ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ZC3H7A

Gene summary

Gene information	Gene symbol	ZC3H7A
	Gene ID	29066
	Gene name	zinc finger CCCH-type containing 7A
	Synonyms	HSPC055\|ZC3H7\|ZC3HDC7
	Cytomap	16p13.13
	Type of gene	protein-coding
	Description	zinc finger CCCH domain-containing protein 7Azinc finger CCCH-type domain containing 7zinc-finger protein AY163807
	Modification date	20180519
	UniProtAcc	Q8IWR0
	Context	PubMed: ZC3H7A [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 ZC3H7A 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 ZC3H7A

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 ZC3H7A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_141960	16	11844450:11845362:11846524:11846688:11850092:11850226	11846524:11846688	ENSG00000122299.7	ENST00000571405.1,ENST00000575984.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141963	16	11852286:11852395:11855261:11855367:11855765:11855899	11855261:11855367	ENSG00000122299.7	ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141964	16	11852286:11852395:11855323:11855367:11855765:11855899	11855323:11855367	ENSG00000122299.7	ENST00000571405.1
exon_skip_141967	16	11855803:11855899:11856526:11856603:11857333:11857515	11856526:11856603	ENSG00000122299.7	ENST00000571405.1,ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141970	16	11856526:11856603:11857333:11857515:11858908:11859009	11857333:11857515	ENSG00000122299.7	ENST00000571405.1,ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141971	16	11857333:11857515:11858908:11859009:11859344:11859417	11858908:11859009	ENSG00000122299.7	ENST00000571405.1,ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141976	16	11862170:11862357:11862886:11862951:11864638:11864697	11862886:11862951	ENSG00000122299.7	ENST00000571676.1,ENST00000576009.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141979	16	11862170:11862357:11864638:11864843:11868091:11868148	11864638:11864843	ENSG00000122299.7	ENST00000575041.1
exon_skip_141982	16	11868835:11868869:11870175:11870214:11870307:11870376	11870175:11870214	ENSG00000122299.7	ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141985	16	11870307:11870388:11870606:11870765:11873021:11873219	11870606:11870765	ENSG00000122299.7	ENST00000575170.1,ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141986	16	11870613:11870765:11873021:11873219:11875280:11875320	11873021:11873219	ENSG00000122299.7	ENST00000572870.1,ENST00000575170.1,ENST00000571198.1,ENST00000355758.4,ENST00000396516.2
exon_skip_141988	16	11876142:11876244:11890074:11890271:11890979:11891085	11890074:11890271	ENSG00000122299.7	ENST00000572781.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ZC3H7A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_141960	16	11844450:11845362:11846524:11846688:11850092:11850226	11846524:11846688	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000575984.1,ENST00000571405.1
exon_skip_141963	16	11852286:11852395:11855261:11855367:11855765:11855899	11855261:11855367	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571198.1
exon_skip_141964	16	11852286:11852395:11855323:11855367:11855765:11855899	11855323:11855367	ENSG00000122299.7	ENST00000571405.1
exon_skip_141967	16	11855803:11855899:11856526:11856603:11857333:11857515	11856526:11856603	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571405.1,ENST00000571198.1
exon_skip_141970	16	11856526:11856603:11857333:11857515:11858908:11859009	11857333:11857515	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571405.1,ENST00000571198.1
exon_skip_141971	16	11857333:11857515:11858908:11859009:11859344:11859417	11858908:11859009	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571405.1,ENST00000571198.1
exon_skip_141976	16	11862170:11862357:11862886:11862951:11864638:11864697	11862886:11862951	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571676.1,ENST00000576009.1
exon_skip_141979	16	11862170:11862357:11864638:11864843:11868091:11868148	11864638:11864843	ENSG00000122299.7	ENST00000575041.1
exon_skip_141982	16	11868835:11868869:11870175:11870214:11870307:11870376	11870175:11870214	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571198.1
exon_skip_141985	16	11870307:11870388:11870606:11870765:11873021:11873219	11870606:11870765	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571198.1,ENST00000575170.1
exon_skip_141986	16	11870613:11870765:11873021:11873219:11875280:11875320	11873021:11873219	ENSG00000122299.7	ENST00000396516.2,ENST00000355758.4,ENST00000571198.1,ENST00000575170.1,ENST00000572870.1
exon_skip_141988	16	11876142:11876244:11890074:11890271:11890979:11891085	11890074:11890271	ENSG00000122299.7	ENST00000572781.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ZC3H7A

