ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GAS7

Gene summary

Gene information	Gene symbol	GAS7
	Gene ID	8522
	Gene name	growth arrest specific 7
	Synonyms	-
	Cytomap	17p13.1
	Type of gene	protein-coding
	Description	growth arrest-specific protein 7
	Modification date	20180523
	UniProtAcc	O60861
	Context	PubMed: GAS7 [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 GAS7 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 GAS7

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 GAS7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286664	17	9830046:9830086:9837482:9837561:9843442:9843517	9837482:9837561	ENSG00000007237.14	ENST00000585266.1,ENST00000580865.1,ENST00000437099.2,ENST00000542249.1,ENST00000579158.1,ENST00000580811.1,ENST00000323816.4,ENST00000432992.2,ENST00000581871.1
exon_skip_286665	17	9837482:9837561:9843442:9843517:9846437:9846553	9843442:9843517	ENSG00000007237.14	ENST00000585266.1,ENST00000580865.1,ENST00000437099.2,ENST00000542249.1,ENST00000579158.1,ENST00000580811.1,ENST00000323816.4,ENST00000432992.2,ENST00000581871.1
exon_skip_286666	17	9862532:9862572:9872993:9873079:9885120:9885201	9872993:9873079	ENSG00000007237.14	ENST00000540214.1,ENST00000585266.1,ENST00000578599.1,ENST00000584389.1,ENST00000396115.2,ENST00000437099.2,ENST00000584146.2,ENST00000542249.1,ENST00000579158.1,ENST00000323816.4,ENST00000432992.2,ENST00000580043.1
exon_skip_286668	17	9862532:9862572:9885120:9885201:9923093:9923214	9885120:9885201	ENSG00000007237.14	ENST00000578655.1
exon_skip_286669	17	9872993:9873079:9885120:9885201:9923093:9923211	9885120:9885201	ENSG00000007237.14	ENST00000540214.1,ENST00000585266.1,ENST00000578599.1,ENST00000584389.1,ENST00000396115.2,ENST00000437099.2,ENST00000584146.2,ENST00000542249.1,ENST00000579158.1,ENST00000323816.4,ENST00000432992.2,ENST00000580043.1
exon_skip_286675	17	9923093:9923214:9930336:9930416:9939750:9939854	9930336:9930416	ENSG00000007237.14	ENST00000584146.2
exon_skip_286678	17	9923093:9923214:9943058:9943112:10017758:10017870	9943058:9943112	ENSG00000007237.14	ENST00000323816.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GAS7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286664	17	9830046:9830086:9837482:9837561:9843442:9843517	9837482:9837561	ENSG00000007237.14	ENST00000437099.2,ENST00000323816.4,ENST00000432992.2,ENST00000585266.1,ENST00000580865.1,ENST00000542249.1,ENST00000579158.1,ENST00000581871.1,ENST00000580811.1
exon_skip_286665	17	9837482:9837561:9843442:9843517:9846437:9846553	9843442:9843517	ENSG00000007237.14	ENST00000437099.2,ENST00000323816.4,ENST00000432992.2,ENST00000585266.1,ENST00000580865.1,ENST00000542249.1,ENST00000579158.1,ENST00000581871.1,ENST00000580811.1
exon_skip_286666	17	9862532:9862572:9872993:9873079:9885120:9885201	9872993:9873079	ENSG00000007237.14	ENST00000437099.2,ENST00000323816.4,ENST00000432992.2,ENST00000540214.1,ENST00000585266.1,ENST00000542249.1,ENST00000396115.2,ENST00000579158.1,ENST00000584146.2,ENST00000578599.1,ENST00000584389.1,ENST00000580043.1
exon_skip_286668	17	9862532:9862572:9885120:9885201:9923093:9923214	9885120:9885201	ENSG00000007237.14	ENST00000578655.1
exon_skip_286669	17	9872993:9873079:9885120:9885201:9923093:9923211	9885120:9885201	ENSG00000007237.14	ENST00000437099.2,ENST00000323816.4,ENST00000432992.2,ENST00000540214.1,ENST00000585266.1,ENST00000542249.1,ENST00000396115.2,ENST00000579158.1,ENST00000584146.2,ENST00000578599.1,ENST00000584389.1,ENST00000580043.1
exon_skip_286675	17	9923093:9923214:9930336:9930416:9939750:9939854	9930336:9930416	ENSG00000007237.14	ENST00000584146.2
exon_skip_286678	17	9923093:9923214:9943058:9943112:10017758:10017870	9943058:9943112	ENSG00000007237.14	ENST00000323816.4

