ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SYMPK

Gene summary

Gene information	Gene symbol	SYMPK
	Gene ID	8189
	Gene name	symplekin
	Synonyms	SPK\|SYM
	Cytomap	19q13.32
	Type of gene	protein-coding
	Description	symplekin
	Modification date	20180519
	UniProtAcc	Q92797
	Context	PubMed: SYMPK [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
SYMPK	GO:0035307	positive regulation of protein dephosphorylation	20861839

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Exon skipping events across known transcript of Ensembl for SYMPK 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 SYMPK

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 SYMPK

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_319718	19	46319153:46319441:46319739:46319835:46320055:46320232	46319739:46319835	ENSG00000125755.14	ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000598155.1,ENST00000598364.1
exon_skip_319720	19	46319153:46319441:46319739:46319872:46320055:46320232	46319739:46319872	ENSG00000125755.14	ENST00000596824.1
exon_skip_319724	19	46319740:46319835:46320055:46320232:46321216:46321271	46320055:46320232	ENSG00000125755.14	ENST00000598329.2,ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000598155.1
exon_skip_319725	19	46320055:46320232:46321216:46321404:46324641:46324743	46321216:46321404	ENSG00000125755.14	ENST00000598329.2,ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000598155.1
exon_skip_319731	19	46324641:46324743:46326013:46326104:46326629:46326730	46326013:46326104	ENSG00000125755.14	ENST00000598329.2,ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000598155.1,ENST00000599460.1
exon_skip_319735	19	46326013:46326104:46326629:46326730:46327024:46327133	46326629:46326730	ENSG00000125755.14	ENST00000598329.2,ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000598155.1,ENST00000599460.1
exon_skip_319743	19	46327024:46327133:46328428:46328589:46329483:46329631	46328428:46328589	ENSG00000125755.14	ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319747	19	46331094:46331176:46332227:46332463:46333311:46333462	46332227:46332463	ENSG00000125755.14	ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319749	19	46331094:46331176:46332312:46332463:46333311:46333462	46332312:46332463	ENSG00000125755.14	ENST00000600237.1
exon_skip_319756	19	46333311:46333462:46334641:46334846:46338335:46338486	46334641:46334846	ENSG00000125755.14	ENST00000593504.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319758	19	46338353:46338486:46341718:46341873:46345507:46345747	46341718:46341873	ENSG00000125755.14	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000593899.1,ENST00000599814.1,ENST00000599460.1
exon_skip_319759	19	46341850:46341873:46345507:46345747:46347287:46347458	46345507:46345747	ENSG00000125755.14	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319760	19	46345507:46345747:46347287:46347458:46351009:46351259	46347287:46347458	ENSG00000125755.14	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319762	19	46351009:46351259:46352007:46352134:46355569:46355643	46352007:46352134	ENSG00000125755.14	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1
exon_skip_319766	19	46355739:46355793:46357432:46357765:46366315:46366388	46357432:46357765	ENSG00000125755.14	ENST00000593959.1
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENSG00000125755.14	ENST00000594293.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SYMPK

