ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for STRA6

Gene summary

Gene information	Gene symbol	STRA6
	Gene ID	64220
	Gene name	stimulated by retinoic acid 6
	Synonyms	MCOPCB8\|MCOPS9\|PP14296
	Cytomap	15q24.1
	Type of gene	protein-coding
	Description	receptor for retinol uptake STRA6retinol binding protein 4 receptorretinol-binding protein receptor STRA6stimulated by retinoic acid 6 homologstimulated by retinoic acid gene 6 homologstimulated by retinoic acid gene 6 protein homolog
	Modification date	20180523
	UniProtAcc	Q9BX79
	Context	PubMed: STRA6 [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
STRA6	GO:0034633	retinol transport	21901792

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Exon skipping events across known transcript of Ensembl for STRA6 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 STRA6

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 STRA6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_129223	15	74473635:74473799:74474501:74474563:74474683:74474784	74474501:74474563	ENSG00000137868.14	ENST00000572785.1
exon_skip_129225	15	74473635:74473799:74474501:74474603:74474683:74474784	74474501:74474603	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000574439.1,ENST00000545137.1,ENST00000535552.1,ENST00000563965.1,ENST00000449139.2,ENST00000416286.3
exon_skip_129231	15	74474788:74474801:74475593:74476330:74477320:74477396	74475593:74476330	ENSG00000137868.14	ENST00000569936.1
exon_skip_129233	15	74474788:74474801:74476196:74476330:74477320:74477396	74476196:74476330	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000574439.1,ENST00000545137.1,ENST00000535552.1,ENST00000563965.1,ENST00000449139.2,ENST00000416286.3
exon_skip_129241	15	74486140:74486263:74487642:74487809:74487992:74488016	74487642:74487809	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000423167.2,ENST00000569936.1,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000449139.2
exon_skip_129242	15	74487642:74487809:74487992:74488016:74488348:74488488	74487992:74488016	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000423167.2,ENST00000569936.1,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000449139.2,ENST00000573456.1
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENSG00000137868.14	ENST00000423167.2
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENSG00000137868.14	ENST00000573456.1
exon_skip_129249	15	74488348:74488488:74489678:74489764:74490092:74490159	74489678:74489764	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2,ENST00000416286.3
exon_skip_129254	15	74489679:74489764:74490092:74490159:74494495:74494623	74490092:74490159	ENSG00000137868.14	ENST00000574278.1,ENST00000395105.4,ENST00000423167.2,ENST00000574570.1,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2,ENST00000571341.1,ENST00000416286.3
exon_skip_129255	15	74489679:74489764:74490092:74490203:74494495:74494623	74490092:74490203	ENSG00000137868.14	ENST00000574439.1,ENST00000573456.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for STRA6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_129223	15	74473635:74473799:74474501:74474563:74474683:74474784	74474501:74474563	ENSG00000137868.14	ENST00000572785.1
exon_skip_129225	15	74473635:74473799:74474501:74474603:74474683:74474784	74474501:74474603	ENSG00000137868.14	ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000449139.2,ENST00000416286.3,ENST00000545137.1,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000574278.1
exon_skip_129231	15	74474788:74474801:74475593:74476330:74477320:74477396	74475593:74476330	ENSG00000137868.14	ENST00000569936.1
exon_skip_129233	15	74474788:74474801:74476196:74476330:74477320:74477396	74476196:74476330	ENSG00000137868.14	ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000449139.2,ENST00000416286.3,ENST00000545137.1,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000574278.1
exon_skip_129241	15	74486140:74486263:74487642:74487809:74487992:74488016	74487642:74487809	ENSG00000137868.14	ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000449139.2,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000574278.1,ENST00000569936.1
exon_skip_129242	15	74487642:74487809:74487992:74488016:74488348:74488488	74487992:74488016	ENSG00000137868.14	ENST00000395105.4,ENST00000423167.2,ENST00000323940.5,ENST00000449139.2,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000574278.1,ENST00000569936.1,ENST00000573456.1
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENSG00000137868.14	ENST00000423167.2
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENSG00000137868.14	ENST00000395105.4,ENST00000323940.5,ENST00000449139.2,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000574278.1,ENST00000569936.1,ENST00000432245.2,ENST00000573214.1
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENSG00000137868.14	ENST00000573456.1

