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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 RPS6KA1 |
 Gene summary |
| Gene information | Gene symbol | RPS6KA1 | Gene ID | 6195 |
| Gene name | ribosomal protein S6 kinase A1 | |
| Synonyms | HU-1|MAPKAPK1A|RSK|RSK1|p90Rsk | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | ribosomal protein S6 kinase alpha-190 kDa ribosomal protein S6 kinase 1MAP kinase-activated protein kinase 1aMAPK-activated protein kinase 1aMAPKAP kinase 1aMAPKAPK-1aRSK-1S6K-alpha 1dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1)p9 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15418 | |
| Context | PubMed: RPS6KA1 [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 |
| RPS6KA1 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18402937 |
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Exon skipping events across known transcript of Ensembl for RPS6KA1 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 RPS6KA1 |
| 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 RPS6KA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2935 | 1 | 26856268:26856474:26863415:26863460:26873357:26873474 | 26863415:26863460 | ENSG00000117676.9 | ENST00000524436.1,ENST00000374168.2,ENST00000374166.4 |
| exon_skip_2941 | 1 | 26863415:26863460:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000526792.1,ENST00000524436.1,ENST00000374168.2,ENST00000374166.4 |
| exon_skip_2942 | 1 | 26863415:26863460:26873679:26873761:26877887:26877968 | 26873679:26873761 | ENSG00000117676.9 | ENST00000529454.1,ENST00000374162.2 |
| exon_skip_2945 | 1 | 26869652:26869712:26870565:26870669:26873357:26873447 | 26870565:26870669 | ENSG00000117676.9 | ENST00000366866.4 |
| exon_skip_2950 | 1 | 26869652:26869712:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000530003.1,ENST00000531113.1 |
| exon_skip_2955 | 1 | 26872342:26872526:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530607.1,ENST00000531382.1 |
| exon_skip_2957 | 1 | 26873733:26873761:26877887:26877968:26878134:26878214 | 26877887:26877968 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000529454.1,ENST00000366866.4,ENST00000374168.2,ENST00000527264.1,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2958 | 1 | 26878134:26878214:26879308:26879387:26879881:26879917 | 26879308:26879387 | ENSG00000117676.9 | ENST00000374163.1 |
| exon_skip_2959 | 1 | 26880704:26880742:26881086:26881229:26881641:26881712 | 26881086:26881229 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374162.2 |
| exon_skip_2960 | 1 | 26881689:26881712:26882027:26882116:26883144:26883209 | 26882027:26882116 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2961 | 1 | 26882027:26882116:26882566:26882654:26883144:26883209 | 26882566:26882654 | ENSG00000117676.9 | ENST00000488985.1 |
| exon_skip_2962 | 1 | 26882027:26882116:26883144:26883209:26883488:26883527 | 26883144:26883209 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2963 | 1 | 26885297:26885428:26887216:26887342:26887535:26887625 | 26887216:26887342 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2965 | 1 | 26887535:26887625:26887995:26888154:26897939:26897999 | 26887995:26888154 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000403732.2,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2966 | 1 | 26887995:26888154:26897939:26898101:26898339:26898416 | 26897939:26898101 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531113.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| exon_skip_2968 | 1 | 26898339:26898416:26898666:26898784:26899714:26899852 | 26898666:26898784 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530003.1,ENST00000526792.1,ENST00000531382.1,ENST00000374168.2,ENST00000374166.4,ENST00000374162.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPS6KA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2935 | 1 | 26856268:26856474:26863415:26863460:26873357:26873474 | 26863415:26863460 | ENSG00000117676.9 | ENST00000374168.2,ENST00000524436.1,ENST00000374166.4 |
| exon_skip_2941 | 1 | 26863415:26863460:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000374168.2,ENST00000524436.1,ENST00000374166.4,ENST00000526792.1 |
| exon_skip_2942 | 1 | 26863415:26863460:26873679:26873761:26877887:26877968 | 26873679:26873761 | ENSG00000117676.9 | ENST00000529454.1,ENST00000374162.2 |
| exon_skip_2945 | 1 | 26869652:26869712:26870565:26870669:26873357:26873447 | 26870565:26870669 | ENSG00000117676.9 | ENST00000366866.4 |
| exon_skip_2950 | 1 | 26869652:26869712:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000530003.1,ENST00000531113.1 |
| exon_skip_2955 | 1 | 26872342:26872526:26873357:26873474:26873679:26873761 | 26873357:26873474 | ENSG00000117676.9 | ENST00000374163.1,ENST00000530607.1,ENST00000531382.1 |
| exon_skip_2957 | 1 | 26873733:26873761:26877887:26877968:26878134:26878214 | 26877887:26877968 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000529454.1,ENST00000374162.2,ENST00000530003.1,ENST00000366866.4,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1,ENST00000527264.1 |
| exon_skip_2958 | 1 | 26878134:26878214:26879308:26879387:26879881:26879917 | 26879308:26879387 | ENSG00000117676.9 | ENST00000374163.1 |