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_319718	19	46319153:46319441:46319739:46319835:46320055:46320232	46319739:46319835	ENSG00000125755.14	ENST00000598155.1,ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000598364.1
exon_skip_319720	19	46319153:46319441:46319739:46319872:46320055:46320232	46319739:46319872	ENSG00000125755.14	ENST00000596824.1
exon_skip_319724	19	46319740:46319835:46320055:46320232:46321216:46321271	46320055:46320232	ENSG00000125755.14	ENST00000598155.1,ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000598329.2
exon_skip_319725	19	46320055:46320232:46321216:46321404:46324641:46324743	46321216:46321404	ENSG00000125755.14	ENST00000598155.1,ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000598329.2
exon_skip_319731	19	46324641:46324743:46326013:46326104:46326629:46326730	46326013:46326104	ENSG00000125755.14	ENST00000598155.1,ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000598329.2,ENST00000599460.1,ENST00000599814.1
exon_skip_319735	19	46326013:46326104:46326629:46326730:46327024:46327133	46326629:46326730	ENSG00000125755.14	ENST00000598155.1,ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000598329.2,ENST00000599460.1,ENST00000599814.1
exon_skip_319743	19	46327024:46327133:46328428:46328589:46329483:46329631	46328428:46328589	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1
exon_skip_319747	19	46331094:46331176:46332227:46332463:46333311:46333462	46332227:46332463	ENSG00000125755.14	ENST00000245934.7,ENST00000599460.1,ENST00000599814.1
exon_skip_319749	19	46331094:46331176:46332312:46332463:46333311:46333462	46332312:46332463	ENSG00000125755.14	ENST00000600237.1
exon_skip_319756	19	46333311:46333462:46334641:46334846:46338335:46338486	46334641:46334846	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1
exon_skip_319758	19	46338353:46338486:46341718:46341873:46345507:46345747	46341718:46341873	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1,ENST00000598896.1,ENST00000593899.1
exon_skip_319759	19	46341850:46341873:46345507:46345747:46347287:46347458	46345507:46345747	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1,ENST00000598896.1
exon_skip_319760	19	46345507:46345747:46347287:46347458:46351009:46351259	46347287:46347458	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1,ENST00000598896.1
exon_skip_319762	19	46351009:46351259:46352007:46352134:46355569:46355643	46352007:46352134	ENSG00000125755.14	ENST00000593504.1,ENST00000245934.7,ENST00000600237.1,ENST00000599460.1,ENST00000599814.1,ENST00000598896.1
exon_skip_319766	19	46355739:46355793:46357432:46357765:46366315:46366388	46357432:46357765	ENSG00000125755.14	ENST00000593959.1
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENSG00000125755.14	ENST00000594293.1

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 SYMPK

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
ENST00000245934	46321216	46321404	Frame-shift
ENST00000245934	46326013	46326104	Frame-shift
ENST00000245934	46326629	46326730	Frame-shift
ENST00000245934	46328428	46328589	Frame-shift
ENST00000245934	46332227	46332463	Frame-shift
ENST00000245934	46334641	46334846	Frame-shift
ENST00000245934	46341718	46341873	Frame-shift
ENST00000245934	46352007	46352134	Frame-shift
ENST00000245934	46319739	46319835	In-frame
ENST00000245934	46320055	46320232	In-frame
ENST00000245934	46345507	46345747	In-frame
ENST00000245934	46347287	46347458	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
ENST00000245934	46321216	46321404	Frame-shift
ENST00000245934	46326013	46326104	Frame-shift
ENST00000245934	46326629	46326730	Frame-shift
ENST00000245934	46328428	46328589	Frame-shift
ENST00000245934	46332227	46332463	Frame-shift
ENST00000245934	46334641	46334846	Frame-shift
ENST00000245934	46341718	46341873	Frame-shift
ENST00000245934	46352007	46352134	Frame-shift
ENST00000245934	46319739	46319835	In-frame
ENST00000245934	46320055	46320232	In-frame
ENST00000245934	46345507	46345747	In-frame
ENST00000245934	46347287	46347458	In-frame

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

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
ENST00000245934	4212	1274	46347287	46347458	922	1092	225	282
ENST00000245934	4212	1274	46345507	46345747	1093	1332	282	362
ENST00000245934	4212	1274	46320055	46320232	3327	3503	1027	1086
ENST00000245934	4212	1274	46319739	46319835	3504	3599	1086	1118

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
ENST00000245934	4212	1274	46347287	46347458	922	1092	225	282
ENST00000245934	4212	1274	46345507	46345747	1093	1332	282	362
ENST00000245934	4212	1274	46320055	46320232	3327	3503	1027	1086
ENST00000245934	4212	1274	46319739	46319835	3504	3599	1086	1118

