ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DPAGT1

Gene summary

Gene information	Gene symbol	DPAGT1
	Gene ID	1798
	Gene name	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
	Synonyms	ALG7\|CDG-Ij\|CDG1J\|CMS13\|CMSTA2\|D11S366\|DGPT\|DPAGT\|DPAGT2\|G1PT\|GPT\|UAGT\|UGAT
	Cytomap	11q23.3
	Type of gene	protein-coding
	Description	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferaseGlcNAc-1-P transferase 1N-acetylglucosamine-1-phosphate transferaseUDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferaseUDP-N-acetylglucosamine--dolichyl-ph
	Modification date	20180523
	UniProtAcc	Q9H3H5
	Context	PubMed: DPAGT1 [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 DPAGT1 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 DPAGT1

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 DPAGT1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77978	11	118967667:118967773:118967851:118968007:118969112:118969145	118967851:118968007	ENSG00000172269.12	ENST00000414373.1
exon_skip_77982	11	118967851:118968007:118968173:118968261:118968564:118968635	118968173:118968261	ENSG00000172269.12	ENST00000432443.2,ENST00000442480.1,ENST00000481084.1,ENST00000354202.4,ENST00000409993.2,ENST00000392834.3
exon_skip_77987	11	118968173:118968261:118968564:118968635:118969112:118969145	118968564:118968635	ENSG00000172269.12	ENST00000442480.1
exon_skip_77989	11	118968173:118968261:118968564:118968753:118969112:118969145	118968564:118968753	ENSG00000172269.12	ENST00000432443.2,ENST00000481084.1,ENST00000354202.4,ENST00000409993.2,ENST00000392834.3,ENST00000524658.1
exon_skip_77993	11	118970971:118971118:118971339:118971553:118971727:118971751	118971339:118971553	ENSG00000172269.12	ENST00000354202.4,ENST00000409993.2
exon_skip_77996	11	118970971:118971118:118971339:118971553:118972204:118972487	118971339:118971553	ENSG00000172269.12	ENST00000432443.2,ENST00000392834.3
exon_skip_77997	11	118970971:118971118:118971339:118971587:118971727:118971757	118971339:118971587	ENSG00000172269.12	ENST00000414373.1
exon_skip_78027	11	118971339:118971553:118971727:118971757:118972204:118972487	118971727:118971757	ENSG00000172269.12	ENST00000445653.1
exon_skip_78030	11	118971339:118971553:118971727:118971848:118972204:118972487	118971727:118971848	ENSG00000172269.12	ENST00000354202.4,ENST00000409993.2
exon_skip_78038	11	118971339:118971587:118971727:118971848:118972204:118972487	118971727:118971848	ENSG00000172269.12	ENST00000414373.1
exon_skip_78039	11	118971727:118971848:118972204:118972487:118972813:118973058	118972204:118972487	ENSG00000172269.12	ENST00000409993.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DPAGT1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77978	11	118967667:118967773:118967851:118968007:118969112:118969145	118967851:118968007	ENSG00000172269.12	ENST00000414373.1
exon_skip_77982	11	118967851:118968007:118968173:118968261:118968564:118968635	118968173:118968261	ENSG00000172269.12	ENST00000409993.2,ENST00000354202.4,ENST00000392834.3,ENST00000481084.1,ENST00000432443.2,ENST00000442480.1
exon_skip_77987	11	118968173:118968261:118968564:118968635:118969112:118969145	118968564:118968635	ENSG00000172269.12	ENST00000442480.1
exon_skip_77989	11	118968173:118968261:118968564:118968753:118969112:118969145	118968564:118968753	ENSG00000172269.12	ENST00000409993.2,ENST00000354202.4,ENST00000392834.3,ENST00000481084.1,ENST00000432443.2,ENST00000524658.1
exon_skip_77993	11	118970971:118971118:118971339:118971553:118971727:118971751	118971339:118971553	ENSG00000172269.12	ENST00000409993.2,ENST00000354202.4
exon_skip_77996	11	118970971:118971118:118971339:118971553:118972204:118972487	118971339:118971553	ENSG00000172269.12	ENST00000392834.3,ENST00000432443.2
exon_skip_77997	11	118970971:118971118:118971339:118971587:118971727:118971757	118971339:118971587	ENSG00000172269.12	ENST00000414373.1
exon_skip_78027	11	118971339:118971553:118971727:118971757:118972204:118972487	118971727:118971757	ENSG00000172269.12	ENST00000445653.1
exon_skip_78030	11	118971339:118971553:118971727:118971848:118972204:118972487	118971727:118971848	ENSG00000172269.12	ENST00000409993.2,ENST00000354202.4
exon_skip_78038	11	118971339:118971587:118971727:118971848:118972204:118972487	118971727:118971848	ENSG00000172269.12	ENST00000414373.1
exon_skip_78039	11	118971727:118971848:118972204:118972487:118972813:118973058	118972204:118972487	ENSG00000172269.12	ENST00000409993.2