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 STRA6

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
ENST00000323940	74476196	74476330	Frame-shift
ENST00000395105	74476196	74476330	Frame-shift
ENST00000449139	74476196	74476330	Frame-shift
ENST00000323940	74487642	74487809	Frame-shift
ENST00000395105	74487642	74487809	Frame-shift
ENST00000449139	74487642	74487809	Frame-shift
ENST00000323940	74488348	74488488	Frame-shift
ENST00000395105	74488348	74488488	Frame-shift
ENST00000449139	74488348	74488488	Frame-shift
ENST00000323940	74489678	74489764	Frame-shift
ENST00000395105	74489678	74489764	Frame-shift
ENST00000449139	74489678	74489764	Frame-shift
ENST00000323940	74490092	74490159	Frame-shift
ENST00000395105	74490092	74490159	Frame-shift
ENST00000449139	74490092	74490159	Frame-shift
ENST00000323940	74474501	74474603	In-frame
ENST00000395105	74474501	74474603	In-frame
ENST00000449139	74474501	74474603	In-frame
ENST00000323940	74487992	74488016	In-frame
ENST00000395105	74487992	74488016	In-frame
ENST00000449139	74487992	74488016	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
ENST00000323940	74476196	74476330	Frame-shift
ENST00000395105	74476196	74476330	Frame-shift
ENST00000449139	74476196	74476330	Frame-shift
ENST00000323940	74487642	74487809	Frame-shift
ENST00000395105	74487642	74487809	Frame-shift
ENST00000449139	74487642	74487809	Frame-shift
ENST00000323940	74488348	74488488	Frame-shift
ENST00000395105	74488348	74488488	Frame-shift
ENST00000449139	74488348	74488488	Frame-shift
ENST00000323940	74474501	74474603	In-frame
ENST00000395105	74474501	74474603	In-frame
ENST00000449139	74474501	74474603	In-frame
ENST00000323940	74487992	74488016	In-frame
ENST00000395105	74487992	74488016	In-frame
ENST00000449139	74487992	74488016	In-frame

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Infer the effects of exon skipping event on protein functional features for STRA6

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
ENST00000323940	2881	667	74474501	74474603	1665	1766	473	506
ENST00000395105	2817	667	74474501	74474603	1601	1702	473	506
ENST00000449139	2749	667	74474501	74474603	1533	1634	473	506

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
ENST00000323940	2881	667	74474501	74474603	1665	1766	473	506
ENST00000395105	2817	667	74474501	74474603	1601	1702	473	506
ENST00000449139	2749	667	74474501	74474603	1533	1634	473	506

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

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

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SNVs in the skipped exons for STRA6