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
Q92797	225	282	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	225	282	225	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	250	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	271	283	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	227	266	Repeat	Note=HEAT 5
Q92797	282	362	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	282	362	361	361	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25114211;Dbxref=PMID:25114211
Q92797	282	362	361	361	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|P
Q92797	282	362	271	283	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	287	289	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ODS
Q92797	282	362	291	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	294	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	312	317	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	318	327	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	332	337	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ODS
Q92797	282	362	345	360	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92797	1027	1086	673	1274	Alternative sequence	ID=VSP_014843;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q92797	1027	1086	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	1086	1118	673	1274	Alternative sequence	ID=VSP_014843;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q92797	1086	1118	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin

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
Q92797	225	282	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	225	282	225	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	250	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	271	283	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	225	282	227	266	Repeat	Note=HEAT 5
Q92797	282	362	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	282	362	361	361	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25114211;Dbxref=PMID:25114211
Q92797	282	362	361	361	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|P
Q92797	282	362	271	283	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	287	289	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ODS
Q92797	282	362	291	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	294	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	312	317	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	318	327	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	332	337	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2T
Q92797	282	362	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ODS
Q92797	282	362	345	360	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92797	1027	1086	673	1274	Alternative sequence	ID=VSP_014843;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q92797	1027	1086	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin
Q92797	1086	1118	673	1274	Alternative sequence	ID=VSP_014843;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q92797	1086	1118	1	1274	Chain	ID=PRO_0000072385;Note=Symplekin

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SNVs in the skipped exons for SYMPK

- 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-A3A1-01	exon_skip_319724	46320056	46320232	46320137	46320137	Frame_Shift_Del	C	-	p.Q1060fs
UCS	TCGA-NF-A4X2-01	exon_skip_319724	46320056	46320232	46320139	46320139	Frame_Shift_Del	G	-	p.Q1060fs
BLCA	TCGA-UY-A9PD-01	exon_skip_319725	46321217	46321404	46321239	46321239	Frame_Shift_Del	A	-	p.L1020fs
LIHC	TCGA-DD-A39Y-01	exon_skip_319725	46321217	46321404	46321352	46321352	Frame_Shift_Del	G	-	p.A982fs
LIHC	TCGA-DD-A3A1-01	exon_skip_319731	46326014	46326104	46326060	46326060	Frame_Shift_Del	G	-	p.P915fs
LIHC	TCGA-DD-A1EG-01	exon_skip_319747	46332228	46332463	46332356	46332356	Frame_Shift_Del	G	-	p.A619fs
LIHC	TCGA-DD-A1EG-01	exon_skip_319749	46332313	46332463	46332356	46332356	Frame_Shift_Del	G	-	p.A619fs
LIHC	TCGA-DD-A39Y-01	exon_skip_319747	46332228	46332463	46332361	46332361	Frame_Shift_Del	G	-	p.L618fs
LIHC	TCGA-DD-A39Y-01	exon_skip_319749	46332313	46332463	46332361	46332361	Frame_Shift_Del	G	-	p.L618fs
LIHC	TCGA-DD-A1EG-01	exon_skip_319756	46334642	46334846	46334706	46334706	Frame_Shift_Del	G	-	p.L512fs
LIHC	TCGA-DD-A3A0-01	exon_skip_319756	46334642	46334846	46334706	46334706	Frame_Shift_Del	G	-	p.L512fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_319758	46341719	46341873	46341859	46341859	Frame_Shift_Del	C	-	p.E368fs
LIHC	TCGA-DD-A3A0-01	exon_skip_319759	46345508	46345747	46345609	46345609	Frame_Shift_Del	C	-	p.G329fs
LIHC	TCGA-DD-A39Y-01	exon_skip_319760	46347288	46347458	46347357	46347357	Frame_Shift_Del	G	-	p.L260fs
UCEC	TCGA-BG-A0M4-01	exon_skip_319756	46334642	46334846	46334705	46334706	Frame_Shift_Ins	-	G	p.L512fs
BRCA	TCGA-BH-A0BZ-01	exon_skip_319758	46341719	46341873	46341763	46341763	Nonsense_Mutation	C	A	p.E400*
BLCA	TCGA-DK-A3IT-01	exon_skip_319759	46345508	46345747	46345718	46345718	Nonsense_Mutation	G	A	p.Q293*
UCEC	TCGA-AX-A0J1-01	exon_skip_319762	46352008	46352134	46352130	46352130	Nonsense_Mutation	G	A	p.R102*
BRCA	TCGA-A8-A0A7-01	exon_skip_319758	46341719	46341873	46341874	46341874	Splice_Site	C	G	e9-1