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
ENST00000355758	11846524	11846688	Frame-shift
ENST00000396516	11846524	11846688	Frame-shift
ENST00000355758	11855261	11855367	Frame-shift
ENST00000396516	11855261	11855367	Frame-shift
ENST00000355758	11856526	11856603	Frame-shift
ENST00000396516	11856526	11856603	Frame-shift
ENST00000355758	11857333	11857515	Frame-shift
ENST00000396516	11857333	11857515	Frame-shift
ENST00000355758	11858908	11859009	Frame-shift
ENST00000396516	11858908	11859009	Frame-shift
ENST00000355758	11862886	11862951	Frame-shift
ENST00000396516	11862886	11862951	Frame-shift
ENST00000355758	11870175	11870214	In-frame
ENST00000396516	11870175	11870214	In-frame
ENST00000355758	11870606	11870765	In-frame
ENST00000396516	11870606	11870765	In-frame
ENST00000355758	11873021	11873219	In-frame
ENST00000396516	11873021	11873219	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
ENST00000355758	11846524	11846688	Frame-shift
ENST00000396516	11846524	11846688	Frame-shift
ENST00000355758	11855261	11855367	Frame-shift
ENST00000396516	11855261	11855367	Frame-shift
ENST00000355758	11856526	11856603	Frame-shift
ENST00000396516	11856526	11856603	Frame-shift
ENST00000355758	11857333	11857515	Frame-shift
ENST00000396516	11857333	11857515	Frame-shift
ENST00000355758	11858908	11859009	Frame-shift
ENST00000396516	11858908	11859009	Frame-shift
ENST00000355758	11862886	11862951	Frame-shift
ENST00000396516	11862886	11862951	Frame-shift
ENST00000355758	11870175	11870214	In-frame
ENST00000396516	11870175	11870214	In-frame
ENST00000355758	11870606	11870765	In-frame
ENST00000396516	11870606	11870765	In-frame
ENST00000355758	11873021	11873219	In-frame
ENST00000396516	11873021	11873219	In-frame

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Infer the effects of exon skipping event on protein functional features for ZC3H7A

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
ENST00000355758	3842	971	11873021	11873219	287	484	36	102
ENST00000396516	3862	971	11873021	11873219	307	504	36	102
ENST00000355758	3842	971	11870606	11870765	485	643	102	155
ENST00000396516	3862	971	11870606	11870765	505	663	102	155
ENST00000355758	3842	971	11870175	11870214	725	763	182	195
ENST00000396516	3862	971	11870175	11870214	745	783	182	195

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
ENST00000355758	3842	971	11873021	11873219	287	484	36	102
ENST00000396516	3862	971	11873021	11873219	307	504	36	102
ENST00000355758	3842	971	11870606	11870765	485	643	102	155
ENST00000396516	3862	971	11870606	11870765	505	663	102	155
ENST00000355758	3842	971	11870175	11870214	725	763	182	195
ENST00000396516	3862	971	11870175	11870214	745	783	182	195

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
Q8IWR0	36	102	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	36	102	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	36	102	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	36	102	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	36	102	57	57	Natural variant	ID=VAR_052633;Note=H->R;Dbxref=dbSNP:rs16958654
Q8IWR0	36	102	57	57	Natural variant	ID=VAR_052633;Note=H->R;Dbxref=dbSNP:rs16958654
Q8IWR0	36	102	43	76	Repeat	Note=TPR 1
Q8IWR0	36	102	43	76	Repeat	Note=TPR 1
Q8IWR0	36	102	89	122	Repeat	Note=TPR 2
Q8IWR0	36	102	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	102	155	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	102	155	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	102	155	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	102	155	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	124	156	Repeat	Note=TPR 3
Q8IWR0	102	155	124	156	Repeat	Note=TPR 3
Q8IWR0	182	195	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	182	195	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	182	195	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	182	195	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A

