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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for AP1G1 |
 Gene summary |
| Gene information | Gene symbol | AP1G1 | Gene ID | 164 |
| Gene name | adaptor related protein complex 1 subunit gamma 1 | |
| Synonyms | ADTG|CLAPG1 | |
| Cytomap | 16q22.2 | |
| Type of gene | protein-coding | |
| Description | AP-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 date | 20200313 | |
| UniProtAcc | B3KNW1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for AP1G1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000166747
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000569975.5 | AP1G1-219:protein_coding:AP1G1 | 7.245938e+00 | 8.069351e-01 | 1.491142e-06 | 2.105722e-05 |
| CB | UP | ENST00000393512.7 | AP1G1-202:protein_coding:AP1G1 | 1.344612e+02 | 9.613452e-01 | 6.708173e-06 | 7.517658e-05 |
| CB | UP | ENST00000569748.5 | AP1G1-218:protein_coding:AP1G1 | 2.114571e+01 | 1.310576e+00 | 9.460634e-06 | 1.006175e-04 |
| CB | UP | ENST00000570052.1 | AP1G1-221:retained_intron:AP1G1 | 1.856300e+01 | 2.279644e+00 | 7.953091e-04 | 4.259698e-03 |
| CB | UP | ENST00000568327.5 | AP1G1-215:nonsense_mediated_decay:AP1G1 | 1.717247e+00 | 1.322917e+00 | 3.015651e-03 | 1.296404e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AP1G1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_108196 | chr16 | 71732385:71733159:71734609:71734707:71738942:71739102 | 71734609:71734707 |
| exon_skip_152586 | chr16 | 71764646:71764726:71765489:71765584:71769623:71769699 | 71765489:71765584 |
| exon_skip_157622 | chr16 | 71769623:71769699:71771156:71771252:71773221:71773331 | 71771156:71771252 |
| exon_skip_171615 | chr16 | 71808015:71808150:71808505:71808677:71808763:71808813 | 71808505:71808677 |
| exon_skip_183386 | chr16 | 71761512:71761567:71764350:71764448:71764646:71764675 | 71764350:71764448 |
| exon_skip_202592 | chr16 | 71789400:71789482:71808015:71808150:71808505:71808671 | 71808015:71808150 |
| exon_skip_204642 | chr16 | 71789400:71789482:71806686:71806728:71807801:71807838 | 71806686:71806728 |
| exon_skip_210156 | chr16 | 71771156:71771252:71772960:71773053:71773221:71773362 | 71772960:71773053 |
| exon_skip_215463 | chr16 | 71746588:71746692:71748251:71748378:71749894:71749983 | 71748251:71748378 |
| exon_skip_239052 | chr16 | 71771160:71771252:71772960:71773053:71773221:71773362 | 71772960:71773053 |
| exon_skip_248988 | chr16 | 71765493:71765584:71767877:71767885:71769623:71769699 | 71767877:71767885 |
| exon_skip_249035 | chr16 | 71789400:71789482:71808015:71808150:71808763:71808813 | 71808015:71808150 |
| exon_skip_264833 | chr16 | 71758808:71758921:71761512:71761567:71764350:71764448 | 71761512:71761567 |
| exon_skip_276237 | chr16 | 71738942:71739102:71739234:71739341:71745144:71745270 | 71739234:71739341 |
| exon_skip_277781 | chr16 | 71789400:71789482:71807801:71807838:71808015:71808150 | 71807801:71807838 |
| exon_skip_29500 | chr16 | 71739234:71739341:71745144:71745270:71745473:71745614 | 71745144:71745270 |
| exon_skip_35087 | chr16 | 71765489:71765584:71767877:71767885:71769623:71769699 | 71767877:71767885 |
| exon_skip_52173 | chr16 | 71758897:71758921:71761512:71761567:71764350:71764448 | 71761512:71761567 |
| exon_skip_53055 | chr16 | 71789400:71789482:71808505:71808677:71808763:71808813 | 71808505:71808677 |
| exon_skip_60577 | chr16 | 71771160:71771252:71773221:71773362:71774468:71774592 | 71773221:71773362 |
| exon_skip_72237 | chr16 | 71771160:71771252:71772960:71773053:71773221:71773331 | 71772960:71773053 |
| exon_skip_87133 | chr16 | 71769623:71769699:71771156:71771252:71773221:71773362 | 71771156:71771252 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_35087 | MSBB_PG | 7.098507e-01 | 8.158491e-01 | -1.059983e-01 | 2.355380e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for AP1G1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000569748 | 71806686 | 71806728 | 3UTR-3UTR |
| ENST00000569748 | 71808505 | 71808677 | 3UTR-3UTR |
| ENST00000299980 | 71748251 | 71748378 | Frame-shift |
| ENST00000569748 | 71748251 | 71748378 | Frame-shift |
| ENST00000299980 | 71761512 | 71761567 | Frame-shift |
| ENST00000569748 | 71761512 | 71761567 | Frame-shift |
| ENST00000299980 | 71771156 | 71771252 | Frame-shift |
