ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GALNT6

Gene summary

Gene information	Gene symbol	GALNT6
	Gene ID	11226
	Gene name	polypeptide N-acetylgalactosaminyltransferase 6
	Synonyms	GALNAC-T6\|GalNAcT6
	Cytomap	12q13.13
	Type of gene	protein-coding
	Description	polypeptide N-acetylgalactosaminyltransferase 6GalNAc transferase 6UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6UDP-N-acetyl-alpha-D-galactosamine:polypept
	Modification date	20180523
	UniProtAcc	Q8NCL4
	Context	PubMed: GALNT6 [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 GALNT6 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 GALNT6

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 GALNT6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_92272	12	51748054:51748276:51749589:51749742:51751132:51751234	51749589:51749742	ENSG00000139629.11	ENST00000543196.2,ENST00000603641.1,ENST00000603680.1,ENST00000356317.3
exon_skip_92273	12	51751132:51751234:51751913:51752045:51752915:51753067	51751913:51752045	ENSG00000139629.11	ENST00000543196.2,ENST00000603641.1,ENST00000603680.1,ENST00000356317.3
exon_skip_92276	12	51751913:51752045:51752915:51753116:51757904:51758139	51752915:51753116	ENSG00000139629.11	ENST00000603641.1
exon_skip_92286	12	51752915:51753116:51754504:51754622:51757904:51758139	51754504:51754622	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3
exon_skip_92289	12	51757904:51758139:51759213:51759363:51770978:51771151	51759213:51759363	ENSG00000139629.11	ENST00000543196.2,ENST00000603641.1,ENST00000356317.3
exon_skip_92290	12	51759213:51759363:51770978:51771151:51773074:51773565	51770978:51771151	ENSG00000139629.11	ENST00000543196.2,ENST00000603641.1,ENST00000356317.3
exon_skip_92291	12	51773624:51773668:51776096:51776293:51777244:51777347	51776096:51776293	ENSG00000139629.11	ENST00000603203.1,ENST00000605089.1,ENST00000604506.1
exon_skip_92298	12	51773624:51773668:51777244:51777366:51784633:51784721	51777244:51777366	ENSG00000139629.11	ENST00000605617.1,ENST00000605055.1,ENST00000603188.1,ENST00000603563.1
exon_skip_92301	12	51773624:51773668:51777244:51777366:51785384:51785413	51777244:51777366	ENSG00000139629.11	ENST00000605822.1
exon_skip_92321	12	51777285:51777366:51784633:51784721:51784865:51784979	51784633:51784721	ENSG00000139629.11	ENST00000605055.1,ENST00000603563.1
exon_skip_92322	12	51777285:51777366:51784633:51784721:51785070:51785174	51784633:51784721	ENSG00000139629.11	ENST00000605089.1
exon_skip_92323	12	51777285:51777366:51784633:51784721:51785138:51785218	51784633:51784721	ENSG00000139629.11	ENST00000603188.1
exon_skip_92324	12	51777285:51777366:51784633:51784721:51785384:51785413	51784633:51784721	ENSG00000139629.11	ENST00000603203.1,ENST00000605617.1,ENST00000605138.1
exon_skip_92336	12	51784633:51784721:51784865:51784979:51785384:51785413	51784865:51784979	ENSG00000139629.11	ENST00000605055.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GALNT6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_92272	12	51748054:51748276:51749589:51749742:51751132:51751234	51749589:51749742	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3,ENST00000603680.1,ENST00000603641.1
exon_skip_92273	12	51751132:51751234:51751913:51752045:51752915:51753067	51751913:51752045	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3,ENST00000603680.1,ENST00000603641.1
exon_skip_92286	12	51752915:51753116:51754504:51754622:51757904:51758139	51754504:51754622	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3
exon_skip_92289	12	51757904:51758139:51759213:51759363:51770978:51771151	51759213:51759363	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3,ENST00000603641.1
exon_skip_92290	12	51759213:51759363:51770978:51771151:51773074:51773565	51770978:51771151	ENSG00000139629.11	ENST00000543196.2,ENST00000356317.3,ENST00000603641.1
exon_skip_92291	12	51773624:51773668:51776096:51776293:51777244:51777347	51776096:51776293	ENSG00000139629.11	ENST00000604506.1,ENST00000603203.1,ENST00000605089.1
exon_skip_92298	12	51773624:51773668:51777244:51777366:51784633:51784721	51777244:51777366	ENSG00000139629.11	ENST00000605617.1,ENST00000603188.1,ENST00000603563.1,ENST00000605055.1
exon_skip_92301	12	51773624:51773668:51777244:51777366:51785384:51785413	51777244:51777366	ENSG00000139629.11	ENST00000605822.1
exon_skip_92321	12	51777285:51777366:51784633:51784721:51784865:51784979	51784633:51784721	ENSG00000139629.11	ENST00000603563.1,ENST00000605055.1
exon_skip_92322	12	51777285:51777366:51784633:51784721:51785070:51785174	51784633:51784721	ENSG00000139629.11	ENST00000605089.1
exon_skip_92323	12	51777285:51777366:51784633:51784721:51785138:51785218	51784633:51784721	ENSG00000139629.11	ENST00000603188.1
exon_skip_92324	12	51777285:51777366:51784633:51784721:51785384:51785413	51784633:51784721	ENSG00000139629.11	ENST00000605617.1,ENST00000605138.1,ENST00000603203.1
exon_skip_92336	12	51784633:51784721:51784865:51784979:51785384:51785413	51784865:51784979	ENSG00000139629.11	ENST00000605055.1

