ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SLC2A9

Gene summary

Gene information	Gene symbol	SLC2A9
	Gene ID	56606
	Gene name	solute carrier family 2 member 9
	Synonyms	GLUT9\|GLUTX\|UAQTL2\|URATv1
	Cytomap	4p16.1
	Type of gene	protein-coding
	Description	solute carrier family 2, facilitated glucose transporter member 9GLUT-9glucose transporter type 9human glucose transporter-like protein-9solute carrier family 2 (facilitated glucose transporter), member 9urate voltage-driven efflux transporter 1
	Modification date	20180527
	UniProtAcc	Q9NRM0
	Context	PubMed: SLC2A9 [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 SLC2A9 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 SLC2A9

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 SLC2A9

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_428425	4	9781490:9781689:9828043:9828224:9836504:9836632	9828043:9828224	ENSG00000109667.7	ENST00000503803.1
exon_skip_428429	4	9800701:9800865:9828043:9828224:9836504:9836632	9828043:9828224	ENSG00000109667.7	ENST00000503280.1,ENST00000512342.1
exon_skip_428432	4	9828043:9828224:9836504:9836632:9889190:9889266	9836504:9836632	ENSG00000109667.7	ENST00000309065.3,ENST00000503803.1,ENST00000506583.1,ENST00000512342.1,ENST00000264784.3
exon_skip_428433	4	9836504:9836632:9889190:9889266:9892233:9892335	9889190:9889266	ENSG00000109667.7	ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428443	4	9889190:9889266:9892233:9892335:9909858:9909969	9892233:9892335	ENSG00000109667.7	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428446	4	9892233:9892335:9909858:9909969:9922008:9922196	9909858:9909969	ENSG00000109667.7	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428447	4	9909858:9909969:9922008:9922196:9943536:9943669	9922008:9922196	ENSG00000109667.7	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428451	4	9922008:9922196:9943536:9943669:9982215:9982361	9943536:9943669	ENSG00000109667.7	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428452	4	9982215:9982361:9987292:9987417:9998404:9998565	9987292:9987417	ENSG00000109667.7	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428462	4	9987292:9987417:9998404:9998565:10020598:10020697	9998404:9998565	ENSG00000109667.7	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3
exon_skip_428473	4	9998404:9998565:10020598:10020697:10022903:10023107	10020598:10020697	ENSG00000109667.7	ENST00000264784.3
exon_skip_428474	4	9998404:9998565:10020598:10020697:10027527:10027630	10020598:10020697	ENSG00000109667.7	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1
exon_skip_428478	4	10020598:10020697:10027527:10027630:10041753:10041834	10027527:10027630	ENSG00000109667.7	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1
exon_skip_428480	4	10027527:10027630:10041753:10041888:10056456:10056499	10041753:10041888	ENSG00000109667.7	ENST00000506583.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SLC2A9

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_428425	4	9781490:9781689:9828043:9828224:9836504:9836632	9828043:9828224	ENSG00000109667.7	ENST00000503803.1
exon_skip_428429	4	9800701:9800865:9828043:9828224:9836504:9836632	9828043:9828224	ENSG00000109667.7	ENST00000512342.1,ENST00000503280.1
exon_skip_428432	4	9828043:9828224:9836504:9836632:9889190:9889266	9836504:9836632	ENSG00000109667.7	ENST00000503803.1,ENST00000512342.1,ENST00000264784.3,ENST00000506583.1,ENST00000309065.3
exon_skip_428433	4	9836504:9836632:9889190:9889266:9892233:9892335	9889190:9889266	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3
exon_skip_428443	4	9889190:9889266:9892233:9892335:9909858:9909969	9892233:9892335	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1
exon_skip_428446	4	9892233:9892335:9909858:9909969:9922008:9922196	9909858:9909969	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1
exon_skip_428447	4	9909858:9909969:9922008:9922196:9943536:9943669	9922008:9922196	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1
exon_skip_428451	4	9922008:9922196:9943536:9943669:9982215:9982361	9943536:9943669	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1
exon_skip_428452	4	9982215:9982361:9987292:9987417:9998404:9998565	9987292:9987417	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1,ENST00000513129.1
exon_skip_428462	4	9987292:9987417:9998404:9998565:10020598:10020697	9998404:9998565	ENSG00000109667.7	ENST00000264784.3,ENST00000506583.1,ENST00000309065.3,ENST00000505104.1,ENST00000513129.1
exon_skip_428473	4	9998404:9998565:10020598:10020697:10022903:10023107	10020598:10020697	ENSG00000109667.7	ENST00000264784.3
exon_skip_428474	4	9998404:9998565:10020598:10020697:10027527:10027630	10020598:10020697	ENSG00000109667.7	ENST00000506583.1,ENST00000309065.3,ENST00000505104.1,ENST00000513129.1
exon_skip_428480	4	10027527:10027630:10041753:10041888:10056456:10056499	10041753:10041888	ENSG00000109667.7	ENST00000506583.1