- 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
22RV1_PROSTATE	46321217	46321404	46321318	46321318	Frame_Shift_Del	G	-	p.L994fs
CW2_LARGE_INTESTINE	46319740	46319872	46319774	46319774	Missense_Mutation	T	A	p.E1107V
CW2_LARGE_INTESTINE	46319740	46319835	46319774	46319774	Missense_Mutation	T	A	p.E1107V
SNU1040_LARGE_INTESTINE	46319740	46319872	46319816	46319816	Missense_Mutation	G	T	p.S1093Y
SNU1040_LARGE_INTESTINE	46319740	46319835	46319816	46319816	Missense_Mutation	G	T	p.S1093Y
NCIH1819_LUNG	46319740	46319872	46319822	46319822	Missense_Mutation	G	A	p.P1091L
NCIH1819_LUNG	46319740	46319835	46319822	46319822	Missense_Mutation	G	A	p.P1091L
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46320056	46320232	46320061	46320061	Missense_Mutation	G	A	p.H1085Y
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46320056	46320232	46320106	46320106	Missense_Mutation	C	T	p.E1070K
JHUEM1_ENDOMETRIUM	46320056	46320232	46320124	46320124	Missense_Mutation	C	T	p.V1064I
MM386_SKIN	46320056	46320232	46320126	46320126	Missense_Mutation	G	A	p.A1063V
HEC6_ENDOMETRIUM	46320056	46320232	46320205	46320205	Missense_Mutation	C	T	p.G1037S
BICR18_UPPER_AERODIGESTIVE_TRACT	46321217	46321404	46321237	46321237	Missense_Mutation	A	C	p.S1021A
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46321217	46321404	46321269	46321269	Missense_Mutation	G	A	p.P1010L
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46321217	46321404	46321270	46321270	Missense_Mutation	G	A	p.P1010S
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46321217	46321404	46321287	46321287	Missense_Mutation	T	A	p.Q1004L
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46321217	46321404	46321384	46321384	Missense_Mutation	C	T	p.E972K
SNUC5_LARGE_INTESTINE	46326014	46326104	46326026	46326026	Missense_Mutation	C	A	p.G927C
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46326014	46326104	46326062	46326062	Missense_Mutation	G	C	p.P915A
NCIH441_LUNG	46326630	46326730	46326650	46326650	Missense_Mutation	C	A	p.V894L
HEC6_ENDOMETRIUM	46326630	46326730	46326665	46326665	Missense_Mutation	G	A	p.R889C
CASKI_CERVIX	46326630	46326730	46326682	46326682	Missense_Mutation	T	A	p.K883M
S117_SOFT_TISSUE	46326630	46326730	46326695	46326695	Missense_Mutation	C	G	p.D879H
HEC6_ENDOMETRIUM	46328429	46328589	46328488	46328488	Missense_Mutation	C	T	p.V811M
BT474_BREAST	46332228	46332463	46332286	46332286	Missense_Mutation	C	T	p.E643K
RKO_LARGE_INTESTINE	46332228	46332463	46332306	46332306	Missense_Mutation	G	A	p.S636L
MZ7MEL_SKIN	46334642	46334846	46334744	46334744	Missense_Mutation	G	A	p.A499V
SNU1040_LARGE_INTESTINE	46341719	46341873	46341729	46341729	Missense_Mutation	A	G	p.V411A
SNU175_LARGE_INTESTINE	46341719	46341873	46341741	46341741	Missense_Mutation	G	A	p.T407M
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46341719	46341873	46341744	46341744	Missense_Mutation	A	C	p.L406R
SNU1040_LARGE_INTESTINE	46341719	46341873	46341777	46341777	Missense_Mutation	G	A	p.T395M
KON_UPPER_AERODIGESTIVE_TRACT	46345508	46345747	46345537	46345537	Missense_Mutation	G	A	p.S353L
MEWO_SKIN	46345508	46345747	46345654	46345654	Missense_Mutation	G	A	p.S314F
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46345508	46345747	46345677	46345677	Missense_Mutation	C	G	p.L306F
HEC108_ENDOMETRIUM	46347288	46347458	46347306	46347306	Missense_Mutation	C	T	p.A277T
FTC133_THYROID	46347288	46347458	46347368	46347368	Missense_Mutation	G	A	p.A256V
SNU761_LIVER	46347288	46347458	46347434	46347434	Missense_Mutation	G	A	p.A234V
NCIH1048_LUNG	46347288	46347458	46347456	46347456	Missense_Mutation	C	T	p.V227M
HT115_LARGE_INTESTINE	46352008	46352134	46352085	46352085	Missense_Mutation	G	A	p.L117F
MFE280_ENDOMETRIUM	46357433	46357765	46357656	46357656	Missense_Mutation	G	A	p.S33L
BFTC909_KIDNEY	46357433	46357765	46357672	46357672	Missense_Mutation	C	T	p.D28N
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46319740	46319872	46319799	46319799	Nonsense_Mutation	C	A	p.E1099*
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46319740	46319835	46319799	46319799	Nonsense_Mutation	C	A	p.E1099*
NCIH1155_LUNG	46341719	46341873	46341799	46341799	Nonsense_Mutation	G	A	p.Q388*
NCIH513_PLEURA	46328429	46328589	46328429	46328429	Splice_Site	C	G	p.P830P
SKNAS_AUTONOMIC_GANGLIA	46328429	46328589	46328588	46328588	Splice_Site	C	T	p.E777E

