ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RPS6KL1

Gene summary

Gene information	Gene symbol	RPS6KL1
	Gene ID	83694
	Gene name	ribosomal protein S6 kinase like 1
	Synonyms	RSKL2
	Cytomap	14q24.3
	Type of gene	protein-coding
	Description	ribosomal protein S6 kinase-like 1
	Modification date	20180519
	UniProtAcc	Q9Y6S9
	Context	PubMed: RPS6KL1 [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 RPS6KL1 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 RPS6KL1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for RPS6KL1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_114538	14	75373720:75373827:75374137:75374233:75375552:75375635	75374137:75374233	ENSG00000198208.7	ENST00000553789.1,ENST00000358328.4,ENST00000354625.2,ENST00000557413.1,ENST00000555009.1,ENST00000555647.1
exon_skip_114539	14	75375552:75375635:75375803:75375864:75376245:75376371	75375803:75375864	ENSG00000198208.7	ENST00000556848.1
exon_skip_114541	14	75375552:75375635:75375803:75375893:75376245:75376371	75375803:75375893	ENSG00000198208.7	ENST00000358328.4,ENST00000354625.2,ENST00000557413.1,ENST00000555009.1,ENST00000555647.1
exon_skip_114542	14	75375552:75375635:75375803:75375893:75377950:75377979	75375803:75375893	ENSG00000198208.7	ENST00000553789.1,ENST00000553971.1
exon_skip_114544	14	75375552:75375635:75375803:75376851:75377950:75377979	75375803:75376851	ENSG00000198208.7	ENST00000555834.1
exon_skip_114547	14	75375803:75375893:75376245:75376851:75377950:75377979	75376245:75376851	ENSG00000198208.7	ENST00000358328.4,ENST00000354625.2,ENST00000557413.1,ENST00000555009.1,ENST00000555647.1
exon_skip_114550	14	75378055:75378083:75378496:75378544:75385215:75385253	75378496:75378544	ENSG00000198208.7	ENST00000554900.1,ENST00000358328.4,ENST00000553894.2,ENST00000555834.1,ENST00000557413.1,ENST00000555647.1
exon_skip_114551	14	75378055:75378083:75378496:75378544:75386547:75386672	75378496:75378544	ENSG00000198208.7	ENST00000354625.2,ENST00000555009.1
exon_skip_114558	14	75378496:75378544:75385215:75385308:75386547:75386672	75385215:75385308	ENSG00000198208.7	ENST00000554900.1,ENST00000358328.4,ENST00000553894.2,ENST00000555834.1,ENST00000557413.1,ENST00000555647.1
exon_skip_114562	14	75388218:75388264:75388680:75389145:75389882:75389946	75388680:75389145	ENSG00000198208.7	ENST00000556776.1
exon_skip_114563	14	75388218:75388264:75388680:75389188:75389882:75389946	75388680:75389188	ENSG00000198208.7	ENST00000553894.2,ENST00000557413.1
exon_skip_114564	14	75388218:75388264:75389043:75389188:75389882:75389946	75389043:75389188	ENSG00000198208.7	ENST00000555647.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RPS6KL1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_114538	14	75373720:75373827:75374137:75374233:75375552:75375635	75374137:75374233	ENSG00000198208.7	ENST00000555009.1,ENST00000555647.1,ENST00000354625.2,ENST00000553789.1,ENST00000557413.1,ENST00000358328.4
exon_skip_114539	14	75375552:75375635:75375803:75375864:75376245:75376371	75375803:75375864	ENSG00000198208.7	ENST00000556848.1
exon_skip_114541	14	75375552:75375635:75375803:75375893:75376245:75376371	75375803:75375893	ENSG00000198208.7	ENST00000555009.1,ENST00000555647.1,ENST00000354625.2,ENST00000557413.1,ENST00000358328.4
exon_skip_114542	14	75375552:75375635:75375803:75375893:75377950:75377979	75375803:75375893	ENSG00000198208.7	ENST00000553971.1,ENST00000553789.1
exon_skip_114544	14	75375552:75375635:75375803:75376851:75377950:75377979	75375803:75376851	ENSG00000198208.7	ENST00000555834.1
exon_skip_114547	14	75375803:75375893:75376245:75376851:75377950:75377979	75376245:75376851	ENSG00000198208.7	ENST00000555009.1,ENST00000555647.1,ENST00000354625.2,ENST00000557413.1,ENST00000358328.4
exon_skip_114550	14	75378055:75378083:75378496:75378544:75385215:75385253	75378496:75378544	ENSG00000198208.7	ENST00000555834.1,ENST00000555647.1,ENST00000557413.1,ENST00000358328.4,ENST00000553894.2,ENST00000554900.1
exon_skip_114551	14	75378055:75378083:75378496:75378544:75386547:75386672	75378496:75378544	ENSG00000198208.7	ENST00000555009.1,ENST00000354625.2
exon_skip_114558	14	75378496:75378544:75385215:75385308:75386547:75386672	75385215:75385308	ENSG00000198208.7	ENST00000555834.1,ENST00000555647.1,ENST00000557413.1,ENST00000358328.4,ENST00000553894.2,ENST00000554900.1
exon_skip_114562	14	75388218:75388264:75388680:75389145:75389882:75389946	75388680:75389145	ENSG00000198208.7	ENST00000556776.1
exon_skip_114563	14	75388218:75388264:75388680:75389188:75389882:75389946	75388680:75389188	ENSG00000198208.7	ENST00000557413.1,ENST00000553894.2
exon_skip_114564	14	75388218:75388264:75389043:75389188:75389882:75389946	75389043:75389188	ENSG00000198208.7	ENST00000555647.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RPS6KL1

