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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for P2RX2 |
 Gene summary |
| Gene information | Gene symbol | P2RX2 | Gene ID | 22953 |
| Gene name | purinergic receptor P2X 2 | |
| Synonyms | DFNA41|P2X2 | |
| Cytomap | 12q24.33 | |
| Type of gene | protein-coding | |
| Description | P2X purinoceptor 2ATP receptorP2X Receptor, subunit 2purinergic receptor P2X, ligand gated ion channel, 2 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9UBL9 | |
| Context | PubMed: P2RX2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for P2RX2 from UCSC genome browser |
| Skipped 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. |
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Gene isoform structures and expression levels for P2RX2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for P2RX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88973 | 12 | 133195426:133195575:133196024:133196160:133196429:133196505 | 133196024:133196160 | ENSG00000187848.8 | ENST00000350048.5,ENST00000449132.2 |
| exon_skip_88975 | 12 | 133196043:133196160:133196264:133196336:133196429:133196505 | 133196264:133196336 | ENSG00000187848.8 | ENST00000389110.3,ENST00000536121.1,ENST00000542301.1,ENST00000348800.5,ENST00000343948.4,ENST00000535910.1 |
| exon_skip_88977 | 12 | 133196043:133196160:133196429:133196505:133196585:133196682 | 133196429:133196505 | ENSG00000187848.8 | ENST00000350048.5 |
| exon_skip_88979 | 12 | 133196043:133196160:133196585:133196682:133196852:133196933 | 133196585:133196682 | ENSG00000187848.8 | ENST00000352418.4 |
| exon_skip_88980 | 12 | 133196429:133196505:133196585:133196682:133196852:133196933 | 133196585:133196682 | ENSG00000187848.8 | ENST00000350048.5,ENST00000389110.3,ENST00000536121.1,ENST00000351222.4,ENST00000542301.1,ENST00000348800.5,ENST00000343948.4,ENST00000535910.1 |
| exon_skip_88981 | 12 | 133196429:133196505:133196620:133196682:133196852:133196933 | 133196620:133196682 | ENSG00000187848.8 | ENST00000449132.2 |
| exon_skip_88982 | 12 | 133198060:133198126:133198204:133198282:133198483:133198558 | 133198204:133198282 | ENSG00000187848.8 | ENST00000348800.5,ENST00000449132.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for P2RX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88973 | 12 | 133195426:133195575:133196024:133196160:133196429:133196505 | 133196024:133196160 | ENSG00000187848.8 | ENST00000449132.2,ENST00000350048.5 |
| exon_skip_88975 | 12 | 133196043:133196160:133196264:133196336:133196429:133196505 | 133196264:133196336 | ENSG00000187848.8 | ENST00000389110.3,ENST00000343948.4,ENST00000348800.5,ENST00000542301.1,ENST00000536121.1,ENST00000535910.1 |
| exon_skip_88977 | 12 | 133196043:133196160:133196429:133196505:133196585:133196682 | 133196429:133196505 | ENSG00000187848.8 | ENST00000350048.5 |
| exon_skip_88979 | 12 | 133196043:133196160:133196585:133196682:133196852:133196933 | 133196585:133196682 | ENSG00000187848.8 | ENST00000352418.4 |
| exon_skip_88980 | 12 | 133196429:133196505:133196585:133196682:133196852:133196933 | 133196585:133196682 | ENSG00000187848.8 | ENST00000389110.3,ENST00000343948.4,ENST00000350048.5,ENST00000351222.4,ENST00000348800.5,ENST00000542301.1,ENST00000536121.1,ENST00000535910.1 |
| exon_skip_88981 | 12 | 133196429:133196505:133196620:133196682:133196852:133196933 | 133196620:133196682 | ENSG00000187848.8 | ENST00000449132.2 |
| exon_skip_88982 | 12 | 133198060:133198126:133198204:133198282:133198483:133198558 | 133198204:133198282 | ENSG00000187848.8 | ENST00000449132.2,ENST00000348800.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for P2RX2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000389110 | 133196585 | 133196682 | Frame-shift |
| ENST00000389110 | 133196264 | 133196336 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000389110 | 133196585 | 133196682 | Frame-shift |
| ENST00000389110 | 133196264 | 133196336 | In-frame |
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Infer the effects of exon skipping event on protein functional features for P2RX2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000389110 | 1884 | 471 | 133196264 | 133196336 | 347 | 418 | 103 | 127 |
