ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GSPT1

Gene summary

Gene information	Gene symbol	GSPT1
	Gene ID	2935
	Gene name	G1 to S phase transition 1
	Synonyms	551G9.2\|ETF3A\|GST1\|eRF3a
	Cytomap	16p13.13
	Type of gene	protein-coding
	Description	eukaryotic peptide chain release factor GTP-binding subunit ERF3AG1 to S phase transition protein 1 homologeukaryotic peptide chain release factor subunit 3aeukaryotic release factor 3a
	Modification date	20180523
	UniProtAcc	P15170
	Context	PubMed: GSPT1 [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
GSPT1	GO:0006479	protein methylation	18539146

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Exon skipping events across known transcript of Ensembl for GSPT1 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 GSPT1

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 GSPT1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_142010	16	11966975:11967028:11969617:11969786:11969942:11970032	11969617:11969786	ENSG00000103342.8	ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142011	16	11966975:11967028:11969617:11969786:11971263:11971437	11969617:11969786	ENSG00000103342.8	ENST00000565267.1
exon_skip_142014	16	11969617:11969786:11969942:11970032:11971263:11971437	11969942:11970032	ENSG00000103342.8	ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142015	16	11969942:11970032:11971263:11971437:11976871:11976952	11971263:11971437	ENSG00000103342.8	ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142019	16	11971263:11971437:11976871:11976952:11979037:11979131	11976871:11976952	ENSG00000103342.8	ENST00000565267.1,ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142020	16	11980327:11980468:11980633:11980788:11981426:11981607	11980633:11980788	ENSG00000103342.8	ENST00000565267.1,ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142021	16	11980633:11980788:11981426:11981607:11984918:11984996	11981426:11981607	ENSG00000103342.8	ENST00000565267.1,ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142022	16	11981463:11981607:11984918:11984996:11988810:11988844	11984918:11984996	ENSG00000103342.8	ENST00000565267.1,ENST00000568849.1,ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142024	16	11984918:11984996:11988810:11988844:11990414:11990639	11988810:11988844	ENSG00000103342.8	ENST00000565267.1,ENST00000568849.1,ENST00000434724.2,ENST00000563468.1,ENST00000439887.2,ENST00000420576.2
exon_skip_142026	16	11988810:11988844:11990414:11990639:11991696:11991738	11990414:11990639	ENSG00000103342.8	ENST00000565267.1,ENST00000439887.2
exon_skip_142027	16	11988810:11988844:11990414:11990642:11991696:11991738	11990414:11990642	ENSG00000103342.8	ENST00000568849.1,ENST00000434724.2,ENST00000563468.1,ENST00000420576.2
exon_skip_142030	16	11990472:11990639:11991696:11991738:11991850:11991892	11991696:11991738	ENSG00000103342.8	ENST00000562169.1,ENST00000439887.2
exon_skip_142031	16	11990414:11990642:11991696:11991738:11991850:11991892	11991696:11991738	ENSG00000103342.8	ENST00000568849.1,ENST00000434724.2,ENST00000420576.2
exon_skip_142035	16	11991696:11991738:11991850:11991892:12009225:12009735	11991850:11991892	ENSG00000103342.8	ENST00000439887.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GSPT1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_142010	16	11966975:11967028:11969617:11969786:11969942:11970032	11969617:11969786	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000563468.1,ENST00000420576.2
exon_skip_142011	16	11966975:11967028:11969617:11969786:11971263:11971437	11969617:11969786	ENSG00000103342.8	ENST00000565267.1
exon_skip_142014	16	11969617:11969786:11969942:11970032:11971263:11971437	11969942:11970032	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000563468.1,ENST00000420576.2
exon_skip_142015	16	11969942:11970032:11971263:11971437:11976871:11976952	11971263:11971437	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000563468.1,ENST00000420576.2
exon_skip_142019	16	11971263:11971437:11976871:11976952:11979037:11979131	11976871:11976952	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000565267.1,ENST00000563468.1,ENST00000420576.2
exon_skip_142020	16	11980327:11980468:11980633:11980788:11981426:11981607	11980633:11980788	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000565267.1,ENST00000563468.1,ENST00000420576.2
exon_skip_142021	16	11980633:11980788:11981426:11981607:11984918:11984996	11981426:11981607	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000565267.1,ENST00000563468.1,ENST00000420576.2
exon_skip_142022	16	11981463:11981607:11984918:11984996:11988810:11988844	11984918:11984996	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000565267.1,ENST00000563468.1,ENST00000420576.2,ENST00000568849.1
exon_skip_142024	16	11984918:11984996:11988810:11988844:11990414:11990639	11988810:11988844	ENSG00000103342.8	ENST00000434724.2,ENST00000439887.2,ENST00000565267.1,ENST00000563468.1,ENST00000420576.2,ENST00000568849.1
exon_skip_142026	16	11988810:11988844:11990414:11990639:11991696:11991738	11990414:11990639	ENSG00000103342.8	ENST00000439887.2,ENST00000565267.1
exon_skip_142027	16	11988810:11988844:11990414:11990642:11991696:11991738	11990414:11990642	ENSG00000103342.8	ENST00000434724.2,ENST00000563468.1,ENST00000420576.2,ENST00000568849.1
exon_skip_142030	16	11990472:11990639:11991696:11991738:11991850:11991892	11991696:11991738	ENSG00000103342.8	ENST00000439887.2,ENST00000562169.1
exon_skip_142031	16	11990414:11990642:11991696:11991738:11991850:11991892	11991696:11991738	ENSG00000103342.8	ENST00000434724.2,ENST00000420576.2,ENST00000568849.1
exon_skip_142035	16	11991696:11991738:11991850:11991892:12009225:12009735	11991850:11991892	ENSG00000103342.8	ENST00000439887.2