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
ENST00000557413	75388680	75389188	3UTR-3UTR
ENST00000555647	75389043	75389188	3UTR-3UTR
ENST00000354625	75374137	75374233	In-frame
ENST00000555647	75374137	75374233	In-frame
ENST00000557413	75374137	75374233	In-frame
ENST00000354625	75375803	75375893	In-frame
ENST00000555647	75375803	75375893	In-frame
ENST00000557413	75375803	75375893	In-frame
ENST00000354625	75376245	75376851	In-frame
ENST00000555647	75376245	75376851	In-frame
ENST00000557413	75376245	75376851	In-frame
ENST00000354625	75378496	75378544	In-frame
ENST00000555647	75378496	75378544	In-frame
ENST00000557413	75378496	75378544	In-frame
ENST00000555647	75385215	75385308	In-frame
ENST00000557413	75385215	75385308	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
ENST00000557413	75388680	75389188	3UTR-3UTR
ENST00000555647	75389043	75389188	3UTR-3UTR
ENST00000354625	75374137	75374233	In-frame
ENST00000555647	75374137	75374233	In-frame
ENST00000557413	75374137	75374233	In-frame
ENST00000354625	75375803	75375893	In-frame
ENST00000555647	75375803	75375893	In-frame
ENST00000557413	75375803	75375893	In-frame
ENST00000354625	75376245	75376851	In-frame
ENST00000555647	75376245	75376851	In-frame
ENST00000557413	75376245	75376851	In-frame
ENST00000354625	75378496	75378544	In-frame
ENST00000555647	75378496	75378544	In-frame
ENST00000557413	75378496	75378544	In-frame
ENST00000555647	75385215	75385308	In-frame
ENST00000557413	75385215	75385308	In-frame

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Infer the effects of exon skipping event on protein functional features for RPS6KL1