| Loci of skipped exons in GTEx 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 |
| ENST00000389110 | 1884 | 471 | 133196264 | 133196336 | 347 | 418 | 103 | 127 |
| 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 feature | Description of feature |
| 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 feature | Description of feature |
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SNVs in the skipped exons for P2RX2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUSC | TCGA-63-5128-01 | exon_skip_88975 | 133196265 | 133196336 | 133196330 | 133196330 | Frame_Shift_Del | C | - | p.C125fs |
| CESC | TCGA-EK-A2RJ-01 | exon_skip_88973 | 133196025 | 133196160 | 133196044 | 133196044 | Nonsense_Mutation | A | T | p.K65* |
| KIRC | TCGA-CJ-4902-01 | exon_skip_88973 | 133196025 | 133196160 | 133196058 | 133196058 | Nonsense_Mutation | G | T | p.E47* |
| KIRC | TCGA-CJ-4902-01 | exon_skip_88973 | 133196025 | 133196160 | 133196058 | 133196058 | Nonsense_Mutation | G | T | p.E47X |
| BLCA | TCGA-UY-A78L-01 | exon_skip_88975 | 133196265 | 133196336 | 133196313 | 133196313 | Nonsense_Mutation | C | T | p.Q120* |
| STAD | TCGA-BR-7197-01 | exon_skip_88975 | 133196265 | 133196336 | 133196330 | 133196330 | Nonsense_Mutation | C | A | p.C125* |
| STAD | TCGA-BR-7197-01 | exon_skip_88975 | 133196265 | 133196336 | 133196330 | 133196330 | Nonsense_Mutation | C | A | p.C125X |
| LUAD | TCGA-50-5941-01 | exon_skip_88977 | 133196430 | 133196505 | 133196474 | 133196474 | Nonsense_Mutation | C | A | p.C142* |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_88975 | 133196265 | 133196336 | 133196264 | 133196264 | Splice_Site | G | - | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133196025 | 133196160 | 133196111 | 133196114 | Frame_Shift_Del | CGTC | - | p.TS87fs |
| PACADD137_PANCREAS | 133196586 | 133196682 | 133196674 | 133196675 | Frame_Shift_Del | CT | - | p.S183fs |
| PACADD137_PANCREAS | 133196621 | 133196682 | 133196674 | 133196675 | Frame_Shift_Del | CT | - | p.S183fs |
| NCIBL1770_MATCHED_NORMAL_TISSUE | 133196025 | 133196160 | 133196095 | 133196095 | Missense_Mutation | G | A | p.V82I |
| HEC6_ENDOMETRIUM | 133196265 | 133196336 | 133196274 | 133196274 | Missense_Mutation | G | A | p.V107M |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133196265 | 133196336 | 133196311 | 133196311 | Missense_Mutation | C | T | p.S119F |
| SISO_CERVIX | 133196265 | 133196336 | 133196326 | 133196326 | Missense_Mutation | C | G | p.T124S |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133196265 | 133196336 | 133196326 | 133196326 | Missense_Mutation | C | G | p.T124S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133196430 | 133196505 | 133196475 | 133196475 | Missense_Mutation | G | A | p.V143M |
| NCIH446_LUNG | 133196430 | 133196505 | 133196496 | 133196496 | Missense_Mutation | C | G | p.L150V |
| HEC59_ENDOMETRIUM | 133196586 | 133196682 | 133196604 | 133196604 | Missense_Mutation | G | A | p.C159Y |
| CAOV4_OVARY | 133198205 | 133198282 | 133198227 | 133198227 | Missense_Mutation | T | G | p.I362S |
| JHUEM2_ENDOMETRIUM | 133198205 | 133198282 | 133198230 | 133198230 | Missense_Mutation | T | C | p.L363S |
| SNU1040_LARGE_INTESTINE | 133198205 | 133198282 | 133198263 | 133198263 | Missense_Mutation | G | A | p.S374N |
| SKN_ENDOMETRIUM | 133198205 | 133198282 | 133198278 | 133198278 | Missense_Mutation | A | G | p.D379G |
| GP2D_LARGE_INTESTINE | 133196025 | 133196160 | 133196160 | 133196160 | Splice_Site | G | T | p.E103D |
| GP5D_LARGE_INTESTINE | 133196025 | 133196160 | 133196160 | 133196160 | Splice_Site | G | T | p.E103D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for P2RX2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for P2RX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for P2RX2 |
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RelatedDrugs for P2RX2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for P2RX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| P2RX2 | C1842371 | DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) | 2 | UNIPROT |
| P2RX2 | C0014544 | Epilepsy | 1 | CTD_human |
| P2RX2 | C0020429 | Hyperalgesia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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