| ENST00000569748 | 71771156 | 71771252 | Frame-shift |
| ENST00000299980 | 71765489 | 71765584 | In-frame |
| ENST00000569748 | 71765489 | 71765584 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000569748 | 71806686 | 71806728 | 3UTR-3UTR |
| ENST00000569748 | 71808505 | 71808677 | 3UTR-3UTR |
| ENST00000299980 | 71745144 | 71745270 | Frame-shift |
| ENST00000569748 | 71745144 | 71745270 | Frame-shift |
| ENST00000299980 | 71748251 | 71748378 | Frame-shift |
| ENST00000569748 | 71748251 | 71748378 | Frame-shift |
| ENST00000299980 | 71761512 | 71761567 | Frame-shift |
| ENST00000569748 | 71761512 | 71761567 | Frame-shift |
| ENST00000299980 | 71739234 | 71739341 | In-frame |
| ENST00000569748 | 71739234 | 71739341 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000569748 | 71806686 | 71806728 | 3UTR-3UTR |
| ENST00000569748 | 71808505 | 71808677 | 3UTR-3UTR |
| ENST00000299980 | 71748251 | 71748378 | Frame-shift |
| ENST00000569748 | 71748251 | 71748378 | Frame-shift |
| ENST00000299980 | 71761512 | 71761567 | Frame-shift |
| ENST00000569748 | 71761512 | 71761567 | Frame-shift |
| ENST00000299980 | 71771156 | 71771252 | Frame-shift |
| ENST00000569748 | 71771156 | 71771252 | Frame-shift |
| ENST00000299980 | 71773221 | 71773362 | Frame-shift |
| ENST00000569748 | 71773221 | 71773362 | Frame-shift |
| ENST00000299980 | 71734609 | 71734707 | In-frame |
| ENST00000569748 | 71734609 | 71734707 | In-frame |
| ENST00000299980 | 71764350 | 71764448 | In-frame |
| ENST00000569748 | 71764350 | 71764448 | In-frame |
| ENST00000299980 | 71765489 | 71765584 | In-frame |
| ENST00000569748 | 71765489 | 71765584 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP1G1 |
p-ENSG00000166747_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000299980 | 6986 | 822 | 71765489 | 71765584 | 1085 | 1179 | 214 | 245 |
| ENST00000569748 | 4571 | 822 | 71765489 | 71765584 | 1553 | 1647 | 214 | 245 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000299980 | 6986 | 822 | 71739234 | 71739341 | 2442 | 2548 | 666 | 702 |
| ENST00000569748 | 4571 | 822 | 71739234 | 71739341 | 2910 | 3016 | 666 | 702 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000299980 | 6986 | 822 | 71765489 | 71765584 | 1085 | 1179 | 214 | 245 |
| ENST00000569748 | 4571 | 822 | 71765489 | 71765584 | 1553 | 1647 | 214 | 245 |
| ENST00000299980 | 6986 | 822 | 71764350 | 71764448 | 1262 | 1359 | 273 | 305 |
| ENST00000569748 | 4571 | 822 | 71764350 | 71764448 | 1730 | 1827 | 273 | 305 |
| ENST00000299980 | 6986 | 822 | 71734609 | 71734707 | 2711 | 2808 | 756 | 788 |
| ENST00000569748 | 4571 | 822 | 71734609 | 71734707 | 3179 | 3276 | 756 | 788 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O43747 | 214 | 245 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 214 | 245 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O43747 | 666 | 702 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 666 | 702 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 666 | 702 | 702 | 817 | Domain | Note=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093 |
| O43747 | 666 | 702 | 702 | 817 | Domain | Note=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093 |
| O43747 | 666 | 702 | 685 | 685 | Natural variant | ID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768 |
| O43747 | 666 | 702 | 685 | 685 | Natural variant | ID=VAR_013572;Note=P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733768;Dbxref=dbSNP:rs904763,PMID:9733768 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O43747 | 214 | 245 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 214 | 245 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 273 | 305 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 273 | 305 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 756 | 788 | 758 | 762 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
| O43747 | 756 | 788 | 758 | 762 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
| O43747 | 756 | 788 | 778 | 785 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
| O43747 | 756 | 788 | 778 | 785 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
| O43747 | 756 | 788 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 756 | 788 | 1 | 822 | Chain | ID=PRO_0000193758;Note=AP-1 complex subunit gamma-1 |