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 DPAGT1

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
ENST00000409993	118972204	118972487	3UTR-3CDS
ENST00000354202	118968173	118968261	Frame-shift
ENST00000409993	118968173	118968261	Frame-shift
ENST00000354202	118971339	118971553	Frame-shift
ENST00000409993	118971339	118971553	Frame-shift
ENST00000354202	118971727	118971848	Frame-shift
ENST00000409993	118971727	118971848	Frame-shift
ENST00000354202	118968564	118968753	In-frame
ENST00000409993	118968564	118968753	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
ENST00000409993	118972204	118972487	3UTR-3CDS
ENST00000354202	118968173	118968261	Frame-shift
ENST00000409993	118968173	118968261	Frame-shift
ENST00000354202	118971339	118971553	Frame-shift
ENST00000409993	118971339	118971553	Frame-shift
ENST00000354202	118971727	118971848	Frame-shift
ENST00000409993	118971727	118971848	Frame-shift
ENST00000354202	118968564	118968753	In-frame
ENST00000409993	118968564	118968753	In-frame

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Infer the effects of exon skipping event on protein functional features for DPAGT1

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
ENST00000354202	2222	408	118968564	118968753	1216	1404	243	305
ENST00000409993	3291	408	118968564	118968753	2281	2469	243	305

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
ENST00000354202	2222	408	118968564	118968753	1216	1404	243	305
ENST00000409993	3291	408	118968564	118968753	2281	2469	243	305

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
Q9H3H5	243	305	243	245	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	243	245	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	252	252	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	252	252	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	303	303	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000244\|PDB:6BW6,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	303	303	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000244\|PDB:6BW6,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	1	408	Chain	ID=PRO_0000108761;Note=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Q9H3H5	243	305	1	408	Chain	ID=PRO_0000108761;Note=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Q9H3H5	243	305	251	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	251	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	272	278	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	272	278	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	280	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	280	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	290	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	290	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	252	252	Mutagenesis	Note=Reduces binding to inhibitor. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	252	252	Mutagenesis	Note=Reduces binding to inhibitor. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	264	264	Natural variant	ID=VAR_068815;Note=In CMS13. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22742743;Dbxref=dbSNP:rs387907245,PMID:22742743
Q9H3H5	243	305	264	264	Natural variant	ID=VAR_068815;Note=In CMS13. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22742743;Dbxref=dbSNP:rs387907245,PMID:22742743
Q9H3H5	243	305	243	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	243	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	270	271	Topological domain	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	270	271	Topological domain	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	294	375	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	294	375	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	251	269	Transmembrane	Note=Helical%3B Name%3DHelix 8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	251	269	Transmembrane	Note=Helical%3B Name%3DHelix 8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	272	293	Transmembrane	Note=Helical%3B Name%3DHelix 9;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	272	293	Transmembrane	Note=Helical%3B Name%3DHelix 9;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785

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
Q9H3H5	243	305	243	245	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	243	245	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	252	252	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	252	252	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	303	303	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000244\|PDB:6BW6,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	303	303	Binding site	Note=Inhibitor;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BW5,ECO:0000244\|PDB:6BW6,ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	1	408	Chain	ID=PRO_0000108761;Note=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Q9H3H5	243	305	1	408	Chain	ID=PRO_0000108761;Note=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Q9H3H5	243	305	251	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	251	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	272	278	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	272	278	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	280	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	280	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	290	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	290	293	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BW6
Q9H3H5	243	305	252	252	Mutagenesis	Note=Reduces binding to inhibitor. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	252	252	Mutagenesis	Note=Reduces binding to inhibitor. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	264	264	Natural variant	ID=VAR_068815;Note=In CMS13. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22742743;Dbxref=dbSNP:rs387907245,PMID:22742743
Q9H3H5	243	305	264	264	Natural variant	ID=VAR_068815;Note=In CMS13. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22742743;Dbxref=dbSNP:rs387907245,PMID:22742743
Q9H3H5	243	305	243	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	243	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	270	271	Topological domain	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	270	271	Topological domain	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	294	375	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	294	375	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	251	269	Transmembrane	Note=Helical%3B Name%3DHelix 8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	251	269	Transmembrane	Note=Helical%3B Name%3DHelix 8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	272	293	Transmembrane	Note=Helical%3B Name%3DHelix 9;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785
Q9H3H5	243	305	272	293	Transmembrane	Note=Helical%3B Name%3DHelix 9;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29459785;Dbxref=PMID:29459785

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SNVs in the skipped exons for DPAGT1