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 GALNT6

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
ENST00000356317	51754504	51754622	Frame-shift
ENST00000543196	51754504	51754622	Frame-shift
ENST00000356317	51770978	51771151	Frame-shift
ENST00000543196	51770978	51771151	Frame-shift
ENST00000356317	51749589	51749742	In-frame
ENST00000543196	51749589	51749742	In-frame
ENST00000356317	51751913	51752045	In-frame
ENST00000543196	51751913	51752045	In-frame
ENST00000356317	51759213	51759363	In-frame
ENST00000543196	51759213	51759363	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
ENST00000356317	51754504	51754622	Frame-shift
ENST00000543196	51754504	51754622	Frame-shift
ENST00000356317	51770978	51771151	Frame-shift
ENST00000543196	51770978	51771151	Frame-shift
ENST00000356317	51749589	51749742	In-frame
ENST00000543196	51749589	51749742	In-frame
ENST00000356317	51751913	51752045	In-frame
ENST00000543196	51751913	51752045	In-frame
ENST00000356317	51759213	51759363	In-frame
ENST00000543196	51759213	51759363	In-frame

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Infer the effects of exon skipping event on protein functional features for GALNT6

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
ENST00000356317	2826	622	51759213	51759363	979	1128	221	271
ENST00000543196	5224	622	51759213	51759363	871	1020	221	271
ENST00000356317	2826	622	51751913	51752045	1683	1814	456	500
ENST00000543196	5224	622	51751913	51752045	1575	1706	456	500
ENST00000356317	2826	622	51749589	51749742	1917	2069	534	585
ENST00000543196	5224	622	51749589	51749742	1809	1961	534	585

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
ENST00000356317	2826	622	51759213	51759363	979	1128	221	271
ENST00000543196	5224	622	51759213	51759363	871	1020	221	271
ENST00000356317	2826	622	51751913	51752045	1683	1814	456	500
ENST00000543196	5224	622	51751913	51752045	1575	1706	456	500
ENST00000356317	2826	622	51749589	51749742	1917	2069	534	585
ENST00000543196	5224	622	51749589	51749742	1809	1961	534	585

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
Q8NCL4	221	271	246	246	Binding site	Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	246	246	Binding site	Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	221	271	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	221	271	165	402	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	221	271	165	402	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	221	271	269	269	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	269	269	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	271	271	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	271	271	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	176	285	Region	Note=Catalytic subdomain A
Q8NCL4	221	271	176	285	Region	Note=Catalytic subdomain A
Q8NCL4	221	271	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	221	271	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	456	500	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	456	500	393	474	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	393	474	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	476	476	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	476	476	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	534	585	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	534	585	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	534	585	553	566	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	553	566	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	551	551	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NCL4	534	585	551	551	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NCL4	534	585	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	534	585	29	622	Topological domain	Note=Lumenal;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
Q8NCL4	221	271	246	246	Binding site	Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	246	246	Binding site	Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	221	271	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	221	271	165	402	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	221	271	165	402	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	221	271	269	269	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	269	269	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	271	271	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	271	271	Metal binding	Note=Manganese;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8NCL4	221	271	176	285	Region	Note=Catalytic subdomain A
Q8NCL4	221	271	176	285	Region	Note=Catalytic subdomain A
Q8NCL4	221	271	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	221	271	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	456	500	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	456	500	393	474	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	393	474	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	456	500	476	476	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	476	476	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	456	500	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	534	585	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	534	585	1	622	Chain	ID=PRO_0000059114;Note=Polypeptide N-acetylgalactosaminyltransferase 6
Q8NCL4	534	585	553	566	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	553	566	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	496	622	Domain	Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00174
Q8NCL4	534	585	551	551	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NCL4	534	585	551	551	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NCL4	534	585	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NCL4	534	585	29	622	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for GALNT6

