ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SLC14A1

Gene summary

Gene information	Gene symbol	SLC14A1
	Gene ID	6563
	Gene name	solute carrier family 14 member 1 (Kidd blood group)
	Synonyms	HUT11\|HsT1341\|JK\|RACH1\|RACH2\|UT-B1\|UT1\|UTE
	Cytomap	18q12.3
	Type of gene	protein-coding
	Description	urea transporter 1Kidd blood groupKidd blood group antigenSLC14A1 JKsolute carrier family 14 (urea transporter), member 1 (Kidd blood group)urea transporter JK glycoproteinurea transporter, erythrocyteurea transporter-B1
	Modification date	20180409
	UniProtAcc	Q13336
	Context	PubMed: SLC14A1 [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
SLC14A1	GO:0071918	urea transmembrane transport	19865084

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Exon skipping events across known transcript of Ensembl for SLC14A1 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 SLC14A1

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 SLC14A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_296667	18	43304160:43304238:43304914:43304978:43314238:43314297	43304914:43304978	ENSG00000141469.12	ENST00000535474.1
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENSG00000141469.12	ENST00000415427.3,ENST00000588179.1
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENSG00000141469.12	ENST00000502059.2
exon_skip_296684	18	43304914:43304978:43307296:43307383:43310264:43310436	43307296:43307383	ENSG00000141469.12	ENST00000586951.1
exon_skip_296690	18	43304914:43304978:43309950:43310085:43310979:43311048	43309950:43310085	ENSG00000141469.12	ENST00000587601.1
exon_skip_296691	18	43304914:43304978:43310264:43310436:43310979:43311048	43310264:43310436	ENSG00000141469.12	ENST00000321925.4,ENST00000586056.1
exon_skip_296695	18	43304914:43304978:43310979:43311169:43314238:43314297	43310979:43311169	ENSG00000141469.12	ENST00000402943.2
exon_skip_296702	18	43307338:43307383:43310264:43310436:43310979:43311048	43310264:43310436	ENSG00000141469.12	ENST00000589891.1,ENST00000415427.3,ENST00000588179.1,ENST00000436407.3,ENST00000586951.1,ENST00000591943.1
exon_skip_296706	18	43307338:43307383:43310979:43311169:43314238:43314297	43310979:43311169	ENSG00000141469.12	ENST00000590246.1
exon_skip_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENSG00000141469.12	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENSG00000141469.12	ENST00000590377.1
exon_skip_296718	18	43316420:43316613:43319127:43319275:43319492:43319627	43319127:43319275	ENSG00000141469.12	ENST00000402943.2,ENST00000415427.3,ENST00000586854.1,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENSG00000141469.12	ENST00000589700.1
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENSG00000141469.12	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1
exon_skip_296730	18	43319492:43319627:43328340:43328390:43329742:43329912	43328340:43328390	ENSG00000141469.12	ENST00000402943.2,ENST00000415427.3,ENST00000591541.1,ENST00000589700.1,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SLC14A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_296667	18	43304160:43304238:43304914:43304978:43314238:43314297	43304914:43304978	ENSG00000141469.12	ENST00000535474.1
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENSG00000141469.12	ENST00000415427.3,ENST00000588179.1
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENSG00000141469.12	ENST00000502059.2
exon_skip_296684	18	43304914:43304978:43307296:43307383:43310264:43310436	43307296:43307383	ENSG00000141469.12	ENST00000586951.1
exon_skip_296690	18	43304914:43304978:43309950:43310085:43310979:43311048	43309950:43310085	ENSG00000141469.12	ENST00000587601.1
exon_skip_296691	18	43304914:43304978:43310264:43310436:43310979:43311048	43310264:43310436	ENSG00000141469.12	ENST00000321925.4,ENST00000586056.1
exon_skip_296695	18	43304914:43304978:43310979:43311169:43314238:43314297	43310979:43311169	ENSG00000141469.12	ENST00000402943.2
exon_skip_296702	18	43307338:43307383:43310264:43310436:43310979:43311048	43310264:43310436	ENSG00000141469.12	ENST00000586951.1,ENST00000415427.3,ENST00000588179.1,ENST00000436407.3,ENST00000589891.1,ENST00000591943.1
exon_skip_296706	18	43307338:43307383:43310979:43311169:43314238:43314297	43310979:43311169	ENSG00000141469.12	ENST00000590246.1
exon_skip_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENSG00000141469.12	ENST00000321925.4,ENST00000502059.2,ENST00000589322.2,ENST00000415427.3,ENST00000535474.1,ENST00000402943.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENSG00000141469.12	ENST00000590377.1
exon_skip_296718	18	43316420:43316613:43319127:43319275:43319492:43319627	43319127:43319275	ENSG00000141469.12	ENST00000321925.4,ENST00000502059.2,ENST00000589322.2,ENST00000415427.3,ENST00000535474.1,ENST00000402943.2,ENST00000436407.3,ENST00000586142.1,ENST00000586854.1
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENSG00000141469.12	ENST00000589700.1
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENSG00000141469.12	ENST00000321925.4,ENST00000502059.2,ENST00000415427.3,ENST00000535474.1,ENST00000402943.2,ENST00000588179.1,ENST00000436407.3,ENST00000586142.1
exon_skip_296730	18	43319492:43319627:43328340:43328390:43329742:43329912	43328340:43328390	ENSG00000141469.12	ENST00000321925.4,ENST00000502059.2,ENST00000415427.3,ENST00000535474.1,ENST00000402943.2,ENST00000588179.1,ENST00000436407.3,ENST00000586142.1,ENST00000589700.1,ENST00000591541.1