- 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
HNSC	TCGA-CR-7402-01	exon_skip_129254	74490093	74490159	74490147	74490147	Frame_Shift_Del	G	-	p.S42fs
HNSC	TCGA-CR-7402-01	exon_skip_129255	74490093	74490203	74490147	74490147	Frame_Shift_Del	G	-	p.S42fs
TGCT	TCGA-2G-AALP-01	exon_skip_129231	74475594	74476330	74476251	74476252	Frame_Shift_Ins	-	T	p.HH415fs
TGCT	TCGA-2G-AALP-01	exon_skip_129233	74476197	74476330	74476251	74476252	Frame_Shift_Ins	-	T	p.HH415fs
COAD	TCGA-CA-6717-01	exon_skip_129249	74489679	74489764	74489766	74489766	Splice_Site	T	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-2G-AALP-01
	Cancer type: TGCT
	ESID: exon_skip_129231
	Skipped exon start: 74475594
	Skipped exon end: 74476330
	Mutation start: 74476251
	Mutation end: 74476252
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.HH415fs
	Sample: TCGA-2G-AALP-01
	Cancer type: TGCT
	ESID: exon_skip_129233
	Skipped exon start: 74476197
	Skipped exon end: 74476330
	Mutation start: 74476251
	Mutation end: 74476252
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.HH415fs
exon_skip_129231_TGCT_TCGA-2G-AALP-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
MS1_SKIN	74475594	74476330	74476285	74476285	Frame_Shift_Del	A	-	p.S404fs
MS1_SKIN	74476197	74476330	74476285	74476285	Frame_Shift_Del	A	-	p.S404fs
MS1_LUNG	74475594	74476330	74476285	74476285	Frame_Shift_Del	A	-	p.S404fs
MS1_LUNG	74476197	74476330	74476285	74476285	Frame_Shift_Del	A	-	p.S404fs
KM12_LARGE_INTESTINE	74488349	74488488	74488410	74488411	Frame_Shift_Del	AC	-	p.C115fs
KM12_LARGE_INTESTINE	74488349	74488595	74488410	74488411	Frame_Shift_Del	AC	-	p.C115fs
KM12_LARGE_INTESTINE	74488349	74488461	74488410	74488411	Frame_Shift_Del	AC	-	p.C115fs
CW2_LARGE_INTESTINE	74488349	74488488	74488466	74488466	Frame_Shift_Del	C	-	p.D97fs
CW2_LARGE_INTESTINE	74488349	74488595	74488466	74488466	Frame_Shift_Del	C	-	p.D97fs
CW2_LARGE_INTESTINE	74488349	74488461	74488466	74488466	Frame_Shift_Del	C	-	p.D97fs
PACADD161_PANCREAS	74474502	74474563	74474556	74474556	Missense_Mutation	G	C	p.A489G
PACADD161_PANCREAS	74474502	74474603	74474556	74474556	Missense_Mutation	G	C	p.A489G
VMCUB1_URINARY_TRACT	74475594	74476330	74476225	74476225	Missense_Mutation	A	C	p.S424R
VMCUB1_URINARY_TRACT	74476197	74476330	74476225	74476225	Missense_Mutation	A	C	p.S424R
SW48_LARGE_INTESTINE	74475594	74476330	74476232	74476232	Missense_Mutation	C	T	p.S422N
SW48_LARGE_INTESTINE	74476197	74476330	74476232	74476232	Missense_Mutation	C	T	p.S422N
CCK81_LARGE_INTESTINE	74475594	74476330	74476319	74476319	Missense_Mutation	C	T	p.R393Q
CCK81_LARGE_INTESTINE	74476197	74476330	74476319	74476319	Missense_Mutation	C	T	p.R393Q
MZ7MEL_SKIN	74487643	74487809	74487684	74487684	Missense_Mutation	C	T	p.V186I
PCI6A_UPPER_AERODIGESTIVE_TRACT	74488349	74488488	74488368	74488369	Missense_Mutation	GA	TG	p.L129P
PCI6A_UPPER_AERODIGESTIVE_TRACT	74488349	74488595	74488368	74488369	Missense_Mutation	GA	TG	p.L129P
PCI6A_UPPER_AERODIGESTIVE_TRACT	74488349	74488461	74488368	74488369	Missense_Mutation	GA	TG	p.L129P
NCIH1048_LUNG	74488349	74488488	74488382	74488382	Missense_Mutation	G	A	p.P125S
NCIH1048_LUNG	74488349	74488595	74488382	74488382	Missense_Mutation	G	A	p.P125S
NCIH1048_LUNG	74488349	74488461	74488382	74488382	Missense_Mutation	G	A	p.P125S
HEC108_ENDOMETRIUM	74488349	74488488	74488397	74488397	Missense_Mutation	C	T	p.D120N
HEC108_ENDOMETRIUM	74488349	74488595	74488397	74488397	Missense_Mutation	C	T	p.D120N
HEC108_ENDOMETRIUM	74488349	74488461	74488397	74488397	Missense_Mutation	C	T	p.D120N
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488488	74488420	74488420	Missense_Mutation	C	T	p.S112N
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488595	74488420	74488420	Missense_Mutation	C	T	p.S112N
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488461	74488420	74488420	Missense_Mutation	C	T	p.S112N
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488488	74488420	74488420	Missense_Mutation	C	T	p.S112N
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488595	74488420	74488420	Missense_Mutation	C	T	p.S112N
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74488349	74488461	74488420	74488420	Missense_Mutation	C	T	p.S112N
KYSE510_OESOPHAGUS	74489679	74489764	74489698	74489698	Missense_Mutation	C	T	p.G83S
FTC238_THYROID	74490093	74490159	74490143	74490143	Missense_Mutation	G	T	p.H44N
FTC238_THYROID	74490093	74490203	74490143	74490143	Missense_Mutation	G	T	p.H44N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STRA6