| exon_skip_2959 | 1 | 26880704:26880742:26881086:26881229:26881641:26881712 | 26881086:26881229 | ENSG00000117676.9 | ENST00000374168.2,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1 |
| exon_skip_2960 | 1 | 26881689:26881712:26882027:26882116:26883144:26883209 | 26882027:26882116 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1 |
| exon_skip_2961 | 1 | 26882027:26882116:26882566:26882654:26883144:26883209 | 26882566:26882654 | ENSG00000117676.9 | ENST00000488985.1 |
| exon_skip_2962 | 1 | 26882027:26882116:26883144:26883209:26883488:26883527 | 26883144:26883209 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1 |
| exon_skip_2963 | 1 | 26885297:26885428:26887216:26887342:26887535:26887625 | 26887216:26887342 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1 |
| exon_skip_2965 | 1 | 26887535:26887625:26887995:26888154:26897939:26897999 | 26887995:26888154 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1,ENST00000403732.2 |
| exon_skip_2966 | 1 | 26887995:26888154:26897939:26898101:26898339:26898416 | 26897939:26898101 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000531113.1,ENST00000374163.1,ENST00000531382.1 |
| exon_skip_2968 | 1 | 26898339:26898416:26898666:26898784:26899714:26899852 | 26898666:26898784 | ENSG00000117676.9 | ENST00000374168.2,ENST00000374166.4,ENST00000526792.1,ENST00000374162.2,ENST00000530003.1,ENST00000374163.1,ENST00000531382.1 |
| 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 RPS6KA1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for RPS6KA1 |
| 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 RPS6KA1 |
| - 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-G3-A3CJ-01 | exon_skip_2963 | 26887217 | 26887342 | 26887239 | 26887239 | Frame_Shift_Del | T | - | p.V413fs |
| LGG | TCGA-DU-A7TD-01 | exon_skip_2965 | 26887996 | 26888154 | 26888117 | 26888117 | Frame_Shift_Del | C | - | p.T518fs |
| CESC | TCGA-FU-A23L-01 | exon_skip_2968 | 26898667 | 26898784 | 26898762 | 26898763 | Frame_Shift_Del | AC | - | p.N642fs |
| CESC | TCGA-FU-A23L-01 | exon_skip_2968 | 26898667 | 26898784 | 26898762 | 26898763 | Frame_Shift_Del | AC | - | p.T652fs |
| HNSC | TCGA-HD-A6I0-01 | exon_skip_2963 | 26887217 | 26887342 | 26887287 | 26887288 | Frame_Shift_Ins | - | CT | p.F429fs |
| THYM | TCGA-XU-A92Z-01 | exon_skip_2968 | 26898667 | 26898784 | 26898704 | 26898704 | Nonsense_Mutation | G | T | p.E632X |
| - 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 |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 26863416 | 26863460 | 26863429 | 26863429 | Missense_Mutation | C | T | p.S26L |
| CORL23_LUNG | 26873358 | 26873474 | 26873403 | 26873403 | Missense_Mutation | G | C | p.A52P |
| JHH7_LIVER | 26873358 | 26873474 | 26873463 | 26873463 | Missense_Mutation | T | G | p.S72A |
| SKMG1_CENTRAL_NERVOUS_SYSTEM | 26873680 | 26873761 | 26873733 | 26873733 | Missense_Mutation | G | A | p.M93I |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26873680 | 26873761 | 26873753 | 26873753 | Missense_Mutation | C | T | p.T100M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26877888 | 26877968 | 26877930 | 26877930 | Missense_Mutation | C | T | p.A117V |
| GP2D_LARGE_INTESTINE | 26881087 | 26881229 | 26881179 | 26881179 | Missense_Mutation | C | T | p.R236C |
| GP5D_LARGE_INTESTINE | 26881087 | 26881229 | 26881179 | 26881179 | Missense_Mutation | C | T | p.R236C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26882028 | 26882116 | 26882084 | 26882084 | Missense_Mutation | C | T | p.A295V |
| NCIH1930_LUNG | 26883145 | 26883209 | 26883150 | 26883150 | Missense_Mutation | G | T | p.G308C |
| SNU1040_LARGE_INTESTINE | 26887217 | 26887342 | 26887256 | 26887256 | Missense_Mutation | G | A | p.V419M |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26887217 | 26887342 | 26887264 | 26887264 | Missense_Mutation | G | T | p.K421N |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 26887217 | 26887342 | 26887302 | 26887302 | Missense_Mutation | G | A | p.R434H |
| SF295_CENTRAL_NERVOUS_SYSTEM | 26887217 | 26887342 | 26887320 | 26887320 | Missense_Mutation | C | A | p.T440N |
| EN_ENDOMETRIUM | 26887996 | 26888154 | 26888009 | 26888009 | Missense_Mutation | G | A | p.G482D |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26897940 | 26898101 | 26898010 | 26898010 | Missense_Mutation | G | A | p.R554H |
| DMS53_LUNG | 26898667 | 26898784 | 26898708 | 26898708 | Missense_Mutation | A | T | p.E624V |
| NB5_AUTONOMIC_GANGLIA | 26887217 | 26887342 | 26887217 | 26887217 | Splice_Site | C | A | p.Q406K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPS6KA1 |
| 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 |
| exon_skip_2958 | 1 | 26878134:26878214:26879308:26879387:26879881:26879917 | 26879308:26879387 | ENST00000374163.1 | THCA | rs7543005 | chr1:26879376 | T/C | 5.81e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KA1 |
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RelatedDrugs for RPS6KA1 |
| 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 |
| Q15418 | DB12010 | Fostamatinib | Ribosomal protein S6 kinase alpha-1 | small molecule | approved|investigational |
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RelatedDiseases for RPS6KA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RPS6KA1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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