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 SLC14A1

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
ENST00000321925	43310264	43310436	5CDS-5UTR
ENST00000321925	43316420	43316613	Frame-shift
ENST00000586142	43316420	43316613	Frame-shift
ENST00000321925	43319127	43319275	Frame-shift
ENST00000586142	43319127	43319275	Frame-shift
ENST00000321925	43328340	43328390	Frame-shift
ENST00000586142	43328340	43328390	Frame-shift
ENST00000321925	43319492	43319627	In-frame
ENST00000586142	43319492	43319627	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
ENST00000321925	43310264	43310436	5CDS-5UTR
ENST00000321925	43316420	43316613	Frame-shift
ENST00000586142	43316420	43316613	Frame-shift
ENST00000321925	43319127	43319275	Frame-shift
ENST00000586142	43319127	43319275	Frame-shift
ENST00000321925	43328340	43328390	Frame-shift
ENST00000586142	43328340	43328390	Frame-shift
ENST00000321925	43319492	43319627	In-frame
ENST00000586142	43319492	43319627	In-frame

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Infer the effects of exon skipping event on protein functional features for SLC14A1

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
ENST00000321925	3988	389	43319492	43319627	1044	1178	270	315
ENST00000586142	2863	389	43319492	43319627	2104	2238	270	315

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
ENST00000321925	3988	389	43319492	43319627	1044	1178	270	315
ENST00000586142	2863	389	43319492	43319627	2104	2238	270	315

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
Q13336	270	315	1	389	Chain	ID=PRO_0000065737;Note=Urea transporter 1
Q13336	270	315	1	389	Chain	ID=PRO_0000065737;Note=Urea transporter 1
Q13336	270	315	280	280	Natural variant	ID=VAR_005669;Note=In Jk(b). D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:9215669,ECO:0000269\|Ref.6,ECO:0000269\|Ref.8;Dbxref=dbSNP:rs1058396,PMID:15489334,PMID:9215669
Q13336	270	315	280	280	Natural variant	ID=VAR_005669;Note=In Jk(b). D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:9215669,ECO:0000269\|Ref.6,ECO:0000269\|Ref.8;Dbxref=dbSNP:rs1058396,PMID:15489334,PMID:9215669
Q13336	270	315	291	291	Natural variant	ID=VAR_013752;Note=In Jk(null). S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10644814,ECO:0000269\|PubMed:10942407;Dbxref=dbSNP:rs78242949,PMID:10644814,PMID:10942407
Q13336	270	315	291	291	Natural variant	ID=VAR_013752;Note=In Jk(null). S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10644814,ECO:0000269\|PubMed:10942407;Dbxref=dbSNP:rs78242949,PMID:10644814,PMID:10942407
Q13336	270	315	299	299	Natural variant	ID=VAR_065467;Note=In Jk(null). G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18980618;Dbxref=dbSNP:rs538368217,PMID:18980618
Q13336	270	315	299	299	Natural variant	ID=VAR_065467;Note=In Jk(null). G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18980618;Dbxref=dbSNP:rs538368217,PMID:18980618
Q13336	270	315	255	274	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	255	274	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	284	304	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	284	304	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	309	330	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	309	330	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q13336	270	315	1	389	Chain	ID=PRO_0000065737;Note=Urea transporter 1
Q13336	270	315	1	389	Chain	ID=PRO_0000065737;Note=Urea transporter 1
Q13336	270	315	280	280	Natural variant	ID=VAR_005669;Note=In Jk(b). D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:9215669,ECO:0000269\|Ref.6,ECO:0000269\|Ref.8;Dbxref=dbSNP:rs1058396,PMID:15489334,PMID:9215669
Q13336	270	315	280	280	Natural variant	ID=VAR_005669;Note=In Jk(b). D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:9215669,ECO:0000269\|Ref.6,ECO:0000269\|Ref.8;Dbxref=dbSNP:rs1058396,PMID:15489334,PMID:9215669
Q13336	270	315	291	291	Natural variant	ID=VAR_013752;Note=In Jk(null). S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10644814,ECO:0000269\|PubMed:10942407;Dbxref=dbSNP:rs78242949,PMID:10644814,PMID:10942407
Q13336	270	315	291	291	Natural variant	ID=VAR_013752;Note=In Jk(null). S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10644814,ECO:0000269\|PubMed:10942407;Dbxref=dbSNP:rs78242949,PMID:10644814,PMID:10942407
Q13336	270	315	299	299	Natural variant	ID=VAR_065467;Note=In Jk(null). G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18980618;Dbxref=dbSNP:rs538368217,PMID:18980618
Q13336	270	315	299	299	Natural variant	ID=VAR_065467;Note=In Jk(null). G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18980618;Dbxref=dbSNP:rs538368217,PMID:18980618
Q13336	270	315	255	274	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	255	274	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	284	304	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	284	304	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	309	330	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13336	270	315	309	330	Transmembrane	Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for SLC14A1