- 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
KIRP	TCGA-HE-A5NI-01	exon_skip_92273	51751914	51752045	51751976	51751982	Frame_Shift_Del	ACCAGGA	-	p.478_480del
KIRP	TCGA-HE-A5NI-01	exon_skip_92273	51751914	51752045	51751976	51751982	Frame_Shift_Del	ACCAGGA	-	p.S478fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_92290	51770979	51771151	51771119	51771119	Frame_Shift_Del	G	-	p.P175fs
STAD	TCGA-BR-8372-01	exon_skip_92290	51770979	51771151	51771119	51771119	Frame_Shift_Del	G	-	p.P175fs
KICH	TCGA-KN-8428-01	exon_skip_92273	51751914	51752045	51752021	51752021	Nonsense_Mutation	G	A	p.R465*
KICH	TCGA-KN-8428-01	exon_skip_92273	51751914	51752045	51752021	51752021	Nonsense_Mutation	G	A	p.R465X

- 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
HCC2218_BREAST	51752916	51753116	51752960	51752962	In_Frame_Del	TCT	-	p.K441del
HCC2218_MATCHED_NORMAL_TISSUE	51752916	51753116	51752960	51752962	In_Frame_Del	TCT	-	p.K441del
NCIBL209_MATCHED_NORMAL_TISSUE	51752916	51753116	51752960	51752962	In_Frame_Del	TCT	-	p.K441del
HCC15_LUNG	51749590	51749742	51749700	51749700	Missense_Mutation	C	T	p.A549T
CW2_LARGE_INTESTINE	51749590	51749742	51749708	51749708	Missense_Mutation	T	C	p.H546R
DU145_PROSTATE	51751914	51752045	51751923	51751923	Missense_Mutation	G	T	p.F497L
MCC26_SKIN	51751914	51752045	51751942	51751943	Missense_Mutation	GG	AA	p.P491F
MCC26_SKIN	51751914	51752045	51751942	51751942	Missense_Mutation	G	A	p.P491L
MCC26_SKIN	51751914	51752045	51751943	51751943	Missense_Mutation	G	A	p.P491S
SW156_KIDNEY	51751914	51752045	51751958	51751958	Missense_Mutation	G	C	p.P486A
GOS3_CENTRAL_NERVOUS_SYSTEM	51751914	51752045	51752041	51752042	Missense_Mutation	GA	TG	p.S458H
NTERA2CLD1_TESTIS	51752916	51753116	51752953	51752953	Missense_Mutation	T	A	p.Y444F
LU165_LUNG	51752916	51753116	51753062	51753062	Missense_Mutation	C	T	p.V408M
MDAMB134VI_BREAST	51754505	51754622	51754544	51754544	Missense_Mutation	C	T	p.M376I
NCIH720_LUNG	51754505	51754622	51754593	51754593	Missense_Mutation	G	A	p.S360F
RKO_LARGE_INTESTINE	51759214	51759363	51759231	51759231	Missense_Mutation	G	A	p.T266M
CHLA32_BONE	51759214	51759363	51759271	51759271	Missense_Mutation	G	A	p.R253W
2313287_STOMACH	51759214	51759363	51759274	51759274	Missense_Mutation	C	A	p.A252S
CAL12T_LUNG	51759214	51759363	51759291	51759291	Missense_Mutation	C	T	p.R246Q
SNU1040_LARGE_INTESTINE	51759214	51759363	51759304	51759304	Missense_Mutation	G	A	p.R242W
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51770979	51771151	51771045	51771045	Missense_Mutation	C	T	p.V200I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51770979	51771151	51771114	51771114	Missense_Mutation	C	G	p.A177P
T3M10_LUNG	51770979	51771151	51771123	51771123	Missense_Mutation	G	A	p.P174S
LS180_LARGE_INTESTINE	51770979	51771151	51771147	51771147	Missense_Mutation	C	T	p.V166M
HCC2998_LARGE_INTESTINE	51759214	51759363	51759335	51759335	Nonsense_Mutation	G	T	p.Y231*
KNS62_LUNG	51770979	51771151	51771150	51771150	Splice_Site	A	T	p.C165S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GALNT6

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 GALNT6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GALNT6

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RelatedDrugs for GALNT6

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 GALNT6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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Gene summary for GALNT6

Exon skipping events across known transcript of Ensembl for GALNT6 from UCSC genome browser

Gene isoform structures and expression levels for GALNT6

Exon skipping events with PSIs in TCGA for GALNT6

Exon skipping events with PSIs in GTEx for GALNT6

Open reading frame (ORF) annotation in the exon skipping event for GALNT6

Infer the effects of exon skipping event on protein functional features for GALNT6

SNVs in the skipped exons for GALNT6

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GALNT6

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GALNT6

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GALNT6

RelatedDrugs for GALNT6

RelatedDiseases for GALNT6