|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PRKX |
 Gene summary |
| Gene information | Gene symbol | PRKX | Gene ID | 5613 |
| Gene name | protein kinase X-linked | |
| Synonyms | PKX1 | |
| Cytomap | Xp22.33 | |
| Type of gene | protein-coding | |
| Description | cAMP-dependent protein kinase catalytic subunit PRKXprotein kinase PKX1protein kinase Xserine/threonine-protein kinase PRKX | |
| Modification date | 20180519 | |
| UniProtAcc | P51817 | |
| Context | PubMed: PRKX [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 |
| PRKX | GO:0018105 | peptidyl-serine phosphorylation | 16491121 |
| PRKX | GO:0030099 | myeloid cell differentiation | 9860982 |
| PRKX | GO:0030155 | regulation of cell adhesion | 17980165 |
| PRKX | GO:0030334 | regulation of cell migration | 17980165 |
| PRKX | GO:0046777 | protein autophosphorylation | 10026146|16491121 |
| PRKX | GO:0060562 | epithelial tube morphogenesis | 17980165 |
| PRKX | GO:0060993 | kidney morphogenesis | 17980165 |
| PRKX | GO:2000696 | regulation of epithelial cell differentiation involved in kidney development | 17980165 |
Top |
Exon skipping events across known transcript of Ensembl for PRKX 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. |
 |
Top |
Gene isoform structures and expression levels for PRKX |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PRKX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513623 | X | 3526665:3526986:3529262:3529375:3530217:3530296 | 3529262:3529375 | ENSG00000183943.5 | ENST00000462736.1 |
| exon_skip_513624 | X | 3539299:3539357:3544459:3544555:3559892:3560012 | 3544459:3544555 | ENSG00000183943.5 | ENST00000262848.5,ENST00000425240.1 |
| exon_skip_513628 | X | 3544459:3544555:3559892:3560012:3573189:3573453 | 3559892:3560012 | ENSG00000183943.5 | ENST00000262848.5,ENST00000425240.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PRKX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513623 | X | 3526665:3526986:3529262:3529375:3530217:3530296 | 3529262:3529375 | ENSG00000183943.5 | ENST00000462736.1 |
| exon_skip_513624 | X | 3539299:3539357:3544459:3544555:3559892:3560012 | 3544459:3544555 | ENSG00000183943.5 | ENST00000262848.5,ENST00000425240.1 |
| exon_skip_513628 | X | 3544459:3544555:3559892:3560012:3573189:3573453 | 3559892:3560012 | ENSG00000183943.5 | ENST00000262848.5,ENST00000425240.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PRKX |
| 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 |
| ENST00000262848 | 3544459 | 3544555 | In-frame |
| ENST00000262848 | 3559892 | 3560012 | 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 |
| ENST00000262848 | 3544459 | 3544555 | In-frame |
| ENST00000262848 | 3559892 | 3560012 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PRKX |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000262848 | 6048 | 358 | 3559892 | 3560012 | 955 | 1074 | 200 | 239 |
| ENST00000262848 | 6048 | 358 | 3544459 | 3544555 | 1075 | 1170 | 240 | 271 |
| 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 |
| ENST00000262848 | 6048 | 358 | 3559892 | 3560012 | 955 | 1074 | 200 | 239 |
| ENST00000262848 | 6048 | 358 | 3544459 | 3544555 | 1075 | 1170 | 240 | 271 |
| 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 |
| P51817 | 200 | 239 | 1 | 358 | Chain | ID=PRO_0000086582;Note=cAMP-dependent protein kinase catalytic subunit PRKX |
| P51817 | 200 | 239 | 49 | 303 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P51817 | 200 | 239 | 203 | 203 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922R0 |
| P51817 | 200 | 239 | 202 | 202 | Mutagenesis | Note=Constitutive kinase activity%3B when associated with Q-93. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16236808;Dbxref=PMID:16236808 |
| P51817 | 240 | 271 | 1 | 358 | Chain | ID=PRO_0000086582;Note=cAMP-dependent protein kinase catalytic subunit PRKX |
| P51817 | 240 | 271 | 49 | 303 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| 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 |
| P51817 | 200 | 239 | 1 | 358 | Chain | ID=PRO_0000086582;Note=cAMP-dependent protein kinase catalytic subunit PRKX |
| P51817 | 200 | 239 | 49 | 303 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P51817 | 200 | 239 | 203 | 203 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922R0 |
| P51817 | 200 | 239 | 202 | 202 | Mutagenesis | Note=Constitutive kinase activity%3B when associated with Q-93. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16236808;Dbxref=PMID:16236808 |
| P51817 | 240 | 271 | 1 | 358 | Chain | ID=PRO_0000086582;Note=cAMP-dependent protein kinase catalytic subunit PRKX |
| P51817 | 240 | 271 | 49 | 303 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Top |
SNVs in the skipped exons for PRKX |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_513624 | 3544460 | 3544555 | 3544540 | 3544540 | Frame_Shift_Del | A | - | p.F245fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_513624 | 3544460 | 3544555 | 3544540 | 3544540 | Frame_Shift_Del | A | - | p.F245fs |
| STAD | TCGA-HU-8602-01 | exon_skip_513624 | 3544460 | 3544555 | 3544540 | 3544540 | Frame_Shift_Del | A | - | p.D246fs |
| - 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 |
| SW620_LARGE_INTESTINE | 3544460 | 3544555 | 3544520 | 3544520 | Missense_Mutation | A | G | p.I252T |
| HEC151_ENDOMETRIUM | 3559893 | 3560012 | 3559948 | 3559948 | Missense_Mutation | C | T | p.G222R |
| HT115_LARGE_INTESTINE | 3559893 | 3560012 | 3559972 | 3559972 | Missense_Mutation | C | T | p.E214K |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKX |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKX |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKX |
Top |
RelatedDrugs for PRKX |
| 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 |
Top |
RelatedDiseases for PRKX |
| 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)
|