ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GRK6

Gene summary

Gene information	Gene symbol	GRK6
	Gene ID	2870
	Gene name	G protein-coupled receptor kinase 6
	Synonyms	GPRK6
	Cytomap	5q35.3
	Type of gene	protein-coding
	Description	G protein-coupled receptor kinase 6
	Modification date	20180519
	UniProtAcc	P43250
	Context	PubMed: GRK6 [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 GRK6 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 GRK6

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 GRK6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_440091	5	176857872:176857968:176858995:176859108:176859233:176859258	176858995:176859108	ENSG00000198055.6	ENST00000506296.1,ENST00000502598.1,ENST00000511244.1,ENST00000507633.1,ENST00000393576.3,ENST00000528793.1,ENST00000355472.5,ENST00000355958.5
exon_skip_440093	5	176859233:176859311:176859706:176859807:176860147:176860190	176859706:176859807	ENSG00000198055.6	ENST00000506296.1,ENST00000511244.1,ENST00000507633.1,ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5
exon_skip_440095	5	176860147:176860240:176860347:176860411:176860536:176860666	176860347:176860411	ENSG00000198055.6	ENST00000506296.1,ENST00000508705.1,ENST00000507633.1,ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENSG00000198055.6	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GRK6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_440091	5	176857872:176857968:176858995:176859108:176859233:176859258	176858995:176859108	ENSG00000198055.6	ENST00000502598.1,ENST00000506296.1,ENST00000511244.1,ENST00000355472.5,ENST00000507633.1,ENST00000393576.3,ENST00000355958.5,ENST00000528793.1
exon_skip_440093	5	176859233:176859311:176859706:176859807:176860147:176860190	176859706:176859807	ENSG00000198055.6	ENST00000506296.1,ENST00000511244.1,ENST00000355472.5,ENST00000507633.1,ENST00000393576.3,ENST00000355958.5,ENST00000528793.1,ENST00000515666.1
exon_skip_440095	5	176860147:176860240:176860347:176860411:176860536:176860666	176860347:176860411	ENSG00000198055.6	ENST00000506296.1,ENST00000355472.5,ENST00000507633.1,ENST00000393576.3,ENST00000355958.5,ENST00000528793.1,ENST00000515666.1,ENST00000508705.1
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENSG00000198055.6	ENST00000355472.5,ENST00000393576.3,ENST00000355958.5,ENST00000528793.1,ENST00000515666.1

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 GRK6

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
ENST00000355472	176858995	176859108	Frame-shift
ENST00000355472	176859706	176859807	Frame-shift
ENST00000355472	176860347	176860411	Frame-shift
ENST00000355472	176863393	176863531	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
ENST00000355472	176858995	176859108	Frame-shift
ENST00000355472	176859706	176859807	Frame-shift
ENST00000355472	176860347	176860411	Frame-shift
ENST00000355472	176863393	176863531	In-frame

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Infer the effects of exon skipping event on protein functional features for GRK6

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
ENST00000355472	2956	576	176863393	176863531	1435	1572	422	468

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
ENST00000355472	2956	576	176863393	176863531	1435	1572	422	468

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
P43250	422	468	435	437	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	1	576	Chain	ID=PRO_0000085974;Note=G protein-coupled receptor kinase 6
P43250	422	468	186	448	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P43250	422	468	449	514	Domain	Note=AGC-kinase C-terminal
P43250	422	468	414	423	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	428	430	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	438	443	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	446	448	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	453	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX

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
P43250	422	468	435	437	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	1	576	Chain	ID=PRO_0000085974;Note=G protein-coupled receptor kinase 6
P43250	422	468	186	448	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P43250	422	468	449	514	Domain	Note=AGC-kinase C-terminal
P43250	422	468	414	423	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	428	430	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	438	443	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	446	448	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX
P43250	422	468	453	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ACX

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SNVs in the skipped exons for GRK6

- 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_440093	176859707	176859807	176859721	176859721	Frame_Shift_Del	C	-	p.I118fs
LIHC	TCGA-DD-A3A0-01	exon_skip_440093	176859707	176859807	176859730	176859730	Frame_Shift_Del	C	-	p.V121fs
LIHC	TCGA-DD-A39Y-01	exon_skip_440095	176860348	176860411	176860406	176860406	Frame_Shift_Del	G	-	p.G198fs
LIHC	TCGA-BC-A3KG-01	exon_skip_440099	176863394	176863531	176863423	176863423	Frame_Shift_Del	G	-	p.L432fs

- 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
LS411N_LARGE_INTESTINE	176859707	176859807	176859789	176859789	Frame_Shift_Del	T	-	p.L141fs
MDAPCA2B_PROSTATE	176858996	176859108	176859019	176859019	Missense_Mutation	G	A	p.E58K
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	176858996	176859108	176859022	176859022	Missense_Mutation	C	T	p.R59W
MCC26_SKIN	176858996	176859108	176859052	176859052	Missense_Mutation	G	A	p.E69K
LXF289_LUNG	176858996	176859108	176859100	176859100	Missense_Mutation	G	C	p.D85H
EMCBAC1_LUNG	176859707	176859807	176859735	176859735	Missense_Mutation	G	A	p.R123Q
SNU1040_LARGE_INTESTINE	176863394	176863531	176863446	176863446	Missense_Mutation	G	A	p.R440H
RKO_LARGE_INTESTINE	176863394	176863531	176863517	176863517	Missense_Mutation	C	T	p.P464S
JEG3_PLACENTA	176863394	176863531	176863518	176863518	Missense_Mutation	C	T	p.P464L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRK6

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_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	COAD	rs1130857	chr5:176863519	G/C	1.75e-04
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	COAD	rs1130857	chr5:176863519	G/C	4.72e-04
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	BLCA	rs1130857	chr5:176863519	G/C	2.06e-03
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	BRCA	rs1130857	chr5:176863519	G/C	2.35e-06
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	BRCA	rs1130857	chr5:176863519	G/C	5.57e-05
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	LGG	rs1130857	chr5:176863519	G/C	6.15e-05
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	LUAD	rs1130857	chr5:176863519	G/C	5.12e-04
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	LUSC	rs1130857	chr5:176863519	G/C	2.07e-07
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	LUSC	rs1130857	chr5:176863519	G/C	3.63e-06
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	OV	rs1130857	chr5:176863519	G/C	1.19e-03
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	SARC	rs1130857	chr5:176863519	G/C	1.54e-03
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	TGCT	rs1130857	chr5:176863519	G/C	1.34e-05
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	TGCT	rs1130857	chr5:176863519	G/C	9.25e-05
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	STAD	rs1130857	chr5:176863519	G/C	2.77e-04
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	STAD	rs1130857	chr5:176863519	G/C	4.90e-04
exon_skip_440099	5	176863073:176863282:176863393:176863531:176867700:176867838	176863393:176863531	ENST00000393576.3,ENST00000528793.1,ENST00000515666.1,ENST00000355472.5,ENST00000355958.5	THCA	rs1130857	chr5:176863519	G/C	6.05e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRK6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRK6

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RelatedDrugs for GRK6

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 GRK6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GRK6	C0036341	Schizophrenia	2	PSYGENET
GRK6	C0003873	Rheumatoid Arthritis	1	CTD_human

	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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