ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SULT1A2

Gene summary

Gene information	Gene symbol	SULT1A2
	Gene ID	6799
	Gene name	sulfotransferase family 1A member 2
	Synonyms	HAST4\|P-PST\|ST1A2\|STP2\|TSPST2
	Cytomap	16p11.2
	Type of gene	protein-coding
	Description	sulfotransferase 1A2P-PST 2aryl sulfotransferase 2arylamine sulfotransferasephenol sulfotransferase 2phenol-preferring phenol sulfotransferase2phenol-sulfating phenol sulfotransferase 2phenolic-metabolizing (P) form of PSTsulfotransferase family,
	Modification date	20180519
	UniProtAcc	P50226
	Context	PubMed: SULT1A2 [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
SULT1A2	GO:0006068	ethanol catabolic process	23207770
SULT1A2	GO:0006805	xenobiotic metabolic process	20417180
SULT1A2	GO:0018958	phenol-containing compound metabolic process	20417180
SULT1A2	GO:0050427	3'-phosphoadenosine 5'-phosphosulfate metabolic process	23207770
SULT1A2	GO:0051923	sulfation	20056724\|23207770

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Exon skipping events across known transcript of Ensembl for SULT1A2 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 SULT1A2

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 SULT1A2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_143494	16	28603583:28603764:28604572:28604667:28604762:28604889	28604572:28604667	ENSG00000197165.6	ENST00000395630.1,ENST00000335715.4
exon_skip_143504	16	28603583:28603802:28604572:28604667:28604762:28604889	28604572:28604667	ENSG00000197165.6	ENST00000534108.1
exon_skip_143515	16	28603583:28603802:28606687:28606996:28607103:28607255	28606687:28606996	ENSG00000197165.6	ENST00000533150.1
exon_skip_143522	16	28604590:28604667:28604762:28604889:28606687:28606785	28604762:28604889	ENSG00000197165.6	ENST00000526384.1,ENST00000534108.1,ENST00000395630.1,ENST00000335715.4
exon_skip_143530	16	28606687:28606785:28606870:28606996:28607103:28607255	28606870:28606996	ENSG00000197165.6	ENST00000526384.1,ENST00000395630.1,ENST00000335715.4
exon_skip_143536	16	28606870:28606996:28607103:28607255:28608317:28608430	28607103:28607255	ENSG00000197165.6	ENST00000335715.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SULT1A2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_143494	16	28603583:28603764:28604572:28604667:28604762:28604889	28604572:28604667	ENSG00000197165.6	ENST00000335715.4,ENST00000395630.1
exon_skip_143504	16	28603583:28603802:28604572:28604667:28604762:28604889	28604572:28604667	ENSG00000197165.6	ENST00000534108.1
exon_skip_143522	16	28604590:28604667:28604762:28604889:28606687:28606785	28604762:28604889	ENSG00000197165.6	ENST00000534108.1,ENST00000335715.4,ENST00000395630.1,ENST00000526384.1
exon_skip_143530	16	28606687:28606785:28606870:28606996:28607103:28607255	28606870:28606996	ENSG00000197165.6	ENST00000335715.4,ENST00000395630.1,ENST00000526384.1
exon_skip_143536	16	28606870:28606996:28607103:28607255:28608317:28608430	28607103:28607255	ENSG00000197165.6	ENST00000335715.4

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 SULT1A2

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
ENST00000335715	28607103	28607255	3UTR-3CDS
ENST00000335715	28604572	28604667	Frame-shift
ENST00000395630	28604572	28604667	Frame-shift
ENST00000335715	28604762	28604889	Frame-shift
ENST00000395630	28604762	28604889	Frame-shift
ENST00000335715	28606870	28606996	In-frame
ENST00000395630	28606870	28606996	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
ENST00000335715	28607103	28607255	3UTR-3CDS
ENST00000335715	28604572	28604667	Frame-shift
ENST00000395630	28604572	28604667	Frame-shift
ENST00000335715	28604762	28604889	Frame-shift
ENST00000395630	28604762	28604889	Frame-shift
ENST00000335715	28606870	28606996	In-frame
ENST00000395630	28606870	28606996	In-frame

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Infer the effects of exon skipping event on protein functional features for SULT1A2

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
ENST00000335715	1107	295	28606870	28606996	266	391	49	91
ENST00000395630	1339	295	28606870	28606996	500	625	49	91

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
ENST00000335715	1107	295	28606870	28606996	266	391	49	91
ENST00000395630	1339	295	28606870	28606996	500	625	49	91

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
P50226	49	91	1	295	Chain	ID=PRO_0000085128;Note=Sulfotransferase 1A2
P50226	49	91	1	295	Chain	ID=PRO_0000085128;Note=Sulfotransferase 1A2
P50226	49	91	51	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	51	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	75	78	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	75	78	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	62	62	Natural variant	ID=VAR_057341;Note=Y->F;Dbxref=dbSNP:rs4987024
P50226	49	91	62	62	Natural variant	ID=VAR_057341;Note=Y->F;Dbxref=dbSNP:rs4987024
P50226	49	91	48	53	Nucleotide binding	Note=PAPS
P50226	49	91	48	53	Nucleotide binding	Note=PAPS