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

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_319762	19	46351009:46351259:46352007:46352134:46355569:46355643	46352007:46352134	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1	OV	rs2303014	chr19:46352122	A/G	1.55e-06
exon_skip_319762	19	46351009:46351259:46352007:46352134:46355569:46355643	46352007:46352134	ENST00000593504.1,ENST00000598896.1,ENST00000600237.1,ENST00000245934.7,ENST00000599814.1,ENST00000599460.1	OV	rs2303014	chr19:46352122	A/G	1.55e-06
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	BLCA	rs113577760	chr19:46365177	T/C	1.81e-03
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	BLCA	rs113577760	chr19:46365177	T/C	1.81e-03
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	HNSC	rs113577760	chr19:46365177	T/C	2.18e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	HNSC	rs113577760	chr19:46365177	T/C	2.18e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	PRAD	rs113577760	chr19:46365177	T/C	9.01e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	PRAD	rs113577760	chr19:46365177	T/C	9.01e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	TGCT	rs113577760	chr19:46365177	T/C	9.83e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	TGCT	rs113577760	chr19:46365177	T/C	9.83e-04
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	STAD	rs113577760	chr19:46365177	T/C	1.86e-03
exon_skip_319769	19	46357648:46357765:46365157:46365285:46366315:46366388	46365157:46365285	ENST00000594293.1	STAD	rs113577760	chr19:46365177	T/C	1.86e-03

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

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

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RelatedDrugs for SYMPK

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 SYMPK

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SYMPK	C0038356	Stomach Neoplasms	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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