ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SMG7

Gene summary

Gene information	Gene symbol	SMG7
	Gene ID	9887
	Gene name	SMG7, nonsense mediated mRNA decay factor
	Synonyms	C1orf16\|EST1C\|SGA56M
	Cytomap	1q25.3
	Type of gene	protein-coding
	Description	protein SMG7EST1 telomerase component homolog CEST1-like protein Cbreast cancer-associated antigen SGA-56Mever shorter telomeres 1Csmg-7 homolog, nonsense mediated mRNA decay factor
	Modification date	20180523
	UniProtAcc	Q92540
	Context	PubMed: SMG7 [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 SMG7 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 SMG7

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 SMG7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_14740	1	183441701:183441784:183470265:183470402:183471387:183471526	183470265:183470402	ENSG00000116698.16	ENST00000507691.2
exon_skip_14743	1	183441701:183441784:183471387:183471526:183481971:183482003	183471387:183471526	ENSG00000116698.16	ENST00000367537.3
exon_skip_14747	1	183441701:183441784:183481971:183482003:183485008:183485029	183481971:183482003	ENSG00000116698.16	ENST00000515829.2,ENST00000507469.1,ENST00000444547.2,ENST00000347615.2,ENST00000456731.2,ENST00000367538.1
exon_skip_14749	1	183441701:183441784:183485008:183485126:183486822:183486955	183485008:183485126	ENSG00000116698.16	ENST00000508461.1,ENST00000419169.1
exon_skip_14753	1	183442855:183443033:183470265:183470402:183471387:183471526	183470265:183470402	ENSG00000116698.16	ENST00000502375.1
exon_skip_14757	1	183471422:183471526:183481971:183482003:183485008:183485029	183481971:183482003	ENSG00000116698.16	ENST00000502375.1,ENST00000507691.2,ENST00000367537.3
exon_skip_14760	1	183495730:183495902:183496760:183496866:183497090:183497162	183496760:183496866	ENSG00000116698.16	ENST00000440812.3
exon_skip_14763	1	183502810:183502967:183506279:183506350:183507514:183507575	183506279:183506350	ENSG00000116698.16	ENST00000508461.1,ENST00000515829.2,ENST00000507469.1,ENST00000419169.1,ENST00000347615.2,ENST00000456731.2,ENST00000367537.3
exon_skip_14764	1	183506279:183506350:183507514:183507575:183510118:183510238	183507514:183507575	ENSG00000116698.16	ENST00000508461.1,ENST00000515829.2,ENST00000507469.1,ENST00000419169.1,ENST00000347615.2,ENST00000456731.2,ENST00000367537.3
exon_skip_14765	1	183514064:183514447:183515100:183515472:183516237:183516387	183515100:183515472	ENSG00000116698.16	ENST00000508461.1,ENST00000507469.1,ENST00000367537.3
exon_skip_14766	1	183514322:183514447:183515100:183515472:183518342:183518423	183515100:183515472	ENSG00000116698.16	ENST00000515829.2,ENST00000347615.2,ENST00000456731.2
exon_skip_14772	1	183515100:183515472:183516237:183516387:183518342:183518423	183516237:183516387	ENSG00000116698.16	ENST00000508461.1,ENST00000507469.1,ENST00000367537.3
exon_skip_14774	1	183515100:183515472:183518342:183518423:183518898:183519058	183518342:183518423	ENSG00000116698.16	ENST00000515829.2,ENST00000347615.2,ENST00000456731.2
exon_skip_14775	1	183516237:183516387:183518342:183518423:183518898:183519058	183518342:183518423	ENSG00000116698.16	ENST00000508461.1,ENST00000507469.1,ENST00000367537.3
exon_skip_14776	1	183518342:183518423:183518898:183519058:183519885:183520056	183518898:183519058	ENSG00000116698.16	ENST00000508461.1,ENST00000515829.2,ENST00000507469.1,ENST00000347615.2,ENST00000456731.2,ENST00000367537.3