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
ENST00000354625	3033	549	75378496	75378544	876	923	130	146
ENST00000555647	3326	549	75385215	75385308	679	771	130	161
ENST00000557413	2442	549	75385215	75385308	1136	1228	130	161
ENST00000555647	3326	549	75378496	75378544	772	819	161	177
ENST00000557413	2442	549	75378496	75378544	1229	1276	161	177
ENST00000354625	3033	549	75376245	75376851	1057	1662	190	392
ENST00000555647	3326	549	75376245	75376851	953	1558	221	423
ENST00000557413	2442	549	75376245	75376851	1410	2015	221	423
ENST00000354625	3033	549	75375803	75375893	1663	1752	392	422
ENST00000555647	3326	549	75375803	75375893	1559	1648	423	453
ENST00000557413	2442	549	75375803	75375893	2016	2105	423	453
ENST00000354625	3033	549	75374137	75374233	1836	1931	450	482
ENST00000555647	3326	549	75374137	75374233	1732	1827	481	513
ENST00000557413	2442	549	75374137	75374233	2189	2284	481	513

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
ENST00000354625	3033	549	75378496	75378544	876	923	130	146
ENST00000555647	3326	549	75385215	75385308	679	771	130	161
ENST00000557413	2442	549	75385215	75385308	1136	1228	130	161
ENST00000555647	3326	549	75378496	75378544	772	819	161	177
ENST00000557413	2442	549	75378496	75378544	1229	1276	161	177
ENST00000354625	3033	549	75376245	75376851	1057	1662	190	392
ENST00000555647	3326	549	75376245	75376851	953	1558	221	423
ENST00000557413	2442	549	75376245	75376851	1410	2015	221	423
ENST00000354625	3033	549	75375803	75375893	1663	1752	392	422
ENST00000555647	3326	549	75375803	75375893	1559	1648	423	453
ENST00000557413	2442	549	75375803	75375893	2016	2105	423	453
ENST00000354625	3033	549	75374137	75374233	1836	1931	450	482
ENST00000555647	3326	549	75374137	75374233	1732	1827	481	513
ENST00000557413	2442	549	75374137	75374233	2189	2284	481	513

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
Q9Y6S9	130	146	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	161	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	161	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	146	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	161	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	161	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	146	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	151	159	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	151	159	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	161	177	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	161	177	177	177	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	177	177	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	161	177	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	161	177	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	190	392	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	190	392	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	190	392	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	190	392	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	190	392	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	221	423	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	221	423	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	221	423	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	221	423	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	392	422	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	392	422	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	392	422	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	392	422	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	423	453	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	423	453	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	423	453	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	423	453	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	423	453	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	423	453	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	450	482	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	450	482	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	450	482	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	481	513	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	481	513	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	481	513	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	481	513	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	481	513	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	481	513	145	539	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
Q9Y6S9	130	146	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	161	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	161	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	130	146	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	161	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	161	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	130	146	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	151	159	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	130	161	151	159	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	161	177	131	161	Alternative sequence	ID=VSP_036440;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9Y6S9	161	177	177	177	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	177	177	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	161	177	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	161	177	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	161	177	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	190	392	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	190	392	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	190	392	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	190	392	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	190	392	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	221	423	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	223	255	Alternative sequence	ID=VSP_017931;Note=In isoform 4. GTLWSHLLSQAHSRHSGLSSGSTQERMKAQLNP->EQAWGPLSAPQAFGVCRQPLKCGALAGRGGSRL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	221	423	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	221	423	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	221	423	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	221	423	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	221	423	332	332	Natural variant	ID=VAR_041067;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55871101,PMID:17344846
Q9Y6S9	392	422	412	412	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	392	422	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	392	422	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	392	422	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	423	453	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	423	453	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	423	453	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	423	453	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	423	453	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	423	453	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	450	482	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	450	482	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	450	482	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	481	513	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	481	513	256	549	Alternative sequence	ID=VSP_017932;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6S9	481	513	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	481	513	1	549	Chain	ID=PRO_0000232641;Note=Ribosomal protein S6 kinase-like 1
Q9Y6S9	481	513	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9Y6S9	481	513	145	539	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159

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SNVs in the skipped exons for RPS6KL1

- 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.