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 SLC2A9

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
ENST00000264784	9836504	9836632	Frame-shift
ENST00000264784	9889190	9889266	Frame-shift
ENST00000264784	9922008	9922196	Frame-shift
ENST00000264784	9943536	9943669	Frame-shift
ENST00000264784	9987292	9987417	Frame-shift
ENST00000264784	9998404	9998565	Frame-shift
ENST00000264784	9892233	9892335	In-frame
ENST00000264784	9909858	9909969	In-frame
ENST00000264784	10020598	10020697	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
ENST00000264784	9836504	9836632	Frame-shift
ENST00000264784	9889190	9889266	Frame-shift
ENST00000264784	9922008	9922196	Frame-shift
ENST00000264784	9943536	9943669	Frame-shift
ENST00000264784	9987292	9987417	Frame-shift
ENST00000264784	9998404	9998565	Frame-shift
ENST00000264784	9892233	9892335	In-frame
ENST00000264784	9909858	9909969	In-frame
ENST00000264784	10020598	10020697	In-frame

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Infer the effects of exon skipping event on protein functional features for SLC2A9

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
ENST00000264784	1867	540	10020598	10020697	205	303	50	83
ENST00000264784	1867	540	9909858	9909969	1057	1167	334	371
ENST00000264784	1867	540	9892233	9892335	1168	1269	371	405

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
ENST00000264784	1867	540	10020598	10020697	205	303	50	83
ENST00000264784	1867	540	9909858	9909969	1057	1167	334	371
ENST00000264784	1867	540	9892233	9892335	1168	1269	371	405

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
Q9NRM0	50	83	1	50	Alternative sequence	ID=VSP_034860;Note=In isoform 2. MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRK->MKLSKKDRGEDEESDSAKKKL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NRM0	50	83	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	50	83	75	75	Natural variant	ID=VAR_065772;Note=In RHUC2%3B reduced urate transport activity. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19926891;Dbxref=dbSNP:rs863225072,PMID:19926891
Q9NRM0	50	83	1	51	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	50	83	73	107	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	50	83	52	72	Transmembrane	Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	334	371	350	350	Natural variant	ID=VAR_012159;Note=Polymorphism%3B no effect on urate transport activity. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10860667,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:18327256,ECO:0000269\|PubMed:25
Q9NRM0	334	371	338	354	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	317	337	Transmembrane	Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	355	375	Transmembrane	Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	371	405	380	380	Natural variant	ID=VAR_065776;Note=In RHUC2%3B markedly reduced urate transport activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19026395;Dbxref=dbSNP:rs121908321,PMID:19026395
Q9NRM0	371	405	376	381	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	403	415	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	355	375	Transmembrane	Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	382	402	Transmembrane	Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9NRM0	50	83	1	50	Alternative sequence	ID=VSP_034860;Note=In isoform 2. MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRK->MKLSKKDRGEDEESDSAKKKL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NRM0	50	83	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	50	83	75	75	Natural variant	ID=VAR_065772;Note=In RHUC2%3B reduced urate transport activity. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19926891;Dbxref=dbSNP:rs863225072,PMID:19926891
Q9NRM0	50	83	1	51	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	50	83	73	107	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	50	83	52	72	Transmembrane	Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	334	371	350	350	Natural variant	ID=VAR_012159;Note=Polymorphism%3B no effect on urate transport activity. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10860667,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:18327256,ECO:0000269\|PubMed:25
Q9NRM0	334	371	338	354	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	317	337	Transmembrane	Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	334	371	355	375	Transmembrane	Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	1	540	Chain	ID=PRO_0000050378;Note=Solute carrier family 2%2C facilitated glucose transporter member 9
Q9NRM0	371	405	380	380	Natural variant	ID=VAR_065776;Note=In RHUC2%3B markedly reduced urate transport activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19026395;Dbxref=dbSNP:rs121908321,PMID:19026395
Q9NRM0	371	405	376	381	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	403	415	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	355	375	Transmembrane	Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRM0	371	405	382	402	Transmembrane	Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for SLC2A9