exon_skip_14779	1	183519969:183520056:183520179:183520325:183520952:183521066	183520179:183520325	ENSG00000116698.16	ENST00000508461.1,ENST00000515829.2,ENST00000347615.2,ENST00000456731.2,ENST00000367537.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SMG7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_14740	1	183441701:183441784:183470265:183470402:183471387:183471526	183470265:183470402	ENSG00000116698.16	ENST00000507691.2
exon_skip_14743	1	183441701:183441784:183471387:183471526:183481971:183482003	183471387:183471526	ENSG00000116698.16	ENST00000367537.3
exon_skip_14747	1	183441701:183441784:183481971:183482003:183485008:183485029	183481971:183482003	ENSG00000116698.16	ENST00000456731.2,ENST00000444547.2,ENST00000347615.2,ENST00000507469.1,ENST00000515829.2,ENST00000367538.1
exon_skip_14749	1	183441701:183441784:183485008:183485126:183486822:183486955	183485008:183485126	ENSG00000116698.16	ENST00000508461.1,ENST00000419169.1
exon_skip_14753	1	183442855:183443033:183470265:183470402:183471387:183471526	183470265:183470402	ENSG00000116698.16	ENST00000502375.1
exon_skip_14757	1	183471422:183471526:183481971:183482003:183485008:183485029	183481971:183482003	ENSG00000116698.16	ENST00000367537.3,ENST00000507691.2,ENST00000502375.1
exon_skip_14760	1	183495730:183495902:183496760:183496866:183497090:183497162	183496760:183496866	ENSG00000116698.16	ENST00000440812.3
exon_skip_14763	1	183502810:183502967:183506279:183506350:183507514:183507575	183506279:183506350	ENSG00000116698.16	ENST00000456731.2,ENST00000367537.3,ENST00000508461.1,ENST00000419169.1,ENST00000347615.2,ENST00000507469.1,ENST00000515829.2
exon_skip_14764	1	183506279:183506350:183507514:183507575:183510118:183510238	183507514:183507575	ENSG00000116698.16	ENST00000456731.2,ENST00000367537.3,ENST00000508461.1,ENST00000419169.1,ENST00000347615.2,ENST00000507469.1,ENST00000515829.2
exon_skip_14765	1	183514064:183514447:183515100:183515472:183516237:183516387	183515100:183515472	ENSG00000116698.16	ENST00000367537.3,ENST00000508461.1,ENST00000507469.1
exon_skip_14766	1	183514322:183514447:183515100:183515472:183518342:183518423	183515100:183515472	ENSG00000116698.16	ENST00000456731.2,ENST00000347615.2,ENST00000515829.2
exon_skip_14772	1	183515100:183515472:183516237:183516387:183518342:183518423	183516237:183516387	ENSG00000116698.16	ENST00000367537.3,ENST00000508461.1,ENST00000507469.1
exon_skip_14774	1	183515100:183515472:183518342:183518423:183518898:183519058	183518342:183518423	ENSG00000116698.16	ENST00000456731.2,ENST00000347615.2,ENST00000515829.2
exon_skip_14775	1	183516237:183516387:183518342:183518423:183518898:183519058	183518342:183518423	ENSG00000116698.16	ENST00000367537.3,ENST00000508461.1,ENST00000507469.1
exon_skip_14776	1	183518342:183518423:183518898:183519058:183519885:183520056	183518898:183519058	ENSG00000116698.16	ENST00000456731.2,ENST00000367537.3,ENST00000508461.1,ENST00000347615.2,ENST00000507469.1,ENST00000515829.2
exon_skip_14779	1	183519969:183520056:183520179:183520325:183520952:183521066	183520179:183520325	ENSG00000116698.16	ENST00000456731.2,ENST00000367537.3,ENST00000508461.1,ENST00000347615.2,ENST00000515829.2