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 GAS7

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
ENST00000437099	9837482	9837561	Frame-shift
ENST00000542249	9837482	9837561	Frame-shift
ENST00000579158	9837482	9837561	Frame-shift
ENST00000437099	9872993	9873079	Frame-shift
ENST00000542249	9872993	9873079	Frame-shift
ENST00000579158	9872993	9873079	Frame-shift
ENST00000437099	9843442	9843517	In-frame
ENST00000542249	9843442	9843517	In-frame
ENST00000579158	9843442	9843517	In-frame
ENST00000437099	9885120	9885201	In-frame
ENST00000542249	9885120	9885201	In-frame
ENST00000579158	9885120	9885201	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
ENST00000437099	9837482	9837561	Frame-shift
ENST00000542249	9837482	9837561	Frame-shift
ENST00000579158	9837482	9837561	Frame-shift
ENST00000437099	9872993	9873079	Frame-shift
ENST00000542249	9872993	9873079	Frame-shift
ENST00000579158	9872993	9873079	Frame-shift
ENST00000437099	9843442	9843517	In-frame
ENST00000542249	9843442	9843517	In-frame
ENST00000579158	9843442	9843517	In-frame
ENST00000437099	9885120	9885201	In-frame
ENST00000542249	9885120	9885201	In-frame
ENST00000579158	9885120	9885201	In-frame

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Infer the effects of exon skipping event on protein functional features for GAS7

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
ENST00000437099	8020	476	9885120	9885201	258	338	37	64
ENST00000542249	1816	476	9885120	9885201	281	361	37	64
ENST00000579158	1545	476	9885120	9885201	227	307	37	64
ENST00000437099	8020	476	9843442	9843517	685	759	180	204
ENST00000542249	1816	476	9843442	9843517	708	782	180	204
ENST00000579158	1545	476	9843442	9843517	654	728	180	204

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
ENST00000437099	8020	476	9885120	9885201	258	338	37	64
ENST00000542249	1816	476	9885120	9885201	281	361	37	64
ENST00000579158	1545	476	9885120	9885201	227	307	37	64
ENST00000437099	8020	476	9843442	9843517	685	759	180	204
ENST00000542249	1816	476	9843442	9843517	708	782	180	204
ENST00000579158	1545	476	9843442	9843517	654	728	180	204

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
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077

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
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	140	Alternative sequence	ID=VSP_006802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.1;Dbxref=PMID:14702039
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	64	Alternative sequence	ID=VSP_035988;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9455477,ECO:0000303\|Ref.4;Dbxref=PMID:15489334,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	1	60	Alternative sequence	ID=VSP_044294;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	61	61	Alternative sequence	ID=VSP_044295;Note=In isoform 4. E->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9455477;Dbxref=PMID:14702039,PMID:9455477
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	40	43	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	49	52	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	57	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	1	62	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	37	64	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LX7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	1	476	Chain	ID=PRO_0000076057;Note=Growth arrest-specific protein 7
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
O60861	180	204	196	456	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077

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SNVs in the skipped exons for GAS7

- 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
LUSC	TCGA-66-2800-01	exon_skip_286664	9837483	9837561	9837542	9837542	Frame_Shift_Del	C	-	p.A276fs

- 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
HCC15_LUNG	9837483	9837561	9837537	9837537	Missense_Mutation	C	A	p.Q277H
BICR18_UPPER_AERODIGESTIVE_TRACT	9843443	9843517	9843456	9843456	Missense_Mutation	A	C	p.S265A
DU145_PROSTATE	9843443	9843517	9843459	9843459	Missense_Mutation	C	A	p.A264S
BICR18_UPPER_AERODIGESTIVE_TRACT	9843443	9843517	9843499	9843499	Missense_Mutation	G	T	p.D250E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9872994	9873079	9873020	9873020	Missense_Mutation	C	G	p.V149L
BICR18_UPPER_AERODIGESTIVE_TRACT	9872994	9873079	9873020	9873020	Missense_Mutation	C	G	p.V149L
HCC2450_LUNG	9872994	9873079	9873041	9873041	Missense_Mutation	G	T	p.P142T
NCIH460_LUNG	9872994	9873079	9873053	9873053	Missense_Mutation	G	T	p.P138T
SNU407_LARGE_INTESTINE	9872994	9873079	9873065	9873065	Missense_Mutation	C	T	p.A134T
BICR18_UPPER_AERODIGESTIVE_TRACT	9885121	9885201	9885127	9885127	Missense_Mutation	G	T	p.P127T
BICR18_UPPER_AERODIGESTIVE_TRACT	9885121	9885201	9885148	9885148	Missense_Mutation	A	G	p.S120P
NCIH1573_LUNG	9885121	9885201	9885153	9885153	Missense_Mutation	G	A	p.P118L
HEC151_ENDOMETRIUM	9885121	9885201	9885160	9885160	Missense_Mutation	C	T	p.A116T
BICR18_UPPER_AERODIGESTIVE_TRACT	9885121	9885201	9885163	9885163	Missense_Mutation	G	A	p.P115S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GAS7

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 GAS7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GAS7

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RelatedDrugs for GAS7

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 GAS7

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GAS7	C0028754	Obesity	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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