| O43747 | 756 | 788 | 702 | 817 | Domain | Note=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093 |
| O43747 | 756 | 788 | 702 | 817 | Domain | Note=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093 |
| O43747 | 756 | 788 | 772 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
| O43747 | 756 | 788 | 772 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IU1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP1G1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-609 | chr16:71808646-71808653 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-6748-5p | chr16:71808648-71808655 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-1253 | chr16:71808639-71808646 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4726-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-516b-5p | chr16:71808577-71808584 | 8mer-1a | chr16:71808577-71808599 | 157.00 | -27.25 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4640-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| Mayo | ENST00000569748 | 71808505 | 71808677 | hsa-miR-937-3p | chr16:71808540-71808547 | 8mer-1a | chr16:71808527-71808547 | 144.00 | -28.81 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-609 | chr16:71808646-71808653 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-6748-5p | chr16:71808648-71808655 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-1253 | chr16:71808639-71808646 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4726-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-516b-5p | chr16:71808577-71808584 | 8mer-1a | chr16:71808577-71808599 | 157.00 | -27.25 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4640-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| MSBB | ENST00000569748 | 71808505 | 71808677 | hsa-miR-937-3p | chr16:71808540-71808547 | 8mer-1a | chr16:71808527-71808547 | 144.00 | -28.81 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-609 | chr16:71808646-71808653 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-6748-5p | chr16:71808648-71808655 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-1253 | chr16:71808639-71808646 | 8mer-1a | chr16:71808635-71808656 | 161.00 | -23.70 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4726-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-516b-5p | chr16:71808577-71808584 | 8mer-1a | chr16:71808577-71808599 | 157.00 | -27.25 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-4640-5p | chr16:71808617-71808624 | 8mer-1a | chr16:71808601-71808624 | 172.00 | -32.44 |
| ROSMAP | ENST00000569748 | 71808505 | 71808677 | hsa-miR-937-3p | chr16:71808540-71808547 | 8mer-1a | chr16:71808527-71808547 | 144.00 | -28.81 |
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SNVs in the skipped exons for AP1G1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for AP1G1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP1G1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AP1G1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | FUBP3 | exon_skip_204642 | 4.883083e-01 | 4.715349e-08 |
| CB | NUP42 | exon_skip_204642 | 4.118837e-01 | 6.421265e-06 |
| IFG | PCBP4 | exon_skip_249897 | -4.998429e-01 | 2.103831e-02 |
| IFG | SRSF1 | exon_skip_249897 | -4.398095e-01 | 4.603615e-02 |
| IFG | PCBP4 | exon_skip_49587 | -4.952576e-01 | 7.369648e-03 |
| PG | ILF2 | exon_skip_249035 | 4.132996e-01 | 1.098377e-07 |
| STG | SRSF2 | exon_skip_249035 | 5.018435e-01 | 2.111953e-06 |
| STG | MBNL1 | exon_skip_249035 | 4.520190e-01 | 2.564718e-05 |
| STG | ILF2 | exon_skip_249035 | 4.859453e-01 | 4.889793e-06 |
| STG | KHDRBS3 | exon_skip_249035 | 4.330572e-01 | 6.015198e-05 |
| STG | RBM24 | exon_skip_249035 | 4.360329e-01 | 5.279527e-05 |
| STG | RALYL | exon_skip_249035 | 4.328105e-01 | 6.080292e-05 |
| STG | SRSF1 | exon_skip_249035 | 5.012178e-01 | 2.184654e-06 |
| STG | SRSF9 | exon_skip_249035 | 4.538579e-01 | 2.354806e-05 |
| STG | RBM4B | exon_skip_249035 | 4.702669e-01 | 1.075049e-05 |
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RelatedDrugs for AP1G1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AP1G1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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