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 SMG7

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
ENST00000347615	183481971	183482003	Frame-shift
ENST00000347615	183506279	183506350	Frame-shift
ENST00000347615	183507514	183507575	Frame-shift
ENST00000347615	183518898	183519058	Frame-shift
ENST00000347615	183520179	183520325	Frame-shift
ENST00000347615	183515100	183515472	In-frame
ENST00000347615	183518342	183518423	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
ENST00000347615	183481971	183482003	Frame-shift
ENST00000347615	183506279	183506350	Frame-shift
ENST00000347615	183507514	183507575	Frame-shift
ENST00000347615	183518898	183519058	Frame-shift
ENST00000347615	183520179	183520325	Frame-shift
ENST00000347615	183515100	183515472	In-frame
ENST00000347615	183518342	183518423	In-frame

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Infer the effects of exon skipping event on protein functional features for SMG7

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
ENST00000347615	5805	1137	183515100	183515472	2490	2861	790	914
ENST00000347615	5805	1137	183518342	183518423	2862	2942	914	941

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
ENST00000347615	5805	1137	183515100	183515472	2490	2861	790	914
ENST00000347615	5805	1137	183518342	183518423	2862	2942	914	941

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

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

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SNVs in the skipped exons for SMG7

- 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.

SMG7_LIHC_exon_skip_14772_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
UCEC	TCGA-B5-A0K8-01	exon_skip_14749	183485009	183485126	183485014	183485015	Frame_Shift_Del	AA	-	p.K23fs
BLCA	TCGA-KQ-A41R-01	exon_skip_14763	183506280	183506350	183506287	183506300	Frame_Shift_Del	CCCTGGTTGATTTC	-	p.PWLIS420fs
LIHC	TCGA-DD-A1EG-01	exon_skip_14764	183507515	183507575	183507550	183507550	Frame_Shift_Del	T	-	p.F453fs
LIHC	TCGA-DD-A39Y-01	exon_skip_14764	183507515	183507575	183507550	183507550	Frame_Shift_Del	T	-	p.F453fs
LIHC	TCGA-DD-A3A0-01	exon_skip_14764	183507515	183507575	183507550	183507550	Frame_Shift_Del	T	-	p.F453fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_14764	183507515	183507575	183507550	183507550	Frame_Shift_Del	T	-	p.F453fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515137	183515137	Frame_Shift_Del	C	-	p.P787fs
LIHC	TCGA-DD-A3A0-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515214	183515214	Frame_Shift_Del	A	-	p.I811fs
COAD	TCGA-D5-6930-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515267	183515267	Frame_Shift_Del	A	-	p.E804fs
UCEC	TCGA-AP-A0LG-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515267	183515267	Frame_Shift_Del	A	-	p.E846fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_14772	183516238	183516387	183516314	183516314	Frame_Shift_Del	T	-	p.I923fs
LIHC	TCGA-DD-A39Y-01	exon_skip_14772	183516238	183516387	183516351	183516351	Frame_Shift_Del	G	-	p.L935fs
LIHC	TCGA-DD-A1EG-01	exon_skip_14772	183516238	183516387	183516383	183516383	Frame_Shift_Del	T	-	p.L946fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_14772	183516238	183516387	183516383	183516383	Frame_Shift_Del	T	-	p.L946fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_14776	183518899	183519058	183518941	183518941	Frame_Shift_Del	A	-	p.K989fs
HNSC	TCGA-CV-A6K1-01	exon_skip_14776	183518899	183519058	183518987	183518987	Frame_Shift_Del	C	-	p.A1004fs
ESCA	TCGA-L5-A8NQ-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.M803fs
HNSC	TCGA-CN-5356-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.E846fs
HNSC	TCGA-CN-5356-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
PRAD	TCGA-HC-7742-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
PRAD	TCGA-HI-7169-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
SKCM	TCGA-EE-A29A-06	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
TGCT	TCGA-XE-AAOF-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
TGCT	TCGA-ZM-AA05-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515266	183515267	Frame_Shift_Ins	-	A	p.K829fs
CESC	TCGA-EA-A5ZE-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515398	183515399	Frame_Shift_Ins	-	T	p.D845fs
HNSC	TCGA-QK-A8Z8-01	exon_skip_14776	183518899	183519058	183518986	183518987	Frame_Shift_Ins	-	T	p.P1004fs
UCEC	TCGA-AX-A0J1-01	exon_skip_14763	183506280	183506350	183506286	183506286	Nonsense_Mutation	G	A	p.W390*
BLCA	TCGA-MV-A51V-01	exon_skip_14763	183506280	183506350	183506339	183506339	Nonsense_Mutation	C	G	p.S437*
LIHC	TCGA-DD-AADD-01	exon_skip_14765 exon_skip_14766	183515101	183515472	183515342	183515342	Nonsense_Mutation	G	A	p.W871X
ESCA	TCGA-L5-A4OE-01	exon_skip_14776	183518899	183519058	183519019	183519019	Nonsense_Mutation	G	T	p.E1015*
ESCA	TCGA-L5-A4OE-01	exon_skip_14776	183518899	183519058	183519019	183519019	Nonsense_Mutation	G	T	p.E986*
ESCA	TCGA-L5-A4OE-01	exon_skip_14776	183518899	183519058	183519019	183519019	Nonsense_Mutation	G	T	p.E990X
COAD	TCGA-D5-6924-01	exon_skip_14775 exon_skip_14774	183518343	183518423	183518342	183518342	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_14764
	Skipped exon start: 183507515
	Skipped exon end: 183507575
	Mutation start: 183507550