- 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_428474 exon_skip_428473	10020599	10020697	10020605	10020605	Frame_Shift_Del	G	-	p.P52fs
LIHC	TCGA-DD-A39Y-01	exon_skip_428474 exon_skip_428473	10020599	10020697	10020605	10020605	Frame_Shift_Del	G	-	p.P52fs
LIHC	TCGA-DD-A39Y-01	exon_skip_428425 exon_skip_428429	9828044	9828224	9828133	9828133	Frame_Shift_Del	T	-	p.N475fs
BRCA	TCGA-BH-A1FM-01	exon_skip_428432	9836505	9836632	9836533	9836546	Frame_Shift_Del	GCAAAGTTGGAGAG	-	p.L460fs
LIHC	TCGA-DD-A39Y-01	exon_skip_428433	9889191	9889266	9889255	9889255	Frame_Shift_Del	G	-	p.P380fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_428433	9889191	9889266	9889255	9889255	Frame_Shift_Del	G	-	p.P380fs
LIHC	TCGA-DD-A39Y-01	exon_skip_428446	9909859	9909969	9909937	9909937	Frame_Shift_Del	T	-	p.K316fs
LUAD	TCGA-64-1676-01	exon_skip_428478	10027528	10027630	10027563	10027563	Nonsense_Mutation	C	A	p.E10*
SKCM	TCGA-D3-A8GQ-06	exon_skip_428432	9836505	9836632	9836507	9836507	Nonsense_Mutation	G	A	p.Q444*
UCEC	TCGA-AP-A0LM-01	exon_skip_428452	9987293	9987417	9987320	9987320	Nonsense_Mutation	C	A	p.G170*
PAAD	TCGA-IB-7651-01	exon_skip_428478	10027528	10027630	10027631	10027631	Splice_Site	C	A	.
STAD	TCGA-CG-4305-01	exon_skip_428447	9922009	9922196	9922008	9922008	Splice_Site	C	G	.
STAD	TCGA-CG-4305-01	exon_skip_428447	9922009	9922196	9922008	9922008	Splice_Site	C	G	p.A334_splice