RPS6KL1_LIHC_exon_skip_114544_psi_boxplot.png
boxplot

- 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
UCEC	TCGA-D1-A17D-01	exon_skip_114544	75375804	75376851	75376484	75376484	Frame_Shift_Del	C	-	p.G344fs
UCEC	TCGA-D1-A17D-01	exon_skip_114547	75376246	75376851	75376484	75376484	Frame_Shift_Del	C	-	p.G344fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_114544	75375804	75376851	75376621	75376621	Frame_Shift_Del	G	-	p.Q299fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_114547	75376246	75376851	75376621	75376621	Frame_Shift_Del	G	-	p.Q299fs
LIHC	TCGA-DD-A1EA-01	exon_skip_114544	75375804	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.A405fs
LIHC	TCGA-DD-A1EA-01	exon_skip_114544	75375804	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.E405fs
LIHC	TCGA-DD-A1EA-01	exon_skip_114547	75376246	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.A405fs
LIHC	TCGA-DD-A1EA-01	exon_skip_114547	75376246	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.E405fs
LIHC	TCGA-DD-A1EE-01	exon_skip_114544	75375804	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.E405fs
LIHC	TCGA-DD-A1EE-01	exon_skip_114547	75376246	75376851	75376302	75376303	Frame_Shift_Ins	-	C	p.E405fs
SARC	TCGA-DX-A8BG-01	exon_skip_114539	75375804	75375864	75375803	75375803	Splice_Site	C	T	e7+1
SARC	TCGA-DX-A8BG-01	exon_skip_114542 exon_skip_114541	75375804	75375893	75375803	75375803	Splice_Site	C	T	e7+1
SARC	TCGA-DX-A8BG-01	exon_skip_114544	75375804	75376851	75375803	75375803	Splice_Site	C	T	e7+1

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A1EE-01
	Cancer type: LIHC
	ESID: exon_skip_114544
	Skipped exon start: 75375804
	Skipped exon end: 75376851
	Mutation start: 75376302
	Mutation end: 75376303
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.E405fs
	Sample: TCGA-DD-A1EE-01
	Cancer type: LIHC
	ESID: exon_skip_114547
	Skipped exon start: 75376246
	Skipped exon end: 75376851
	Mutation start: 75376302
	Mutation end: 75376303
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.E405fs
exon_skip_114544_LIHC_TCGA-DD-A1EE-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
HCT15_LARGE_INTESTINE	75374138	75374233	75374158	75374158	Missense_Mutation	C	A	p.A507S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75375804	75376851	75376255	75376255	Missense_Mutation	C	T	p.D421N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75376246	75376851	75376255	75376255	Missense_Mutation	C	T	p.D421N
NCIH650_LUNG	75375804	75376851	75376341	75376341	Missense_Mutation	C	A	p.W392L
NCIH650_LUNG	75376246	75376851	75376341	75376341	Missense_Mutation	C	A	p.W392L
NCIH716_LARGE_INTESTINE	75375804	75376851	75376434	75376434	Missense_Mutation	C	T	p.R361Q
NCIH716_LARGE_INTESTINE	75376246	75376851	75376434	75376434	Missense_Mutation	C	T	p.R361Q
NCIH2342_LUNG	75375804	75376851	75376449	75376449	Missense_Mutation	A	T	p.L356Q
NCIH2342_LUNG	75376246	75376851	75376449	75376449	Missense_Mutation	A	T	p.L356Q
HCC2450_LUNG	75375804	75376851	75376459	75376459	Missense_Mutation	C	G	p.G353R
HCC2450_LUNG	75376246	75376851	75376459	75376459	Missense_Mutation	C	G	p.G353R
BHY_UPPER_AERODIGESTIVE_TRACT	75375804	75376851	75376498	75376498	Missense_Mutation	C	G	p.G340R
BHY_UPPER_AERODIGESTIVE_TRACT	75376246	75376851	75376498	75376498	Missense_Mutation	C	G	p.G340R
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75375804	75376851	75376579	75376579	Missense_Mutation	A	T	p.S313T
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75376246	75376851	75376579	75376579	Missense_Mutation	A	T	p.S313T
LS180_LARGE_INTESTINE	75375804	75376851	75376612	75376612	Missense_Mutation	C	T	p.A302T
LS180_LARGE_INTESTINE	75376246	75376851	75376612	75376612	Missense_Mutation	C	T	p.A302T
K029AX_SKIN	75375804	75376851	75376665	75376665	Missense_Mutation	G	A	p.S284F
K029AX_SKIN	75376246	75376851	75376665	75376665	Missense_Mutation	G	A	p.S284F
TK10_KIDNEY	75375804	75376851	75376747	75376747	Missense_Mutation	G	A	p.L257F
TK10_KIDNEY	75376246	75376851	75376747	75376747	Missense_Mutation	G	A	p.L257F
HS229T_FIBROBLAST	75375804	75376851	75376771	75376771	Missense_Mutation	T	C	p.M249V
HS229T_FIBROBLAST	75376246	75376851	75376771	75376771	Missense_Mutation	T	C	p.M249V
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75385216	75385308	75385277	75385277	Missense_Mutation	C	T	p.R141H
KU1919_URINARY_TRACT	75385216	75385308	75385291	75385291	Missense_Mutation	C	G	p.R136S
TGW_AUTONOMIC_GANGLIA	75375804	75376851	75376621	75376621	Nonsense_Mutation	G	A	p.Q299*
TGW_AUTONOMIC_GANGLIA	75376246	75376851	75376621	75376621	Nonsense_Mutation	G	A	p.Q299*
IHH4_THYROID	75385216	75385308	75385240	75385240	Nonsense_Mutation	G	T	p.C153*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPS6KL1