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
P50226	49	91	1	295	Chain	ID=PRO_0000085128;Note=Sulfotransferase 1A2
P50226	49	91	1	295	Chain	ID=PRO_0000085128;Note=Sulfotransferase 1A2
P50226	49	91	51	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	51	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	75	78	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	75	78	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1Z29
P50226	49	91	62	62	Natural variant	ID=VAR_057341;Note=Y->F;Dbxref=dbSNP:rs4987024
P50226	49	91	62	62	Natural variant	ID=VAR_057341;Note=Y->F;Dbxref=dbSNP:rs4987024
P50226	49	91	48	53	Nucleotide binding	Note=PAPS
P50226	49	91	48	53	Nucleotide binding	Note=PAPS

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SNVs in the skipped exons for SULT1A2

- 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.

SULT1A2_LIHC_exon_skip_143515_psi_boxplot.png
boxplot

SULT1A2_LIHC_exon_skip_143530_psi_boxplot.png
boxplot

- 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-G3-A3CJ-01	exon_skip_143515	28606688	28606996	28606714	28606714	Frame_Shift_Del	G	-	p.P144fs
LIHC	TCGA-DD-A39Y-01	exon_skip_143515	28606688	28606996	28606767	28606767	Frame_Shift_Del	T	-	p.K126fs
LIHC	TCGA-DD-A3A0-01	exon_skip_143515	28606688	28606996	28606823	28606823	Frame_Shift_Del	C	-	p.A108fs
LIHC	TCGA-DD-A3A1-01	exon_skip_143515	28606688	28606996	28606923	28606923	Frame_Shift_Del	G	-	p.P74fs
LIHC	TCGA-DD-A3A1-01	exon_skip_143530	28606871	28606996	28606923	28606923	Frame_Shift_Del	G	-	p.P74fs
LIHC	TCGA-DD-A39Y-01	exon_skip_143536	28607104	28607255	28607200	28607200	Frame_Shift_Del	C	-	p.V18fs
PAAD	TCGA-IB-7651-01	exon_skip_143522	28604763	28604889	28604766	28604766	Nonsense_Mutation	C	A	p.E166*
PAAD	TCGA-IB-7651-01	exon_skip_143522	28604763	28604889	28604766	28604766	Nonsense_Mutation	C	A	p.E166X
LGG	TCGA-S9-A7R4-01	exon_skip_143515	28606688	28606996	28606753	28606753	Nonsense_Mutation	G	A	p.R103*
HNSC	TCGA-P3-A5Q5-01	exon_skip_143515	28606688	28606996	28606873	28606873	Nonsense_Mutation	G	C	p.S91*
HNSC	TCGA-P3-A5Q5-01	exon_skip_143530	28606871	28606996	28606873	28606873	Nonsense_Mutation	G	C	p.S91*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-P3-A5Q5-01
	Cancer type: HNSC
	ESID: exon_skip_143530
	Skipped exon start: 28606871
	Skipped exon end: 28606996
	Mutation start: 28606873
	Mutation end: 28606873
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: C
	AAchange: p.S91*
	Sample: TCGA-P3-A5Q5-01
	Cancer type: HNSC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606873
	Mutation end: 28606873
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: C
	AAchange: p.S91*
exon_skip_143515_HNSC_TCGA-P3-A5Q5-01.png
	Sample: TCGA-DD-A3A1-01
	Cancer type: LIHC
	ESID: exon_skip_143530
	Skipped exon start: 28606871
	Skipped exon end: 28606996
	Mutation start: 28606923
	Mutation end: 28606923
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P74fs
	Sample: TCGA-DD-A3A1-01
	Cancer type: LIHC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606923
	Mutation end: 28606923
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P74fs
exon_skip_143515_LIHC_TCGA-DD-A3A1-01.png
exon_skip_143530_LIHC_TCGA-DD-A3A1-01.png
exon_skip_294753_LIHC_TCGA-DD-A3A1-01.png
exon_skip_30789_LIHC_TCGA-DD-A3A1-01.png
exon_skip_30792_LIHC_TCGA-DD-A3A1-01.png
exon_skip_334374_LIHC_TCGA-DD-A3A1-01.png
exon_skip_334375_LIHC_TCGA-DD-A3A1-01.png
exon_skip_35548_LIHC_TCGA-DD-A3A1-01.png
exon_skip_35556_LIHC_TCGA-DD-A3A1-01.png
exon_skip_440994_LIHC_TCGA-DD-A3A1-01.png
exon_skip_444629_LIHC_TCGA-DD-A3A1-01.png
exon_skip_457822_LIHC_TCGA-DD-A3A1-01.png
exon_skip_481831_LIHC_TCGA-DD-A3A1-01.png
exon_skip_487830_LIHC_TCGA-DD-A3A1-01.png
exon_skip_499050_LIHC_TCGA-DD-A3A1-01.png
exon_skip_504288_LIHC_TCGA-DD-A3A1-01.png
exon_skip_84182_LIHC_TCGA-DD-A3A1-01.png
exon_skip_86135_LIHC_TCGA-DD-A3A1-01.png
	Sample: TCGA-P3-A5Q5-01
	Cancer type: HNSC
	ESID: exon_skip_143530
	Skipped exon start: 28606871
	Skipped exon end: 28606996
	Mutation start: 28606873
	Mutation end: 28606873
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: C
	AAchange: p.S91*
	Sample: TCGA-P3-A5Q5-01
	Cancer type: HNSC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606873
	Mutation end: 28606873
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: C
	AAchange: p.S91*
exon_skip_143515_HNSC_TCGA-P3-A5Q5-01.png
	Sample: TCGA-S9-A7R4-01
	Cancer type: LGG
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606753
	Mutation end: 28606753
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R103*