- 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
DKMG_CENTRAL_NERVOUS_SYSTEM	10027528	10027630	10027586	10027586	Frame_Shift_Del	T	-	p.K2fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10020599	10020697	10020640	10020640	Missense_Mutation	G	A	p.L70F
SUM149PT_BREAST	10020599	10020697	10020663	10020663	Missense_Mutation	G	A	p.A62V
SNU81_LARGE_INTESTINE	10027528	10027630	10027534	10027534	Missense_Mutation	C	A	p.K19N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9828044	9828224	9828094	9828094	Missense_Mutation	C	T	p.R517K
SNU1040_LARGE_INTESTINE	9828044	9828224	9828176	9828176	Missense_Mutation	T	C	p.T490A
SNU1040_LARGE_INTESTINE	9836505	9836632	9836579	9836579	Missense_Mutation	C	T	p.A449T
PECAPJ49_UPPER_AERODIGESTIVE_TRACT	9836505	9836632	9836585	9836585	Missense_Mutation	G	A	p.R447W
HLE_LIVER	9889191	9889266	9889247	9889247	Missense_Mutation	G	C	p.P412R
HMC18_BREAST	9892234	9892335	9892253	9892253	Missense_Mutation	G	C	p.T399S
UMUC6_URINARY_TRACT	9909859	9909969	9909882	9909882	Missense_Mutation	C	T	p.E364K
EGI1_BILIARY_TRACT	9909859	9909969	9909933	9909933	Missense_Mutation	C	A	p.G347W
NCIH596_LUNG	9922009	9922196	9922039	9922039	Missense_Mutation	C	A	p.M324I
SNU1197_LARGE_INTESTINE	9922009	9922196	9922053	9922053	Missense_Mutation	C	T	p.V320M
SNGM_ENDOMETRIUM	9922009	9922196	9922070	9922070	Missense_Mutation	C	T	p.R314H
SNU761_LIVER	9922009	9922196	9922076	9922076	Missense_Mutation	T	C	p.Y312C
SW1116_LARGE_INTESTINE	9922009	9922196	9922131	9922131	Missense_Mutation	G	A	p.R294C
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9943537	9943669	9943563	9943563	Missense_Mutation	T	G	p.K263T
HCC33_LUNG	9943537	9943669	9943568	9943568	Missense_Mutation	C	A	p.L261F
LS411N_LARGE_INTESTINE	9987293	9987417	9987308	9987308	Missense_Mutation	T	C	p.M174V
M14_SKIN	9987293	9987417	9987391	9987391	Missense_Mutation	C	T	p.G146E
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9998405	9998565	9998457	9998457	Missense_Mutation	C	T	p.G120S
NCIH1573_LUNG	9998405	9998565	9998464	9998464	Missense_Mutation	G	T	p.F117L
EN_ENDOMETRIUM	9998405	9998565	9998474	9998474	Missense_Mutation	A	G	p.V114A
RERFLCKJ_LUNG	9998405	9998565	9998508	9998508	Missense_Mutation	G	C	p.P103A
SISO_CERVIX	9943537	9943669	9943658	9943658	Nonsense_Mutation	C	T	p.W231*
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9943537	9943669	9943658	9943658	Nonsense_Mutation	C	T	p.W231*
H4_CENTRAL_NERVOUS_SYSTEM	9998405	9998565	9998523	9998523	Nonsense_Mutation	C	A	p.G98*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC2A9

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_428462	4	9987292:9987417:9998404:9998565:10020598:10020697	9998404:9998565	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3	KIRP	rs13113918	chr4:9998493	A/G	4.06e-11
exon_skip_428462	4	9987292:9987417:9998404:9998565:10020598:10020697	9998404:9998565	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3	KIRP	rs10939650	chr4:9998440	C/T	7.18e-04
exon_skip_428452	4	9982215:9982361:9987292:9987417:9998404:9998565	9987292:9987417	ENST00000513129.1,ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3	KIRP	rs3733589	chr4:9987324	A/G	2.13e-06
exon_skip_428447	4	9909858:9909969:9922008:9922196:9943536:9943669	9922008:9922196	ENST00000505104.1,ENST00000309065.3,ENST00000506583.1,ENST00000264784.3	KIRP	rs3733591	chr4:9922130	C/T	1.14e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC2A9

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC2A9

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RelatedDrugs for SLC2A9

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 SLC2A9

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SLC2A9	C2677549	Hypouricemia, Renal, 2	3	CTD_human;UNIPROT
SLC2A9	C0018099	Gout	2	CTD_human
SLC2A9	C0473219	Renal hypouricemia	2	CTD_human;ORPHANET
SLC2A9	C0740394	Hyperuricemia	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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