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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 PRKRA |
 Gene summary |
| Gene information | Gene symbol | PRKRA | Gene ID | 8575 |
| Gene name | protein activator of interferon induced protein kinase EIF2AK2 | |
| Synonyms | DYT16|HSD14|PACT|RAX | |
| Cytomap | 2q31.2 | |
| Type of gene | protein-coding | |
| Description | interferon-inducible double-stranded RNA-dependent protein kinase activator APKR-associated protein XPKR-associating protein Xprotein activator of the interferon-induced protein kinaseprotein kinase, interferon-inducible double-stranded RNA-dependent | |
| Modification date | 20180522 | |
| UniProtAcc | O75569 | |
| Context | PubMed: PRKRA [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 |
| PRKRA | GO:0030422 | production of siRNA involved in RNA interference | 17452327 |
| PRKRA | GO:0031054 | pre-miRNA processing | 16424907|23661684 |
| PRKRA | GO:0035196 | production of miRNAs involved in gene silencing by miRNA | 23661684 |
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Exon skipping events across known transcript of Ensembl for PRKRA 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 PRKRA |
| 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 PRKRA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345213 | 2 | 179296702:179296981:179300871:179301046:179306336:179306431 | 179300871:179301046 | ENSG00000180228.8 | ENST00000490501.1,ENST00000325748.4,ENST00000487082.1,ENST00000432031.2,ENST00000424699.1,ENST00000438687.3 |
| exon_skip_345217 | 2 | 179301000:179301046:179306336:179306431:179307993:179308111 | 179306336:179306431 | ENSG00000180228.8 | ENST00000490501.1,ENST00000325748.4,ENST00000487082.1,ENST00000432031.2,ENST00000424699.1,ENST00000438687.3,ENST00000474793.1 |
| exon_skip_345219 | 2 | 179308069:179308111:179309148:179309227:179312231:179312313 | 179309148:179309227 | ENSG00000180228.8 | ENST00000325748.4,ENST00000487082.1,ENST00000432031.2 |
| exon_skip_345223 | 2 | 179308069:179308111:179312231:179312313:179314968:179315138 | 179312231:179312313 | ENSG00000180228.8 | ENST00000457633.1 |
| exon_skip_345228 | 2 | 179309148:179309227:179310152:179310262:179312231:179312313 | 179310152:179310262 | ENSG00000180228.8 | ENST00000424699.1,ENST00000438687.3 |
| exon_skip_345230 | 2 | 179309148:179309227:179312182:179312313:179314968:179315138 | 179312182:179312313 | ENSG00000180228.8 | ENST00000448279.1 |
| exon_skip_345233 | 2 | 179309148:179309227:179312231:179312313:179314968:179315138 | 179312231:179312313 | ENSG00000180228.8 | ENST00000325748.4,ENST00000487082.1,ENST00000432031.2 |
| exon_skip_345241 | 2 | 179312242:179312313:179314968:179315138:179315692:179315748 | 179314968:179315138 | ENSG00000180228.8 | ENST00000470200.1,ENST00000424699.1,ENST00000466165.1,ENST00000438687.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKRA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345213 | 2 | 179296702:179296981:179300871:179301046:179306336:179306431 | 179300871:179301046 | ENSG00000180228.8 | ENST00000325748.4,ENST00000490501.1,ENST00000424699.1,ENST00000438687.3,ENST00000487082.1,ENST00000432031.2 |
| exon_skip_345217 | 2 | 179301000:179301046:179306336:179306431:179307993:179308111 | 179306336:179306431 | ENSG00000180228.8 | ENST00000325748.4,ENST00000490501.1,ENST00000424699.1,ENST00000438687.3,ENST00000487082.1,ENST00000432031.2,ENST00000474793.1 |
| exon_skip_345219 | 2 | 179308069:179308111:179309148:179309227:179312231:179312313 | 179309148:179309227 | ENSG00000180228.8 | ENST00000325748.4,ENST00000487082.1,ENST00000432031.2 |
| exon_skip_345223 | 2 | 179308069:179308111:179312231:179312313:179314968:179315138 | 179312231:179312313 | ENSG00000180228.8 | ENST00000457633.1 |
| exon_skip_345228 | 2 | 179309148:179309227:179310152:179310262:179312231:179312313 | 179310152:179310262 | ENSG00000180228.8 | ENST00000424699.1,ENST00000438687.3 |
| exon_skip_345230 | 2 | 179309148:179309227:179312182:179312313:179314968:179315138 | 179312182:179312313 | ENSG00000180228.8 | ENST00000448279.1 |
