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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 AZIN1 |
 Gene summary |
| Gene information | Gene symbol | AZIN1 | Gene ID | 51582 |
| Gene name | antizyme inhibitor 1 | |
| Synonyms | AZI|AZI1|AZIA1|OAZI|OAZIN|ODC1L | |
| Cytomap | 8q22.3 | |
| Type of gene | protein-coding | |
| Description | antizyme inhibitor 1ornithine decarboxylase antizyme inhibitor | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AZIN1 | GO:0042177 | negative regulation of protein catabolic process | 17900240 |
| AZIN1 | GO:1902269 | positive regulation of polyamine transmembrane transport | 18508777 |
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Gene structures and expression levels for AZIN1 |
| 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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ENSG00000155096
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000522311.1 | AZIN1-209:lncRNA:AZIN1 | 5.522940e+01 | 1.581918e+00 | 4.464425e-13 | 7.585807e-11 |
| CB | UP | ENST00000523071.1 | AZIN1-210:retained_intron:AZIN1 | 9.949248e+00 | 8.297737e-01 | 8.740491e-08 | 1.891078e-06 |
| CB | UP | ENST00000347770.8 | AZIN1-202:protein_coding:AZIN1 | 4.271687e+02 | 9.195236e-01 | 2.928914e-05 | 2.613726e-04 |
| CB | UP | ENST00000518697.1 | AZIN1-205:lncRNA:AZIN1 | 4.289504e+01 | 1.084752e+00 | 2.855908e-04 | 1.798607e-03 |
| CB | DOWN | ENST00000517996.5 | AZIN1-AS1-204:lncRNA:AZIN1 | 9.938290e-01 | -9.254888e-01 | 1.327018e-02 | 4.369954e-02 |
| TC | UP | ENST00000347770.8 | AZIN1-202:protein_coding:AZIN1 | 4.851485e+02 | 8.141259e-01 | 8.293184e-07 | 3.459270e-05 |
| 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 AZIN1 |
| 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_160705 | chr8 | 102843708:102843747:102849999:102850144:102858013:102858044 | 102849999:102850144 |
| exon_skip_171178 | chr8 | 102829821:102829936:102833056:102833218:102834189:102834263 | 102833056:102833218 |
| exon_skip_223421 | chr8 | 102834666:102834747:102836256:102836390:102838744:102838916 | 102836256:102836390 |
| exon_skip_230060 | chr8 | 102838902:102838916:102839650:102839823:102843551:102843729 | 102839650:102839823 |
| exon_skip_282432 | chr8 | 102838744:102838916:102839650:102839823:102843551:102843729 | 102839650:102839823 |
| exon_skip_4076 | chr8 | 102834261:102834263:102834666:102834747:102836256:102836390 | 102834666:102834747 |
| exon_skip_81192 | chr8 | 102838902:102838916:102839650:102839823:102843551:102843747 | 102839650:102839823 |
| exon_skip_96320 | chr8 | 102843708:102843747:102849999:102850165:102858013:102858044 | 102849999:102850165 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for AZIN1 |
| 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 |
| ENST00000347770 | 102849999 | 102850144 | 3UTR-3UTR |
| ENST00000337198 | 102833056 | 102833218 | Frame-shift |
| ENST00000347770 | 102833056 | 102833218 | Frame-shift |
| ENST00000337198 | 102836256 | 102836390 | In-frame |
| ENST00000347770 | 102836256 | 102836390 | In-frame |
| ENST00000337198 | 102839650 | 102839823 | In-frame |
| ENST00000347770 | 102839650 | 102839823 | 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 |
| ENST00000347770 | 102849999 | 102850144 | 3UTR-3UTR |
| ENST00000337198 | 102833056 | 102833218 | Frame-shift |
| ENST00000347770 | 102833056 | 102833218 | Frame-shift |
| ENST00000337198 | 102839650 | 102839823 | In-frame |
| ENST00000347770 | 102839650 | 102839823 | 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 |
| ENST00000347770 | 102849999 | 102850144 | 3UTR-3UTR |
| ENST00000337198 | 102833056 | 102833218 | Frame-shift |
| ENST00000347770 | 102833056 | 102833218 | Frame-shift |
| ENST00000337198 | 102834666 | 102834747 | Frame-shift |
| ENST00000347770 | 102834666 | 102834747 | Frame-shift |
| ENST00000337198 | 102836256 | 102836390 | In-frame |
| ENST00000347770 | 102836256 | 102836390 | In-frame |
| ENST00000337198 | 102839650 | 102839823 | In-frame |
| ENST00000347770 | 102839650 | 102839823 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AZIN1 |
p-ENSG00000155096_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 |
| ENST00000337198 | 4738 | 448 | 102839650 | 102839823 | 1267 | 1439 | 34 | 91 |
| ENST00000347770 | 2874 | 448 | 102839650 | 102839823 | 869 | 1041 | 34 | 91 |
| ENST00000337198 | 4738 | 448 | 102836256 | 102836390 | 1614 | 1747 | 150 | 194 |
| ENST00000347770 | 2874 | 448 | 102836256 | 102836390 | 1216 | 1349 | 150 | 194 |
| 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 |
| ENST00000337198 | 4738 | 448 | 102839650 | 102839823 | 1267 | 1439 | 34 | 91 |
| ENST00000347770 | 2874 | 448 | 102839650 | 102839823 | 869 | 1041 | 34 | 91 |
| 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 |