exon_skip_143515_LGG_TCGA-S9-A7R4-01.png
exon_skip_496649_LGG_TCGA-S9-A7R4-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606767
	Mutation end: 28606767
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K126fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_143536
	Skipped exon start: 28607104
	Skipped exon end: 28607255
	Mutation start: 28607200
	Mutation end: 28607200
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.V18fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294067_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29733_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299242_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299287_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299304_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299306_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299307_LIHC_TCGA-DD-A39Y-01.png
exon_skip_30001_LIHC_TCGA-DD-A39Y-01.png
exon_skip_300924_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301267_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301272_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302094_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302095_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302097_LIHC_TCGA-DD-A39Y-01.png
exon_skip_3064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_306549_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-DD-A3A1-01
	Cancer type: LIHC
	ESID: exon_skip_143530
	Skipped exon start: 28606871
	Skipped exon end: 28606996
	Mutation start: 28606923
	Mutation end: 28606923
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P74fs
	Sample: TCGA-DD-A3A1-01
	Cancer type: LIHC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606923
	Mutation end: 28606923
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P74fs
exon_skip_143515_LIHC_TCGA-DD-A3A1-01.png
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exon_skip_84182_LIHC_TCGA-DD-A3A1-01.png
exon_skip_86135_LIHC_TCGA-DD-A3A1-01.png
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_143515
	Skipped exon start: 28606688
	Skipped exon end: 28606996
	Mutation start: 28606714
	Mutation end: 28606714
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P144fs
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exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-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
SNUC2A_LARGE_INTESTINE	28607104	28607255	28607200	28607200	Frame_Shift_Del	C	-	p.V18fs
SNUC2B_LARGE_INTESTINE	28607104	28607255	28607200	28607200	Frame_Shift_Del	C	-	p.V18fs
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28604573	28604667	28604619	28604619	Missense_Mutation	C	T	p.S183N
HEC59_ENDOMETRIUM	28604763	28604889	28604868	28604868	Missense_Mutation	C	T	p.A132T
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28604763	28604889	28604874	28604874	Missense_Mutation	G	A	p.R130C
SW756_CERVIX	28606871	28606996	28606901	28606901	Missense_Mutation	G	A	p.L82F
SW756_CERVIX	28606688	28606996	28606901	28606901	Missense_Mutation	G	A	p.L82F
OV7_OVARY	28606871	28606996	28606913	28606913	Missense_Mutation	G	A	p.R78W
OV7_OVARY	28606688	28606996	28606913	28606913	Missense_Mutation	G	A	p.R78W
RT112_URINARY_TRACT	28607104	28607255	28607169	28607169	Missense_Mutation	A	G	p.L28P
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28607104	28607255	28607226	28607226	Missense_Mutation	C	T	p.R9H
WM35_SKIN	28604573	28604667	28604628	28604628	Nonsense_Mutation	C	T	p.W180*
NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28604573	28604667	28604638	28604638	Nonsense_Mutation	G	A	p.Q177*
ABC1_LUNG	28607104	28607255	28607239	28607239	Nonsense_Mutation	G	A	p.Q5*
SNU719_STOMACH	28606871	28606996	28606872	28606872	Splice_Site	T	G	p.S91S
SNU719_STOMACH	28606688	28606996	28606872	28606872	Splice_Site	T	G	p.S91S
2313287_STOMACH	28606871	28606996	28606872	28606872	Splice_Site	T	A	p.S91S
2313287_STOMACH	28606688	28606996	28606872	28606872	Splice_Site	T	A	p.S91S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SULT1A2

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SULT1A2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SULT1A2

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RelatedDrugs for SULT1A2

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 SULT1A2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SULT1A2	C0008625	Chromosome Aberrations	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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