| exon_skip_345233 | 2 | 179309148:179309227:179312231:179312313:179314968:179315138 | 179312231:179312313 | ENSG00000180228.8 | ENST00000325748.4,ENST00000487082.1,ENST00000432031.2 |
| exon_skip_345241 | 2 | 179312242:179312313:179314968:179315138:179315692:179315748 | 179314968:179315138 | ENSG00000180228.8 | ENST00000424699.1,ENST00000438687.3,ENST00000470200.1,ENST00000466165.1 |
| 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 PRKRA |
| 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 |
| ENST00000325748 | 179300871 | 179301046 | Frame-shift |
| ENST00000325748 | 179306336 | 179306431 | Frame-shift |
| ENST00000325748 | 179309148 | 179309227 | Frame-shift |
| ENST00000325748 | 179312231 | 179312313 | Frame-shift |
| 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 |
| ENST00000325748 | 179300871 | 179301046 | Frame-shift |
| ENST00000325748 | 179306336 | 179306431 | Frame-shift |
| ENST00000325748 | 179309148 | 179309227 | Frame-shift |
| ENST00000325748 | 179312231 | 179312313 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PRKRA |
| 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 |
| 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 |
| 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 PRKRA |
| - 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 |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_345213 | 179300872 | 179301046 | 179300978 | 179300978 | Frame_Shift_Del | G | - | p.I226fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_345213 | 179300872 | 179301046 | 179300978 | 179300978 | Frame_Shift_Del | G | - | p.N227fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345217 | 179306337 | 179306431 | 179306385 | 179306385 | Frame_Shift_Del | T | - | p.K187fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345217 | 179306337 | 179306431 | 179306402 | 179306402 | Frame_Shift_Del | T | - | p.R182fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_345217 | 179306337 | 179306431 | 179306402 | 179306402 | Frame_Shift_Del | T | - | p.R182fs |
| UCEC | TCGA-A5-A0GI-01 | exon_skip_345230 | 179312183 | 179312313 | 179312281 | 179312282 | Frame_Shift_Del | TA | - | p.H89fs |
| UCEC | TCGA-A5-A0GI-01 | exon_skip_345223 exon_skip_345233 | 179312232 | 179312313 | 179312281 | 179312282 | Frame_Shift_Del | TA | - | p.H89fs |
| STAD | TCGA-BR-4369-01 | exon_skip_345213 | 179300872 | 179301046 | 179301024 | 179301024 | Nonsense_Mutation | A | T | p.L211* |
| STAD | TCGA-BR-4369-01 | exon_skip_345213 | 179300872 | 179301046 | 179301024 | 179301024 | Nonsense_Mutation | A | T | p.L211X |
| LUSC | TCGA-85-6561-01 | exon_skip_345241 | 179314969 | 179315138 | 179315083 | 179315083 | Nonsense_Mutation | C | A | p.E41* |
| PCPG | TCGA-QR-A6H4-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| PCPG | TCGA-QR-A70A-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| PCPG | TCGA-RW-A686-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| PCPG | TCGA-SQ-A6I6-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| STAD | TCGA-BR-8297-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| UVM | TCGA-VD-A8KA-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| UVM | TCGA-VD-A8KE-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| UVM | TCGA-VD-A8KJ-01 | exon_skip_345213 | 179300872 | 179301046 | 179300871 | 179300871 | Splice_Site | C | T | . |
| ESCA | TCGA-L5-A4OH-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| ESCA | TCGA-L5-A4OH-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | e7-1 |
| PCPG | TCGA-PR-A5PG-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| PCPG | TCGA-QR-A6GW-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| THCA | TCGA-EL-A4JW-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| UVM | TCGA-VD-A8KF-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| UVM | TCGA-VD-A8KJ-01 | exon_skip_345213 | 179300872 | 179301046 | 179301047 | 179301047 | Splice_Site | C | T | . |
| KIRP | TCGA-DW-5560-01 | exon_skip_345217 | 179306337 | 179306431 | 179306335 | 179306335 | Splice_Site | A | G | . |
| CHOL | TCGA-3X-AAVA-01 | exon_skip_345217 | 179306337 | 179306431 | 179306336 | 179306336 | Splice_Site | C | T | . |
| ESCA | TCGA-2H-A9GF-01 | exon_skip_345217 | 179306337 | 179306431 | 179306336 | 179306336 | Splice_Site | C | T | . |