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 GSPT1

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
ENST00000420576	11991696	11991738	3UTR-3CDS
ENST00000420576	11969617	11969786	Frame-shift
ENST00000563468	11969617	11969786	Frame-shift
ENST00000420576	11980633	11980788	Frame-shift
ENST00000563468	11980633	11980788	Frame-shift
ENST00000420576	11981426	11981607	Frame-shift
ENST00000563468	11981426	11981607	Frame-shift
ENST00000420576	11988810	11988844	Frame-shift
ENST00000563468	11988810	11988844	Frame-shift
ENST00000420576	11969942	11970032	In-frame
ENST00000563468	11969942	11970032	In-frame
ENST00000420576	11971263	11971437	In-frame
ENST00000563468	11971263	11971437	In-frame
ENST00000420576	11976871	11976952	In-frame
ENST00000563468	11976871	11976952	In-frame
ENST00000420576	11984918	11984996	In-frame
ENST00000563468	11984918	11984996	In-frame
ENST00000420576	11990414	11990642	In-frame
ENST00000563468	11990414	11990642	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
ENST00000420576	11991696	11991738	3UTR-3CDS
ENST00000420576	11969617	11969786	Frame-shift
ENST00000563468	11969617	11969786	Frame-shift
ENST00000420576	11980633	11980788	Frame-shift
ENST00000563468	11980633	11980788	Frame-shift
ENST00000420576	11981426	11981607	Frame-shift
ENST00000563468	11981426	11981607	Frame-shift
ENST00000420576	11988810	11988844	Frame-shift
ENST00000563468	11988810	11988844	Frame-shift
ENST00000420576	11969942	11970032	In-frame
ENST00000563468	11969942	11970032	In-frame
ENST00000420576	11971263	11971437	In-frame
ENST00000563468	11971263	11971437	In-frame
ENST00000420576	11976871	11976952	In-frame
ENST00000563468	11976871	11976952	In-frame
ENST00000420576	11984918	11984996	In-frame
ENST00000563468	11984918	11984996	In-frame
ENST00000420576	11990414	11990642	In-frame
ENST00000563468	11990414	11990642	In-frame