	Mutation end: 183507550
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F453fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_14772
	Skipped exon start: 183516238
	Skipped exon end: 183516387
	Mutation start: 183516383
	Mutation end: 183516383
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L946fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png
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	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_14764
	Skipped exon start: 183507515
	Skipped exon end: 183507575
	Mutation start: 183507550
	Mutation end: 183507550
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F453fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_14772
	Skipped exon start: 183516238
	Skipped exon end: 183516387
	Mutation start: 183516351
	Mutation end: 183516351
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L935fs
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	Sample: TCGA-EA-A5ZE-01
	Cancer type: CESC
	ESID: exon_skip_14766
	Skipped exon start: 183515101
	Skipped exon end: 183515472
	Mutation start: 183515398
	Mutation end: 183515399
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.D845fs
exon_skip_14766_CESC_TCGA-EA-A5ZE-01.png
	Sample: TCGA-L5-A8NQ-01
	Cancer type: ESCA
	ESID: exon_skip_14766
	Skipped exon start: 183515101
	Skipped exon end: 183515472
	Mutation start: 183515266
	Mutation end: 183515267
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.M803fs
exon_skip_14766_ESCA_TCGA-L5-A8NQ-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
HCC2998_LARGE_INTESTINE	183485009	183485126	183485011	183485011	Missense_Mutation	T	C	p.S22P
NUGC3_STOMACH	183506280	183506350	183506324	183506324	Missense_Mutation	A	T	p.H403L
NCIH2110_LUNG	183507515	183507575	183507573	183507573	Missense_Mutation	C	A	p.F431L
BICR18_UPPER_AERODIGESTIVE_TRACT	183515101	183515472	183515152	183515152	Missense_Mutation	G	A	p.G808S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183515101	183515472	183515152	183515152	Missense_Mutation	G	A	p.G808S
BICR18_UPPER_AERODIGESTIVE_TRACT	183515101	183515472	183515185	183515185	Missense_Mutation	C	T	p.P819S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183515101	183515472	183515185	183515185	Missense_Mutation	C	T	p.P819S
COLO684_ENDOMETRIUM	183515101	183515472	183515204	183515204	Missense_Mutation	A	G	p.Q825R
BICR10_UPPER_AERODIGESTIVE_TRACT	183515101	183515472	183515223	183515223	Missense_Mutation	T	G	p.F831L
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183515101	183515472	183515228	183515228	Missense_Mutation	C	T	p.P833L
BICR18_UPPER_AERODIGESTIVE_TRACT	183515101	183515472	183515250	183515250	Missense_Mutation	G	A	p.M840I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183515101	183515472	183515250	183515250	Missense_Mutation	G	A	p.M840I
H2369_PLEURA	183515101	183515472	183515351	183515351	Missense_Mutation	C	G	p.S874C
639V_URINARY_TRACT	183515101	183515472	183515363	183515363	Missense_Mutation	C	T	p.A878V
SNUC4_LARGE_INTESTINE	183515101	183515472	183515390	183515390	Missense_Mutation	A	C	p.Q887P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	183515101	183515472	183515405	183515405	Missense_Mutation	G	A	p.R892H
TE4_OESOPHAGUS	183515101	183515472	183515405	183515405	Missense_Mutation	G	A	p.R892H
EN_ENDOMETRIUM	183515101	183515472	183515434	183515434	Missense_Mutation	C	A	p.R902S
PA1_OVARY	183518899	183519058	183518927	183518927	Missense_Mutation	A	G	p.N951S
HCC1428_BREAST	183518899	183519058	183518954	183518954	Missense_Mutation	C	G	p.S960C
RKO_LARGE_INTESTINE	183520180	183520325	183520231	183520231	Missense_Mutation	G	T	p.S1069I
OC316_OVARY	183520180	183520325	183520285	183520285	Missense_Mutation	C	T	p.S1087F
OC314_OVARY	183520180	183520325	183520285	183520285	Missense_Mutation	C	T	p.S1087F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183485009	183485126	183485056	183485056	Nonsense_Mutation	C	T	p.Q37*
UMUC14_URINARY_TRACT	183515101	183515472	183515143	183515143	Nonsense_Mutation	C	T	p.Q805*
253J_URINARY_TRACT	183485009	183485126	183485010	183485010	Splice_Site	T	C	p.D21D
253JBV_URINARY_TRACT	183485009	183485126	183485010	183485010	Splice_Site	T	C	p.D21D
MEWO_SKIN	183520180	183520325	183520181	183520181	Splice_Site	C	T	p.A1052A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMG7

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 SMG7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMG7

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RelatedDrugs for SMG7

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 SMG7

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 SMG7

Exon skipping events across known transcript of Ensembl for SMG7 from UCSC genome browser

Gene isoform structures and expression levels for SMG7

Exon skipping events with PSIs in TCGA for SMG7

Exon skipping events with PSIs in GTEx for SMG7

Open reading frame (ORF) annotation in the exon skipping event for SMG7

Infer the effects of exon skipping event on protein functional features for SMG7

SNVs in the skipped exons for SMG7

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMG7

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMG7

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMG7

RelatedDrugs for SMG7

RelatedDiseases for SMG7