- 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-A3A0-01	exon_skip_296684 exon_skip_296679 exon_skip_296676	43307226	43307383	43307274	43307274	Frame_Shift_Del	C	-	p.A13fs
BLCA	TCGA-G2-A2EO-01	exon_skip_296691 exon_skip_296702	43310265	43310436	43310353	43310353	Frame_Shift_Del	C	-	p.S23fs
LIHC	TCGA-BC-A3KG-01	exon_skip_296695 exon_skip_296706	43310980	43311169	43311060	43311060	Frame_Shift_Del	G	-	p.G78fs
LIHC	TCGA-DD-A39Y-01	exon_skip_296695 exon_skip_296706	43310980	43311169	43311103	43311103	Frame_Shift_Del	G	-	p.W92fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_296695 exon_skip_296706	43310980	43311169	43311103	43311103	Frame_Shift_Del	G	-	p.W92fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_296695 exon_skip_296706	43310980	43311169	43311148	43311148	Frame_Shift_Del	C	-	p.A107fs
KIRP	TCGA-PJ-A5Z9-01	exon_skip_296713 exon_skip_296715	43316421	43316613	43316457	43316458	Frame_Shift_Ins	-	A	p.S225fs
LUSC	TCGA-33-4586-01	exon_skip_296713 exon_skip_296715	43316421	43316613	43316432	43316432	Nonsense_Mutation	C	A	p.S217*
SKCM	TCGA-EE-A29L-06	exon_skip_296723 exon_skip_296724	43319493	43319627	43319587	43319587	Nonsense_Mutation	G	A	p.W253*
SKCM	TCGA-EE-A2A2-06	exon_skip_296730	43328341	43328390	43328385	43328385	Nonsense_Mutation	G	A	p.W281*

- 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
WM88_SKIN	43310265	43310436	43310289	43310289	Missense_Mutation	G	A	p.E2K
HCC366_LUNG	43310265	43310436	43310314	43310314	Missense_Mutation	T	C	p.V10A
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43310265	43310436	43310323	43310323	Missense_Mutation	C	T	p.P13L
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43310980	43311169	43311005	43311006	Missense_Mutation	TG	AT	p.D60Y
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43310980	43311169	43311007	43311007	Missense_Mutation	A	G	p.D60G
BEN_LUNG	43310980	43311169	43311028	43311028	Missense_Mutation	C	A	p.S67Y
KYSE140_OESOPHAGUS	43310980	43311169	43311079	43311079	Missense_Mutation	G	A	p.G84E
SNUC1_LARGE_INTESTINE	43310980	43311169	43311111	43311111	Missense_Mutation	A	T	p.T95S
NCIH1836_LUNG	43310980	43311169	43311147	43311147	Missense_Mutation	G	A	p.A107T
SW1271_LUNG	43310980	43311169	43311155	43311155	Missense_Mutation	G	T	p.L109F
MCC13_SKIN	43316421	43316613	43316545	43316545	Missense_Mutation	C	T	p.P199S
NCIH1869_LUNG	43319128	43319275	43319270	43319270	Missense_Mutation	C	A	p.A269E
NCIH441_LUNG	43310265	43310436	43310427	43310427	Nonsense_Mutation	C	T	p.Q48*
NCIH2066_LUNG	43310980	43311169	43311168	43311168	Splice_Site	A	T	p.R114W
COLO684_ENDOMETRIUM	43310980	43311169	43311169	43311169	Splice_Site	G	T	p.R114M
COLO704_OVARY	43310980	43311169	43311169	43311169	Splice_Site	G	T	p.R114M
HEC6_ENDOMETRIUM	43316421	43316613	43316613	43316613	Splice_Site	G	T	p.E221D
SF295_CENTRAL_NERVOUS_SYSTEM	43319128	43319275	43319128	43319128	Splice_Site	T	C	p.L222L
SNUC2B_LARGE_INTESTINE	43328341	43328390	43328390	43328390	Splice_Site	G	A	p.E332E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC14A1