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Infer the effects of exon skipping event on protein functional features for GSPT1

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
ENST00000420576	1620	499	11990414	11990642	126	353	7	83
ENST00000563468	1979	499	11990414	11990642	50	277	7	83
ENST00000420576	1620	499	11984918	11984996	388	465	95	120
ENST00000563468	1979	499	11984918	11984996	312	389	95	120
ENST00000420576	1620	499	11976871	11976952	1037	1117	311	338
ENST00000563468	1979	499	11976871	11976952	961	1041	311	338
ENST00000420576	1620	499	11971263	11971437	1118	1291	338	396
ENST00000563468	1979	499	11971263	11971437	1042	1215	338	396
ENST00000420576	1620	499	11969942	11970032	1292	1381	396	426
ENST00000563468	1979	499	11969942	11970032	1216	1305	396	426

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
ENST00000420576	1620	499	11990414	11990642	126	353	7	83
ENST00000563468	1979	499	11990414	11990642	50	277	7	83
ENST00000420576	1620	499	11984918	11984996	388	465	95	120
ENST00000563468	1979	499	11984918	11984996	312	389	95	120
ENST00000420576	1620	499	11976871	11976952	1037	1117	311	338
ENST00000563468	1979	499	11976871	11976952	961	1041	311	338
ENST00000420576	1620	499	11971263	11971437	1118	1291	338	396
ENST00000563468	1979	499	11971263	11971437	1042	1215	338	396
ENST00000420576	1620	499	11969942	11970032	1292	1381	396	426
ENST00000563468	1979	499	11969942	11970032	1216	1305	396	426

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
P15170	7	83	8	8	Alternative sequence	ID=VSP_042199;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15170	7	83	8	8	Alternative sequence	ID=VSP_042199;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15170	7	83	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	7	83	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	7	83	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	81	88	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P15170	7	83	81	88	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P15170	7	83	81	88	Region	Note=G1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	81	88	Region	Note=G1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	95	120	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	95	120	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	95	120	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	95	120	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	311	338	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	311	338	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	338	396	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	338	396	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	396	426	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	396	426	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A

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
P15170	7	83	8	8	Alternative sequence	ID=VSP_042199;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15170	7	83	8	8	Alternative sequence	ID=VSP_042199;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15170	7	83	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	7	83	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	7	83	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	81	88	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P15170	7	83	81	88	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P15170	7	83	81	88	Region	Note=G1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	7	83	81	88	Region	Note=G1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	95	120	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	95	120	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	95	120	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	95	120	72	298	Domain	Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01059
P15170	311	338	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	311	338	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	338	396	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	338	396	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	396	426	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A
P15170	396	426	1	499	Chain	ID=PRO_0000091480;Note=Eukaryotic peptide chain release factor GTP-binding subunit ERF3A