| ENST00000337198 | 4738 | 448 | 102839650 | 102839823 | 1267 | 1439 | 34 | 91 |
| ENST00000347770 | 2874 | 448 | 102839650 | 102839823 | 869 | 1041 | 34 | 91 |
| ENST00000337198 | 4738 | 448 | 102836256 | 102836390 | 1614 | 1747 | 150 | 194 |
| ENST00000347770 | 2874 | 448 | 102836256 | 102836390 | 1216 | 1349 | 150 | 194 |
| 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 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| O14977 | 150 | 194 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 150 | 194 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 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 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| 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 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| O14977 | 34 | 91 | 69 | 69 | Site | Note=Not modified;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35484 |
| O14977 | 150 | 194 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
| O14977 | 150 | 194 | 1 | 448 | Chain | ID=PRO_0000149992;Note=Antizyme inhibitor 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AZIN1 |
| 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 | ENST00000347770 | 102849999 | 102850144 | hsa-miR-5585-5p | chr8:102850026-102850033 | 8mer-1a | chr8:102850012-102850033 | 160.00 | -16.60 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4675 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-8070 | chr8:102850059-102850066 | 8mer-1a | chr8:102850041-102850066 | 143.00 | -9.44 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4741 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-217-3p | chr8:102850039-102850046 | 8mer-1a | chr8:102850025-102850046 | 156.00 | -10.15 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-6837-3p | chr8:102850132-102850139 | 8mer-1a | chr8:102850117-102850139 | 140.00 | -10.52 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659a-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
| Mayo | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659b-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-5585-5p | chr8:102850026-102850033 | 8mer-1a | chr8:102850012-102850033 | 160.00 | -16.60 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4675 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-8070 | chr8:102850059-102850066 | 8mer-1a | chr8:102850041-102850066 | 143.00 | -9.44 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4741 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-217-3p | chr8:102850039-102850046 | 8mer-1a | chr8:102850025-102850046 | 156.00 | -10.15 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-6837-3p | chr8:102850132-102850139 | 8mer-1a | chr8:102850117-102850139 | 140.00 | -10.52 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659a-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
| MSBB | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659b-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-5585-5p | chr8:102850026-102850033 | 8mer-1a | chr8:102850012-102850033 | 160.00 | -16.60 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4675 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-8070 | chr8:102850059-102850066 | 8mer-1a | chr8:102850041-102850066 | 143.00 | -9.44 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4741 | chr8:102850083-102850090 | 8mer-1a | chr8:102850083-102850105 | 163.00 | -26.56 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-217-3p | chr8:102850039-102850046 | 8mer-1a | chr8:102850025-102850046 | 156.00 | -10.15 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-6837-3p | chr8:102850132-102850139 | 8mer-1a | chr8:102850117-102850139 | 140.00 | -10.52 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659a-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
| ROSMAP | ENST00000347770 | 102849999 | 102850144 | hsa-miR-4659b-3p | chr8:102850033-102850040 | 8mer-1a | chr8:102850018-102850040 | 151.00 | -17.48 |
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SNVs in the skipped exons for AZIN1 |
| - 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 AZIN1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_36084 | 4.253133e-01 | 2.405215e-02 | chr8 | - | 102829821 | 102829936 | 102830126 | 102830221 | 102833056 | 102833218 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AZIN1 |
| 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 AZIN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPDL | exon_skip_160705 | 4.309451e-01 | 1.583275e-08 |
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RelatedDrugs for AZIN1 |
| 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 AZIN1 |
| 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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