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_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1	LGG	rs2298718	chr18:43316538	C/T	2.23e-05
exon_skip_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1	PRAD	rs2298718	chr18:43316538	C/T	1.56e-05
exon_skip_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1	PRAD	rs2298718	chr18:43316538	C/T	3.45e-05
exon_skip_296713	18	43314238:43314367:43316420:43316613:43319127:43319186	43316420:43316613	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000535474.1,ENST00000589322.2,ENST00000436407.3,ENST00000586142.1,ENST00000591642.1	PRAD	rs2298718	chr18:43316538	C/T	2.18e-04
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENST00000590377.1	LGG	rs2298718	chr18:43316538	C/T	2.23e-05
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENST00000590377.1	PRAD	rs2298718	chr18:43316538	C/T	1.56e-05
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENST00000590377.1	PRAD	rs2298718	chr18:43316538	C/T	3.45e-05
exon_skip_296715	18	43314238:43314367:43316420:43316613:43328340:43328390	43316420:43316613	ENST00000590377.1	PRAD	rs2298718	chr18:43316538	C/T	2.18e-04
exon_skip_296684	18	43304914:43304978:43307296:43307383:43310264:43310436	43307296:43307383	ENST00000586951.1	PRAD	rs11877086	chr18:43307338	C/A	6.08e-07
exon_skip_296684	18	43304914:43304978:43307296:43307383:43310264:43310436	43307296:43307383	ENST00000586951.1	PRAD	rs11877086	chr18:43307338	C/A	2.62e-06
exon_skip_296684	18	43304914:43304978:43307296:43307383:43310264:43310436	43307296:43307383	ENST00000586951.1	PRAD	rs11877086	chr18:43307338	C/A	1.07e-04
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877086	chr18:43307338	C/A	6.08e-07
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877062	chr18:43307246	C/T	1.26e-06
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877086	chr18:43307338	C/A	2.62e-06
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877062	chr18:43307246	C/T	3.49e-06
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877062	chr18:43307246	C/T	3.60e-05
exon_skip_296679	18	43304914:43304978:43307225:43307383:43314238:43314297	43307225:43307383	ENST00000502059.2	PRAD	rs11877086	chr18:43307338	C/A	1.07e-04
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877086	chr18:43307338	C/A	6.08e-07
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877062	chr18:43307246	C/T	1.26e-06
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877086	chr18:43307338	C/A	2.62e-06
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877062	chr18:43307246	C/T	3.49e-06
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877062	chr18:43307246	C/T	3.60e-05
exon_skip_296676	18	43304914:43304978:43307225:43307383:43310264:43310436	43307225:43307383	ENST00000415427.3,ENST00000588179.1	PRAD	rs11877086	chr18:43307338	C/A	1.07e-04
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000589700.1	LGG	rs1058396	chr18:43319519	A/G	1.62e-03
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000589700.1	PRAD	rs1058396	chr18:43319519	A/G	1.33e-07
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000589700.1	PRAD	rs1058396	chr18:43319519	A/G	2.32e-06
exon_skip_296723	18	43316420:43316613:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000589700.1	PRAD	rs1058396	chr18:43319519	A/G	4.17e-05
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1	LGG	rs1058396	chr18:43319519	A/G	1.62e-03
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1	PRAD	rs1058396	chr18:43319519	A/G	1.33e-07
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1	PRAD	rs1058396	chr18:43319519	A/G	2.32e-06
exon_skip_296724	18	43319127:43319275:43319492:43319627:43328340:43328390	43319492:43319627	ENST00000402943.2,ENST00000415427.3,ENST00000321925.4,ENST00000502059.2,ENST00000588179.1,ENST00000535474.1,ENST00000436407.3,ENST00000586142.1	PRAD	rs1058396	chr18:43319519	A/G	4.17e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC14A1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC14A1

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RelatedDrugs for SLC14A1

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 SLC14A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SLC14A1	C0002880	Autoimmune hemolytic anemia	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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