| KIRP | TCGA-DW-5560-01 | exon_skip_345217 | 179306337 | 179306431 | 179306336 | 179306336 | Splice_Site | C | T | . |
| UVM | TCGA-V4-A9ET-01 | exon_skip_345217 | 179306337 | 179306431 | 179306336 | 179306336 | Splice_Site | C | T | . |
| PAAD | TCGA-IB-AAUS-01 | exon_skip_345217 | 179306337 | 179306431 | 179306433 | 179306433 | Splice_Site | T | A | . |
| THCA | TCGA-FK-A3SB-01 | exon_skip_345217 | 179306337 | 179306431 | 179306433 | 179306433 | Splice_Site | T | A | . |
| KIRC | TCGA-BP-4960-01 | exon_skip_345219 | 179309149 | 179309227 | 179309147 | 179309147 | Splice_Site | A | T | . |
| SKCM | TCGA-FS-A4FC-06 | exon_skip_345219 | 179309149 | 179309227 | 179309147 | 179309147 | Splice_Site | A | T | . |
| PCPG | TCGA-PR-A5PG-01 | exon_skip_345223 exon_skip_345233 | 179312232 | 179312313 | 179312231 | 179312231 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A5-A0GI-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_345233 | |
| Skipped exon start: 179312232 | |
| Skipped exon end: 179312313 | |
| Mutation start: 179312281 | |
| Mutation end: 179312282 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TA | |
| Mutation seq: - | |
| AAchange: p.H89fs | |
| Sample: TCGA-A5-A0GI-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_345230 | |
| Skipped exon start: 179312183 | |
| Skipped exon end: 179312313 | |
| Mutation start: 179312281 | |
| Mutation end: 179312282 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TA | |
| Mutation seq: - | |
| AAchange: p.H89fs | |
exon_skip_143740_UCEC_TCGA-A5-A0GI-01.png | |
exon_skip_345230_UCEC_TCGA-A5-A0GI-01.png | |
| - 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 |
| SNU1040_LARGE_INTESTINE | 179300872 | 179301046 | 179300894 | 179300894 | Frame_Shift_Del | A | - | p.F254fs |
| SNUC2A_LARGE_INTESTINE | 179306337 | 179306431 | 179306413 | 179306413 | Frame_Shift_Del | T | - | p.K178fs |
| SNUC2B_LARGE_INTESTINE | 179306337 | 179306431 | 179306413 | 179306413 | Frame_Shift_Del | T | - | p.K178fs |
| RMUGS_OVARY | 179300872 | 179301046 | 179300952 | 179300952 | Missense_Mutation | C | G | p.S235T |
| HCET_UPPER_AERODIGESTIVE_TRACT | 179300872 | 179301046 | 179300952 | 179300952 | Missense_Mutation | C | G | p.S235T |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179300872 | 179301046 | 179300974 | 179300974 | Missense_Mutation | A | C | p.L228V |
| SW13_ADRENAL_CORTEX | 179306337 | 179306431 | 179306341 | 179306341 | Missense_Mutation | G | T | p.S202Y |
| D392MG_CENTRAL_NERVOUS_SYSTEM | 179309149 | 179309227 | 179309222 | 179309222 | Missense_Mutation | G | C | p.A108G |
| NCIH2342_LUNG | 179314969 | 179315138 | 179315017 | 179315017 | Missense_Mutation | C | G | p.V63L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179314969 | 179315138 | 179315023 | 179315023 | Missense_Mutation | T | C | p.I61V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 179314969 | 179315138 | 179315023 | 179315023 | Missense_Mutation | T | C | p.I61V |
| LNCAPCLONEFGC_PROSTATE | 179314969 | 179315138 | 179315035 | 179315035 | Missense_Mutation | A | T | p.S57T |
| TT_OESOPHAGUS | 179314969 | 179315138 | 179315124 | 179315124 | Missense_Mutation | A | G | p.I27T |
| OVISE_OVARY | 179314969 | 179315138 | 179315124 | 179315124 | Missense_Mutation | A | G | p.I27T |
| HCC78_LUNG | 179314969 | 179315138 | 179315127 | 179315127 | Missense_Mutation | A | T | p.M26K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKRA |
| 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 PRKRA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKRA |
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RelatedDrugs for PRKRA |
| 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 PRKRA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PRKRA | C0242422 | Parkinsonian Disorders | 1 | CTD_human;HPO |
| PRKRA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| PRKRA | C0393593 | Dystonia Disorders | 1 | CTD_human |
| PRKRA | C2677567 | DYSTONIA 16 (disorder) | 1 | ORPHANET;UNIPROT |
| PRKRA | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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