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SNVs in the skipped exons for GSPT1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_142011 exon_skip_142010	11969618	11969786	11969747	11969747	Frame_Shift_Del	T	-	p.S578fs
LIHC	TCGA-DD-A39Y-01	exon_skip_142011 exon_skip_142010	11969618	11969786	11969760	11969760	Frame_Shift_Del	T	-	p.K573fs
STAD	TCGA-HU-A4GN-01	exon_skip_142011 exon_skip_142010	11969618	11969786	11969760	11969760	Frame_Shift_Del	T	-	p.S436fs
STAD	TCGA-KB-A6F7-01	exon_skip_142014	11969943	11970032	11969978	11969985	Frame_Shift_Del	GCAGCACC	-	p.AVLH550fs
LIHC	TCGA-DD-A1EG-01	exon_skip_142015	11971264	11971437	11971379	11971379	Frame_Shift_Del	G	-	p.P496fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_142021	11981427	11981607	11981470	11981470	Frame_Shift_Del	G	-	p.P305fs
LIHC	TCGA-DD-A39Y-01	exon_skip_142021	11981427	11981607	11981555	11981555	Frame_Shift_Del	T	-	p.T277fs
LIHC	TCGA-DD-A39Y-01	exon_skip_142021	11981427	11981607	11981559	11981559	Frame_Shift_Del	A	-	p.G275fs
KIRC	TCGA-A3-3365-01	exon_skip_142022	11984919	11984996	11984971	11984971	Frame_Shift_Del	T	-	p.R242fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142026	11990415	11990639	11990488	11990488	Frame_Shift_Del	T	-	p.K197fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142027	11990415	11990642	11990488	11990488	Frame_Shift_Del	T	-	p.K197fs
LIHC	TCGA-DD-A1EG-01	exon_skip_142026	11990415	11990639	11990564	11990564	Frame_Shift_Del	C	-	p.G173fs
LIHC	TCGA-DD-A1EG-01	exon_skip_142027	11990415	11990642	11990564	11990564	Frame_Shift_Del	C	-	p.G173fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142026	11990415	11990639	11990564	11990564	Frame_Shift_Del	C	-	p.G173fs
LIHC	TCGA-DD-A3A0-01	exon_skip_142027	11990415	11990642	11990564	11990564	Frame_Shift_Del	C	-	p.G173fs
LIHC	TCGA-2Y-A9H9-01	exon_skip_142031 exon_skip_142030	11991697	11991738	11991733	11991750	Frame_Shift_Del	TTGAACCTAGACAAGAGA	-	p.132_134del
LGG	TCGA-HT-A61B-01	exon_skip_142021	11981427	11981607	11981588	11981589	Frame_Shift_Ins	-	T	p.D265fs
LGG	TCGA-HT-A61B-01	exon_skip_142021	11981427	11981607	11981588	11981589	Frame_Shift_Ins	-	T	p.H266fs
BRCA	TCGA-B6-A0WV-01	exon_skip_142024	11988811	11988844	11988808	11988809	Splice_Site	-	A	e5+2

