180720671807206Missense_MutationAGp.M129T
HT144_SKIN71808371718084957180843671808436Missense_MutationTAp.L87F
HEC108_ENDOMETRIUM71808371718084957180844971808449Missense_MutationCTp.R83H
HEC108_ENDOMETRIUM71808371718084957180848871808489Missense_MutationCATTp.C70N
HEC108_ENDOMETRIUM71808371718084957180848871808488Missense_MutationCTp.C70Y
HEC108_ENDOMETRIUM71808371718084957180848971808489Missense_MutationATp.C70S
RL952_ENDOMETRIUM71823182718233857182331271823312Missense_MutationCTp.R24Q
UMUC5_URINARY_TRACT71823182718233857182331671823316Missense_MutationCGp.E23Q
MDAMB415_BREAST71773137717732447177316971773169Nonsense_MutationGTp.S692*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP1G1

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 AP1G1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP1G1


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RelatedDrugs for AP1G1

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 AP1G1

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