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
Q8IWR0	36	102	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	36	102	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	36	102	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	36	102	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	36	102	57	57	Natural variant	ID=VAR_052633;Note=H->R;Dbxref=dbSNP:rs16958654
Q8IWR0	36	102	57	57	Natural variant	ID=VAR_052633;Note=H->R;Dbxref=dbSNP:rs16958654
Q8IWR0	36	102	43	76	Repeat	Note=TPR 1
Q8IWR0	36	102	43	76	Repeat	Note=TPR 1
Q8IWR0	36	102	89	122	Repeat	Note=TPR 2
Q8IWR0	36	102	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	102	155	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	102	155	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	102	155	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	102	155	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	89	122	Repeat	Note=TPR 2
Q8IWR0	102	155	124	156	Repeat	Note=TPR 3
Q8IWR0	102	155	124	156	Repeat	Note=TPR 3
Q8IWR0	182	195	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	182	195	1	804	Alternative sequence	ID=VSP_014383;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11042152,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334
Q8IWR0	182	195	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A
Q8IWR0	182	195	1	971	Chain	ID=PRO_0000106321;Note=Zinc finger CCCH domain-containing protein 7A

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SNVs in the skipped exons for ZC3H7A

- 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.

ZC3H7A_COAD_exon_skip_141986_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
KIRC	TCGA-B0-5115-01	exon_skip_141960	11846525	11846688	11846601	11846602	Frame_Shift_Del	TC	-	p.884_884del
KIRC	TCGA-B0-5115-01	exon_skip_141960	11846525	11846688	11846601	11846602	Frame_Shift_Del	TC	-	p.EK883fs
STAD	TCGA-BR-7703-01	exon_skip_141960	11846525	11846688	11846657	11846657	Frame_Shift_Del	T	-	p.N865fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_141963	11855262	11855367	11855272	11855272	Frame_Shift_Del	A	-	p.L770fs
LIHC	TCGA-DD-A39Y-01	exon_skip_141963	11855262	11855367	11855319	11855319	Frame_Shift_Del	C	-	p.K755fs
KIRP	TCGA-5P-A9KA-01	exon_skip_141967	11856527	11856603	11856530	11856530	Frame_Shift_Del	C	-	p.Q693fs
LIHC	TCGA-DD-A1EG-01	exon_skip_141970	11857334	11857515	11857349	11857349	Frame_Shift_Del	T	-	p.M663fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_141971	11858909	11859009	11858969	11858969	Frame_Shift_Del	T	-	p.N587fs
LGG	TCGA-DU-7299-01	exon_skip_141979	11864639	11864843	11864798	11864799	Frame_Shift_Del	GA	-	p.317_317del
LGG	TCGA-DU-7299-01	exon_skip_141979	11864639	11864843	11864798	11864799	Frame_Shift_Del	GA	-	p.SP316fs
BLCA	TCGA-FD-A6TC-01	exon_skip_141986	11873022	11873219	11873143	11873143	Frame_Shift_Del	G	-	p.S62fs
UVM	TCGA-V4-A9F7-01	exon_skip_141960	11846525	11846688	11846640	11846640	Nonsense_Mutation	G	A	p.Q871*
UVM	TCGA-V4-A9F7-01	exon_skip_141960	11846525	11846688	11846640	11846640	Nonsense_Mutation	G	A	p.Q871X
READ	TCGA-F5-6814-01	exon_skip_141979	11864639	11864843	11864665	11864665	Nonsense_Mutation	G	T	p.S361X
COAD	TCGA-CA-6718-01	exon_skip_141986	11873022	11873219	11873072	11873072	Nonsense_Mutation	C	A	p.E86X
STAD	TCGA-VQ-A8P2-01	exon_skip_141960	11846525	11846688	11846689	11846689	Splice_Site	C	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CA-6718-01
	Cancer type: COAD
	ESID: exon_skip_141986
	Skipped exon start: 11873022
	Skipped exon end: 11873219
	Mutation start: 11873072
	Mutation end: 11873072
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E86X
exon_skip_141986_COAD_TCGA-CA-6718-01.png
exon_skip_149207_COAD_TCGA-CA-6718-01.png
exon_skip_286384_COAD_TCGA-CA-6718-01.png
exon_skip_30232_COAD_TCGA-CA-6718-01.png
exon_skip_30235_COAD_TCGA-CA-6718-01.png
exon_skip_317435_COAD_TCGA-CA-6718-01.png
exon_skip_317461_COAD_TCGA-CA-6718-01.png
exon_skip_387073_COAD_TCGA-CA-6718-01.png
exon_skip_44936_COAD_TCGA-CA-6718-01.png
exon_skip_501551_COAD_TCGA-CA-6718-01.png
exon_skip_86037_COAD_TCGA-CA-6718-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_141979