- 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
BRCA	TCGA-A8-A097-01	exon_skip_77978	118967852	118968007	118967894	118967894	Frame_Shift_Del	G	-	p.I374fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_77987	118968565	118968635	118968631	118968631	Frame_Shift_Del	A	-	p.F284fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_77989	118968565	118968753	118968631	118968631	Frame_Shift_Del	A	-	p.F284fs
LIHC	TCGA-DD-A3A0-01	exon_skip_78039	118972205	118972487	118972221	118972221	Frame_Shift_Del	T	-	p.T49fs
COAD	TCGA-AU-6004-01	exon_skip_78039	118972205	118972487	118972239	118972240	Frame_Shift_Del	CA	-	p.43_43del
LIHC	TCGA-DD-A1EG-01	exon_skip_78039	118972205	118972487	118972284	118972284	Frame_Shift_Del	G	-	p.L28fs
BLCA	TCGA-K4-A83P-01	exon_skip_77989	118968565	118968753	118968638	118968638	Nonsense_Mutation	G	A	p.Q282*

- 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
DANG_PANCREAS	118967852	118968007	118967989	118967989	Missense_Mutation	G	C	p.L342V
BICR18_UPPER_AERODIGESTIVE_TRACT	118968174	118968261	118968205	118968205	Missense_Mutation	C	T	p.S325N
8305C_THYROID	118968565	118968635	118968589	118968589	Missense_Mutation	G	A	p.P298L
8305C_THYROID	118968565	118968753	118968589	118968589	Missense_Mutation	G	A	p.P298L
LOXIMVI_SKIN	118968565	118968635	118968590	118968590	Missense_Mutation	G	A	p.P298S
LOXIMVI_SKIN	118968565	118968753	118968590	118968590	Missense_Mutation	G	A	p.P298S
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118968565	118968753	118968689	118968689	Missense_Mutation	C	T	p.V265M
GP2D_LARGE_INTESTINE	118971340	118971553	118971362	118971362	Missense_Mutation	T	C	p.I158M
GP2D_LARGE_INTESTINE	118971340	118971587	118971362	118971362	Missense_Mutation	T	C	p.I158M
GP5D_LARGE_INTESTINE	118971340	118971553	118971362	118971362	Missense_Mutation	T	C	p.I158M
GP5D_LARGE_INTESTINE	118971340	118971587	118971362	118971362	Missense_Mutation	T	C	p.I158M
PCI4B_UPPER_AERODIGESTIVE_TRACT	118971340	118971553	118971366	118971366	Missense_Mutation	G	A	p.P157L
PCI4B_UPPER_AERODIGESTIVE_TRACT	118971340	118971587	118971366	118971366	Missense_Mutation	G	A	p.P157L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971340	118971553	118971402	118971402	Missense_Mutation	C	T	p.G145D
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971340	118971587	118971402	118971402	Missense_Mutation	C	T	p.G145D
ASH3_THYROID	118971340	118971553	118971435	118971435	Missense_Mutation	A	T	p.L134Q
ASH3_THYROID	118971340	118971587	118971435	118971435	Missense_Mutation	A	T	p.L134Q
SNU1040_LARGE_INTESTINE	118971340	118971553	118971469	118971469	Missense_Mutation	G	A	p.R123C
SNU1040_LARGE_INTESTINE	118971340	118971587	118971469	118971469	Missense_Mutation	G	A	p.R123C
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	118971340	118971553	118971483	118971483	Missense_Mutation	A	G	p.L118P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	118971340	118971587	118971483	118971483	Missense_Mutation	A	G	p.L118P
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971340	118971553	118971495	118971495	Missense_Mutation	G	A	p.A114V
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971340	118971587	118971495	118971495	Missense_Mutation	G	A	p.A114V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971728	118971757	118971760	118971760	Missense_Mutation	T	C	p.K84E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118971728	118971848	118971760	118971760	Missense_Mutation	T	C	p.K84E
BICR18_UPPER_AERODIGESTIVE_TRACT	118971728	118971757	118971760	118971760	Missense_Mutation	T	C	p.K84E
BICR18_UPPER_AERODIGESTIVE_TRACT	118971728	118971848	118971760	118971760	Missense_Mutation	T	C	p.K84E
BXPC3_PANCREAS	118971728	118971848	118971838	118971838	Missense_Mutation	G	T	p.Q58K
NCIH647_LUNG	118972205	118972487	118972326	118972326	Missense_Mutation	T	C	p.N14D
HCC38_BREAST	118972205	118972487	118972339	118972339	Missense_Mutation	C	T	p.M9I
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118972205	118972487	118972341	118972341	Missense_Mutation	T	A	p.M9L
HEC59_ENDOMETRIUM	118972205	118972487	118972358	118972358	Missense_Mutation	G	A	p.A3V
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118972205	118972487	118972360	118972360	Nonsense_Mutation	C	T	p.W2*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DPAGT1

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 DPAGT1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DPAGT1

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RelatedDrugs for DPAGT1

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 DPAGT1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DPAGT1	C0038356	Stomach Neoplasms	1	CTD_human
DPAGT1	C2931004	Congenital disorder of glycosylation type 1J	1	CTD_human;ORPHANET;UNIPROT
DPAGT1	C3553645	MYASTHENIC SYNDROME, CONGENITAL, 13	1	UNIPROT

	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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