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-2Y-A9H9-01
	Cancer type: LIHC
	ESID: exon_skip_142030
	Skipped exon start: 11991697
	Skipped exon end: 11991738
	Mutation start: 11991733
	Mutation end: 11991750
	Mutation type: Frame_Shift_Del
	Reference seq: TTGAACCTAGACAAGAGA
	Mutation seq: -
	AAchange: p.132_134del
exon_skip_142030_LIHC_TCGA-2Y-A9H9-01.png
exon_skip_142031_LIHC_TCGA-2Y-A9H9-01.png
	Sample: TCGA-2Y-A9H9-01
	Cancer type: LIHC
	ESID: exon_skip_142030
	Skipped exon start: 11991697
	Skipped exon end: 11991738
	Mutation start: 11991733
	Mutation end: 11991750
	Mutation type: Frame_Shift_Del
	Reference seq: TTGAACCTAGACAAGAGA
	Mutation seq: -
	AAchange: p.132_134del
exon_skip_142030_LIHC_TCGA-2Y-A9H9-01.png
exon_skip_142031_LIHC_TCGA-2Y-A9H9-01.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
BICR18_UPPER_AERODIGESTIVE_TRACT	11971264	11971437	11971389	11971392	Frame_Shift_Del	TATC	-	p.DT354fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990639	11990564	11990564	Frame_Shift_Del	C	-	p.G35fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990642	11990564	11990564	Frame_Shift_Del	C	-	p.G35fs
BICR18_UPPER_AERODIGESTIVE_TRACT	11971264	11971437	11971396	11971397	Frame_Shift_Ins	-	CGTT	p.-353fs
S117_SOFT_TISSUE	11971264	11971437	11971396	11971397	Frame_Shift_Ins	-	CGTT	p.-353fs
CCK81_LARGE_INTESTINE	11990415	11990639	11990563	11990564	Frame_Shift_Ins	-	C	p.G34fs
CCK81_LARGE_INTESTINE	11990415	11990642	11990563	11990564	Frame_Shift_Ins	-	C	p.G34fs
HCC1569_BREAST	11969943	11970032	11969945	11969945	Missense_Mutation	T	C	p.T426A
NCIH358_LUNG	11969943	11970032	11969972	11969972	Missense_Mutation	G	A	p.H417Y
HEC59_ENDOMETRIUM	11971264	11971437	11971302	11971302	Missense_Mutation	T	C	p.N384D
SNUC1_LARGE_INTESTINE	11971264	11971437	11971374	11971374	Missense_Mutation	C	T	p.E360K
SKUT1_SOFT_TISSUE	11971264	11971437	11971386	11971386	Missense_Mutation	C	T	p.V356I
HCT15_LARGE_INTESTINE	11971264	11971437	11971388	11971388	Missense_Mutation	G	T	p.T355N
HEC59_ENDOMETRIUM	11971264	11971437	11971406	11971406	Missense_Mutation	T	C	p.D349G
CCK81_LARGE_INTESTINE	11976872	11976952	11976939	11976939	Missense_Mutation	A	T	p.V316E
SNU1040_LARGE_INTESTINE	11980634	11980788	11980704	11980704	Missense_Mutation	C	T	p.A210T
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11980634	11980788	11980737	11980737	Missense_Mutation	G	T	p.Q199K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11981427	11981607	11981494	11981494	Missense_Mutation	G	T	p.A159D
HCC2998_LARGE_INTESTINE	11981427	11981607	11981522	11981522	Missense_Mutation	C	T	p.E150K
HS939T_SKIN	11981427	11981607	11981565	11981565	Missense_Mutation	G	T	p.D135E
HT115_LARGE_INTESTINE	11984919	11984996	11984936	11984936	Missense_Mutation	C	A	p.E115D
NCIH2009_LUNG	11984919	11984996	11984977	11984977	Missense_Mutation	C	T	p.D102N
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990639	11990496	11990496	Missense_Mutation	T	C	p.I57V
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990642	11990496	11990496	Missense_Mutation	T	C	p.I57V
OVCA420_OVARY	11990415	11990639	11990496	11990496	Missense_Mutation	T	C	p.I57V
OVCA420_OVARY	11990415	11990642	11990496	11990496	Missense_Mutation	T	C	p.I57V
NB13_AUTONOMIC_GANGLIA	11990415	11990639	11990543	11990543	Missense_Mutation	C	G	p.R41T
NB13_AUTONOMIC_GANGLIA	11990415	11990642	11990543	11990543	Missense_Mutation	C	G	p.R41T
SNUC2A_LARGE_INTESTINE	11990415	11990639	11990610	11990610	Missense_Mutation	C	T	p.E19K
SNUC2A_LARGE_INTESTINE	11990415	11990642	11990610	11990610	Missense_Mutation	C	T	p.E19K
SNUC2B_LARGE_INTESTINE	11990415	11990639	11990610	11990610	Missense_Mutation	C	T	p.E19K
SNUC2B_LARGE_INTESTINE	11990415	11990642	11990610	11990610	Missense_Mutation	C	T	p.E19K
BICR18_UPPER_AERODIGESTIVE_TRACT	11991697	11991738	11991700	11991700	Missense_Mutation	T	C	p.I7V
S117_SOFT_TISSUE	11991697	11991738	11991700	11991700	Missense_Mutation	T	C	p.I7V
SNU81_LARGE_INTESTINE	11969618	11969786	11969753	11969753	Nonsense_Mutation	C	A	p.E438*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11981427	11981607	11981570	11981570	Nonsense_Mutation	G	A	p.R134*
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990639	11990484	11990484	Nonsense_Mutation	T	A	p.K61*
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11990415	11990642	11990484	11990484	Nonsense_Mutation	T	A	p.K61*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GSPT1

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 GSPT1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GSPT1

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RelatedDrugs for GSPT1

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 GSPT1

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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