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_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	CESC	rs11857410	chr15:74488424	G/A	3.76e-05
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	CESC	rs11857410	chr15:74488424	G/A	4.02e-05
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	HNSC	rs11857410	chr15:74488424	G/A	2.72e-06
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	HNSC	rs11857410	chr15:74488424	G/A	4.03e-05
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	BRCA	rs11857410	chr15:74488424	G/A	5.85e-13
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	BRCA	rs11857410	chr15:74488424	G/A	3.05e-12
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LGG	rs11857410	chr15:74488424	G/A	1.08e-04
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LGG	rs11857410	chr15:74488424	G/A	1.60e-03
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LUAD	rs11857410	chr15:74488424	G/A	3.00e-07
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LUAD	rs11857410	chr15:74488424	G/A	8.46e-05
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LUSC	rs11857410	chr15:74488424	G/A	2.67e-04
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	LUSC	rs11857410	chr15:74488424	G/A	1.31e-03
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	PAAD	rs11857410	chr15:74488424	G/A	3.70e-10
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	PAAD	rs11857410	chr15:74488424	G/A	1.81e-08
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	PRAD	rs11857410	chr15:74488424	G/A	2.63e-08
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	PRAD	rs11857410	chr15:74488424	G/A	2.65e-08
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	THYM	rs11857410	chr15:74488424	G/A	1.06e-04
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	STAD	rs11857410	chr15:74488424	G/A	5.83e-04
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	THCA	rs11857410	chr15:74488424	G/A	1.19e-03
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	THCA	rs11857410	chr15:74488424	G/A	1.70e-03
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04
exon_skip_129244	15	74487992:74488016:74488348:74488488:74489678:74489764	74488348:74488488	ENST00000574278.1,ENST00000395105.4,ENST00000569936.1,ENST00000432245.2,ENST00000323940.5,ENST00000574439.1,ENST00000535552.1,ENST00000563965.1,ENST00000573214.1,ENST00000449139.2	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	CESC	rs11857410	chr15:74488424	G/A	3.76e-05
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	CESC	rs11857410	chr15:74488424	G/A	4.02e-05
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	HNSC	rs11857410	chr15:74488424	G/A	2.72e-06
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	HNSC	rs11857410	chr15:74488424	G/A	4.03e-05
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	BRCA	rs11857410	chr15:74488424	G/A	5.85e-13
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	BRCA	rs11857410	chr15:74488424	G/A	3.05e-12
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LGG	rs11857410	chr15:74488424	G/A	1.08e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LGG	rs11857410	chr15:74488424	G/A	1.60e-03
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LUAD	rs11857410	chr15:74488424	G/A	3.00e-07
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LUAD	rs11857410	chr15:74488424	G/A	8.46e-05
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LUSC	rs11857410	chr15:74488424	G/A	2.67e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	LUSC	rs11857410	chr15:74488424	G/A	1.31e-03
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	PAAD	rs11857410	chr15:74488424	G/A	3.70e-10
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	PAAD	rs11857410	chr15:74488424	G/A	1.81e-08
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	PRAD	rs11857410	chr15:74488424	G/A	2.63e-08
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	PRAD	rs11857410	chr15:74488424	G/A	2.65e-08
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	THYM	rs11857410	chr15:74488424	G/A	1.06e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	STAD	rs11857410	chr15:74488424	G/A	5.83e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	THCA	rs11857410	chr15:74488424	G/A	1.19e-03
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	THCA	rs11857410	chr15:74488424	G/A	1.70e-03
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04
exon_skip_129247	15	74487992:74488016:74488348:74488595:74489678:74489764	74488348:74488595	ENST00000573456.1	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	CESC	rs11857410	chr15:74488424	G/A	3.76e-05
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	CESC	rs11857410	chr15:74488424	G/A	4.02e-05
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	HNSC	rs11857410	chr15:74488424	G/A	2.72e-06
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	HNSC	rs11857410	chr15:74488424	G/A	4.03e-05
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	BRCA	rs11857410	chr15:74488424	G/A	5.85e-13
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	BRCA	rs11857410	chr15:74488424	G/A	3.05e-12
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LGG	rs11857410	chr15:74488424	G/A	1.08e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LGG	rs11857410	chr15:74488424	G/A	1.60e-03
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LUAD	rs11857410	chr15:74488424	G/A	3.00e-07
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LUAD	rs11857410	chr15:74488424	G/A	8.46e-05
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LUSC	rs11857410	chr15:74488424	G/A	2.67e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	LUSC	rs11857410	chr15:74488424	G/A	1.31e-03
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	PAAD	rs11857410	chr15:74488424	G/A	3.70e-10
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	PAAD	rs11857410	chr15:74488424	G/A	1.81e-08
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	PRAD	rs11857410	chr15:74488424	G/A	2.63e-08
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	PRAD	rs11857410	chr15:74488424	G/A	2.65e-08
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	THYM	rs11857410	chr15:74488424	G/A	1.06e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	STAD	rs11857410	chr15:74488424	G/A	5.83e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	THCA	rs11857410	chr15:74488424	G/A	1.19e-03
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	THCA	rs11857410	chr15:74488424	G/A	1.70e-03
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04
exon_skip_129243	15	74487992:74488016:74488348:74488461:74489678:74489764	74488348:74488461	ENST00000423167.2	UCEC	rs11857410	chr15:74488424	G/A	2.01e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STRA6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STRA6

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RelatedDrugs for STRA6

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 STRA6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
STRA6	C1832661	ANOPHTHALMIA AND PULMONARY HYPOPLASIA	3	CTD_human;ORPHANET;UNIPROT
STRA6	C0003119	Anophthalmos	1	CTD_human
STRA6	C0018798	Congenital Heart Defects	1	CTD_human
STRA6	C0019284	Diaphragmatic Hernia	1	CTD_human
STRA6	C0024115	Lung diseases	1	CTD_human
STRA6	C0026010	Microphthalmos	1	CTD_human
STRA6	C0243050	Cardiovascular Abnormalities	1	CTD_human
STRA6	C0376634	Craniofacial Abnormalities	1	CTD_human
STRA6	C2677362	Alveolar capillary dysplasia	1	CTD_human
STRA6	C3714756	Intellectual Disability	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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