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_114562	14	75388218:75388264:75388680:75389145:75389882:75389946	75388680:75389145	ENST00000556776.1	LGG	rs11159109	chr14:75389074	G/A	2.93e-03
exon_skip_114562	14	75388218:75388264:75388680:75389145:75389882:75389946	75388680:75389145	ENST00000556776.1	THCA	rs11159109	chr14:75389074	G/A	2.91e-03
exon_skip_114563	14	75388218:75388264:75388680:75389188:75389882:75389946	75388680:75389188	ENST00000553894.2,ENST00000557413.1	LGG	rs11159109	chr14:75389074	G/A	2.93e-03
exon_skip_114563	14	75388218:75388264:75388680:75389188:75389882:75389946	75388680:75389188	ENST00000553894.2,ENST00000557413.1	THCA	rs11159109	chr14:75389074	G/A	2.91e-03
exon_skip_114564	14	75388218:75388264:75389043:75389188:75389882:75389946	75389043:75389188	ENST00000555647.1	LGG	rs11159109	chr14:75389074	G/A	2.93e-03
exon_skip_114564	14	75388218:75388264:75389043:75389188:75389882:75389946	75389043:75389188	ENST00000555647.1	THCA	rs11159109	chr14:75389074	G/A	2.91e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KL1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KL1

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RelatedDrugs for RPS6KL1

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 RPS6KL1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for RPS6KL1

Exon skipping events across known transcript of Ensembl for RPS6KL1 from UCSC genome browser

Gene isoform structures and expression levels for RPS6KL1

Exon skipping events with PSIs in TCGA for RPS6KL1

Exon skipping events with PSIs in GTEx for RPS6KL1

Open reading frame (ORF) annotation in the exon skipping event for RPS6KL1

Infer the effects of exon skipping event on protein functional features for RPS6KL1

SNVs in the skipped exons for RPS6KL1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPS6KL1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KL1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS6KL1

RelatedDrugs for RPS6KL1

RelatedDiseases for RPS6KL1