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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 PADI2 |
 Gene summary |
| Gene information | Gene symbol | PADI2 | Gene ID | 11240 |
| Gene name | peptidyl arginine deiminase 2 | |
| Synonyms | PAD-H19|PAD2|PDI2 | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | protein-arginine deiminase type-2peptidyl arginine deiminase, type IIprotein-arginine deiminase type II | |
| Modification date | 20200313 | |
| UniProtAcc | Q9Y2J8, | |
| Context | - 20002008(Anti-cyclic Citrullinated Peptide Antibody (anti-CCP Antibody) Is Present in the Sera of Patients With Dementia of Alzheimer's Type in Asian) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PADI2 | GO:0010848 | regulation of chromatin disassembly | 22853951 |
| PADI2 | GO:0018101 | protein citrullination | 12392711|15629448|25621824 |
| PADI2 | GO:0036413 | histone H3-R26 citrullination | 22853951 |
| PADI2 | GO:0070100 | negative regulation of chemokine-mediated signaling pathway | 18645041 |
| PADI2 | GO:1901624 | negative regulation of lymphocyte chemotaxis | 18645041 |
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Gene structures and expression levels for PADI2 |
| 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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ENSG00000117115
| 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 |
| PG | UP | ENST00000479534.5 | PADI2-204:lncRNA:PADI2 | 1.176837e+01 | 1.386928e+00 | 2.257053e-03 | 2.605731e-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 PADI2 |
| 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_214978 | chr1 | 17095909:17095970:17102987:17103059:17104878:17105061 | 17102987:17103059 |
| exon_skip_231983 | chr1 | 17086521:17086699:17092408:17092533:17093567:17093684 | 17092408:17092533 |
| exon_skip_247324 | chr1 | 17102987:17103059:17104878:17105061:17119280:17119435 | 17104878:17105061 |
| exon_skip_247756 | chr1 | 17092408:17092533:17093567:17093684:17095909:17095970 | 17093567:17093684 |
| exon_skip_52816 | chr1 | 17075679:17075823:17079264:17079415:17082545:17082602 | 17079264:17079415 |
| exon_skip_57092 | chr1 | 17075679:17075823:17079264:17079415:17082545:17082652 | 17079264:17079415 |
| exon_skip_69939 | chr1 | 17070088:17070216:17071406:17071491:17074856:17074949 | 17071406:17071491 |
| exon_skip_72208 | chr1 | 17083726:17083837:17084599:17084702:17086521:17086699 | 17084599:17084702 |
| 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 PADI2 |
| 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 |
| ENST00000375486 | 17071406 | 17071491 | Frame-shift |
| ENST00000375486 | 17079264 | 17079415 | Frame-shift |
| ENST00000375486 | 17084599 | 17084702 | Frame-shift |
| ENST00000375486 | 17102987 | 17103059 | Frame-shift |
| ENST00000375486 | 17092408 | 17092533 | 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 |
| ENST00000375486 | 17071406 | 17071491 | Frame-shift |
| ENST00000375486 | 17079264 | 17079415 | Frame-shift |
| ENST00000375486 | 17084599 | 17084702 | Frame-shift |
| ENST00000375486 | 17092408 | 17092533 | 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 |
| ENST00000375486 | 17071406 | 17071491 | Frame-shift |
| ENST00000375486 | 17079264 | 17079415 | Frame-shift |
| ENST00000375486 | 17084599 | 17084702 | Frame-shift |
| ENST00000375486 | 17093567 | 17093684 | Frame-shift |
| ENST00000375486 | 17102987 | 17103059 | Frame-shift |
| ENST00000375486 | 17092408 | 17092533 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PADI2 |
p-ENSG00000117115_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 |
| ENST00000375486 | 4362 | 665 | 17092408 | 17092533 | 594 | 718 | 176 | 218 |
| 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 |
| ENST00000375486 | 4362 | 665 | 17092408 | 17092533 | 594 | 718 | 176 | 218 |
| 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 |
| ENST00000375486 | 4362 | 665 | 17092408 | 17092533 | 594 | 718 | 176 | 218 |
| 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 |
| Q9Y2J8 | 176 | 218 | 181 | 193 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 198 | 203 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 212 | 216 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 1 | 665 | Chain | ID=PRO_0000220026;Note=Protein-arginine deiminase type-2 |
| Q9Y2J8 | 176 | 218 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 207 | 210 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|PDB:4N2B,ECO: |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|P |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:000024 |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Mutagenesis | Note=Reduced enzyme activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621824;Dbxref=PMID:25621824 |
| 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 |
| Q9Y2J8 | 176 | 218 | 181 | 193 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 198 | 203 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 212 | 216 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 1 | 665 | Chain | ID=PRO_0000220026;Note=Protein-arginine deiminase type-2 |
| Q9Y2J8 | 176 | 218 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 207 | 210 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|PDB:4N2B,ECO: |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|P |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:000024 |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Mutagenesis | Note=Reduced enzyme activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621824;Dbxref=PMID:25621824 |
| 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 |
| Q9Y2J8 | 176 | 218 | 181 | 193 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 198 | 203 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 212 | 216 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 1 | 665 | Chain | ID=PRO_0000220026;Note=Protein-arginine deiminase type-2 |
| Q9Y2J8 | 176 | 218 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 207 | 210 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4N2K |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|PDB:4N2B,ECO: |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:0000244|PDB:4N2A,ECO:0000244|P |
| Q9Y2J8 | 176 | 218 | 180 | 180 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4N25,ECO:0000244|PDB:4N26,ECO:0000244|PDB:4N28,ECO:000024 |
| Q9Y2J8 | 176 | 218 | 177 | 177 | Mutagenesis | Note=Reduced enzyme activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621824;Dbxref=PMID:25621824 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PADI2 |
| 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 |
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SNVs in the skipped exons for PADI2 |
| - 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 PADI2 |
| 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_57092 | -4.715299e-01 | 1.130803e-02 | chr1 | - | 17075679 | 17075823 | 17079264 | 17079415 | 17082545 | 17082652 |
| CDR | MSBB | IFG | exon_skip_57092 | -4.546420e-01 | 1.507257e-02 | chr1 | - | 17075679 | 17075823 | 17079264 | 17079415 | 17082545 | 17082652 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PADI2 |
| 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 PADI2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4B | exon_skip_72208 | -5.111118e-01 | 4.343959e-11 |
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RelatedDrugs for PADI2 |
| 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 PADI2 |
| 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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