	Skipped exon start: 11864639
	Skipped exon end: 11864843
	Mutation start: 11864665
	Mutation end: 11864665
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.S361X
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.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
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	11846525	11846688	11846549	11846549	Missense_Mutation	G	A	p.T901I
VMCUB1_URINARY_TRACT	11855262	11855367	11855343	11855343	Missense_Mutation	C	A	p.M746I
VMCUB1_URINARY_TRACT	11855324	11855367	11855343	11855343	Missense_Mutation	C	A	p.M746I
NCIH630_LARGE_INTESTINE	11856527	11856603	11856555	11856555	Missense_Mutation	T	A	p.N684I
A388_SKIN	11857334	11857515	11857406	11857406	Missense_Mutation	A	C	p.L644V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11858909	11859009	11858922	11858922	Missense_Mutation	A	G	p.F603L
NCIH2286_LUNG	11858909	11859009	11858964	11858964	Missense_Mutation	C	T	p.D589N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11862887	11862951	11862934	11862934	Missense_Mutation	A	C	p.S376A
BICR18_UPPER_AERODIGESTIVE_TRACT	11862887	11862951	11862934	11862934	Missense_Mutation	A	C	p.S376A
S117_SOFT_TISSUE	11862887	11862951	11862934	11862934	Missense_Mutation	A	C	p.S376A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11862887	11862951	11862945	11862945	Missense_Mutation	G	C	p.S372C
BICR18_UPPER_AERODIGESTIVE_TRACT	11862887	11862951	11862945	11862945	Missense_Mutation	G	C	p.S372C
S117_SOFT_TISSUE	11862887	11862951	11862945	11862945	Missense_Mutation	G	C	p.S372C
CW2_LARGE_INTESTINE	11864639	11864843	11864731	11864731	Missense_Mutation	G	A	p.P339L
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11864639	11864843	11864776	11864776	Missense_Mutation	G	A	p.S324L
CFPAC1_PANCREAS	11864639	11864843	11864780	11864780	Missense_Mutation	C	T	p.A323T
KON_UPPER_AERODIGESTIVE_TRACT	11864639	11864843	11864789	11864789	Missense_Mutation	G	C	p.P320A
SNU407_LARGE_INTESTINE	11864639	11864843	11864837	11864837	Missense_Mutation	C	T	p.A304T
BECKER_CENTRAL_NERVOUS_SYSTEM	11870176	11870214	11870178	11870178	Missense_Mutation	T	C	p.K195E
EN_ENDOMETRIUM	11870607	11870765	11870681	11870681	Missense_Mutation	T	C	p.K131E
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11870607	11870765	11870725	11870725	Missense_Mutation	A	G	p.L116P
PL4_PANCREAS	11870607	11870765	11870755	11870755	Missense_Mutation	T	C	p.D106G
SNU1040_LARGE_INTESTINE	11873022	11873219	11873062	11873062	Missense_Mutation	T	C	p.E89G
NCIH508_LARGE_INTESTINE	11873022	11873219	11873201	11873201	Missense_Mutation	C	T	p.V43M
H3118_UPPER_AERODIGESTIVE_TRACT	11873022	11873219	11873210	11873210	Missense_Mutation	G	A	p.R40C
OVISE_OVARY	11862887	11862951	11862939	11862939	Nonsense_Mutation	G	C	p.S374*
OCUBM_BREAST	11864639	11864843	11864665	11864665	Nonsense_Mutation	G	C	p.S361*
SNU81_LARGE_INTESTINE	11873022	11873219	11873063	11873063	Nonsense_Mutation	C	A	p.E89*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11862887	11862951	11862887	11862887	Splice_Site	A	T	p.L391L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZC3H7A

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 ZC3H7A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H7A

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RelatedDrugs for ZC3H7A

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 ZC3H7A

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 ZC3H7A

Exon skipping events across known transcript of Ensembl for ZC3H7A from UCSC genome browser

Gene isoform structures and expression levels for ZC3H7A

Exon skipping events with PSIs in TCGA for ZC3H7A

Exon skipping events with PSIs in GTEx for ZC3H7A

Open reading frame (ORF) annotation in the exon skipping event for ZC3H7A

Infer the effects of exon skipping event on protein functional features for ZC3H7A

SNVs in the skipped exons for ZC3H7A

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZC3H7A

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H7A

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H7A

RelatedDrugs for ZC3H7A

RelatedDiseases for ZC3H7A