ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ZC3H18

Gene summary

Gene information	Gene symbol	ZC3H18
	Gene ID	124245
	Gene name	zinc finger CCCH-type containing 18
	Synonyms	NHN1
	Cytomap	16q24.2
	Type of gene	protein-coding
	Description	zinc finger CCCH domain-containing protein 18conserved nuclear protein NHN1nuclear protein NHN1
	Modification date	20180519
	UniProtAcc	Q86VM9
	Context	PubMed: ZC3H18 [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 ZC3H18 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 ZC3H18

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 ZC3H18

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_139331	16	88636885:88636974:88643517:88643783:88653007:88653092	88643517:88643783	ENSG00000158545.11	ENST00000569435.1
exon_skip_139332	16	88636885:88636974:88643517:88644134:88653007:88653092	88643517:88644134	ENSG00000158545.11	ENST00000452588.2
exon_skip_139333	16	88653024:88653092:88653949:88654021:88664585:88664734	88653949:88654021	ENSG00000158545.11	ENST00000452588.2
exon_skip_139334	16	88653024:88653092:88664585:88664734:88665027:88665120	88664585:88664734	ENSG00000158545.11	ENST00000569435.1,ENST00000301011.5,ENST00000567085.1
exon_skip_139336	16	88665027:88665120:88666198:88666356:88675341:88675459	88666198:88666356	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139337	16	88666243:88666356:88675341:88675459:88677675:88677944	88675341:88675459	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139341	16	88675341:88675459:88677675:88677944:88688604:88688796	88677675:88677944	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2,ENST00000564161.1
exon_skip_139344	16	88689626:88689752:88690365:88690470:88691009:88691153	88690365:88690470	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139346	16	88691095:88691153:88691609:88691675:88694029:88694190	88691609:88691675	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139357	16	88695165:88695262:88696892:88696989:88697508:88697664	88696892:88696989	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2,ENST00000566496.1,ENST00000565583.1,ENST00000566317.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ZC3H18

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_139331	16	88636885:88636974:88643517:88643783:88653007:88653092	88643517:88643783	ENSG00000158545.11	ENST00000569435.1
exon_skip_139332	16	88636885:88636974:88643517:88644134:88653007:88653092	88643517:88644134	ENSG00000158545.11	ENST00000452588.2
exon_skip_139333	16	88653024:88653092:88653949:88654021:88664585:88664734	88653949:88654021	ENSG00000158545.11	ENST00000452588.2
exon_skip_139334	16	88653024:88653092:88664585:88664734:88665027:88665120	88664585:88664734	ENSG00000158545.11	ENST00000301011.5,ENST00000569435.1,ENST00000567085.1
exon_skip_139336	16	88665027:88665120:88666198:88666356:88675341:88675459	88666198:88666356	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139337	16	88666243:88666356:88675341:88675459:88677675:88677944	88675341:88675459	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139341	16	88675341:88675459:88677675:88677944:88688604:88688796	88677675:88677944	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2,ENST00000564161.1
exon_skip_139344	16	88689626:88689752:88690365:88690470:88691009:88691153	88690365:88690470	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139346	16	88691095:88691153:88691609:88691675:88694029:88694190	88691609:88691675	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2
exon_skip_139357	16	88695165:88695262:88696892:88696989:88697508:88697664	88696892:88696989	ENSG00000158545.11	ENST00000301011.5,ENST00000452588.2,ENST00000566496.1,ENST00000565583.1,ENST00000566317.1

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 ZC3H18

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
ENST00000301011	88664585	88664734	Frame-shift
ENST00000301011	88666198	88666356	Frame-shift
ENST00000301011	88675341	88675459	Frame-shift
ENST00000301011	88677675	88677944	Frame-shift
ENST00000301011	88696892	88696989	Frame-shift
ENST00000301011	88690365	88690470	In-frame
ENST00000301011	88691609	88691675	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
ENST00000301011	88664585	88664734	Frame-shift
ENST00000301011	88666198	88666356	Frame-shift
ENST00000301011	88675341	88675459	Frame-shift
ENST00000301011	88677675	88677944	Frame-shift
ENST00000301011	88696892	88696989	Frame-shift
ENST00000301011	88690365	88690470	In-frame
ENST00000301011	88691609	88691675	In-frame

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Infer the effects of exon skipping event on protein functional features for ZC3H18

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
ENST00000301011	3746	953	88690365	88690470	1994	2098	598	632
ENST00000301011	3746	953	88691609	88691675	2243	2308	681	702

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
ENST00000301011	3746	953	88690365	88690470	1994	2098	598	632
ENST00000301011	3746	953	88691609	88691675	2243	2308	681	702

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
Q86VM9	598	632	1	953	Chain	ID=PRO_0000311242;Note=Zinc finger CCCH domain-containing protein 18
Q86VM9	598	632	532	746	Compositional bias	Note=Ser-rich
Q86VM9	598	632	622	622	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
Q86VM9	681	702	683	953	Alternative sequence	ID=VSP_029455;Note=In isoform 2. TLSGSGSGSGSSYSGSSSRSRSLSVSSVSSVSSATSSSSSAHSVDSEDMYADLASPVSSASSRSPAPAQTRKEKGKSKKEDGVKEEKRKRDSSTQPPKSAKPPAGGKSSQQPSTPQQAPPGQPQQGTFVAHKEIKLTLLNKAADKGSRKRYEPSDKDRQSPPPAKRPNTSPDRGSRDRKSGGRLGSPKPERQRGQNSKAPAAPADRKRQLSPQSKSSSKVTS
Q86VM9	681	702	1	953	Chain	ID=PRO_0000311242;Note=Zinc finger CCCH domain-containing protein 18
Q86VM9	681	702	532	746	Compositional bias	Note=Ser-rich

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
Q86VM9	598	632	1	953	Chain	ID=PRO_0000311242;Note=Zinc finger CCCH domain-containing protein 18
Q86VM9	598	632	532	746	Compositional bias	Note=Ser-rich
Q86VM9	598	632	622	622	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
Q86VM9	681	702	683	953	Alternative sequence	ID=VSP_029455;Note=In isoform 2. TLSGSGSGSGSSYSGSSSRSRSLSVSSVSSVSSATSSSSSAHSVDSEDMYADLASPVSSASSRSPAPAQTRKEKGKSKKEDGVKEEKRKRDSSTQPPKSAKPPAGGKSSQQPSTPQQAPPGQPQQGTFVAHKEIKLTLLNKAADKGSRKRYEPSDKDRQSPPPAKRPNTSPDRGSRDRKSGGRLGSPKPERQRGQNSKAPAAPADRKRQLSPQSKSSSKVTS
Q86VM9	681	702	1	953	Chain	ID=PRO_0000311242;Note=Zinc finger CCCH domain-containing protein 18
Q86VM9	681	702	532	746	Compositional bias	Note=Ser-rich

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SNVs in the skipped exons for ZC3H18

- 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.

ZC3H18_COAD_exon_skip_139341_psi_boxplot.png
boxplot

ZC3H18_PAAD_exon_skip_139341_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
SKCM	TCGA-EE-A29T-06	exon_skip_139332	88643518	88644134	88643999	88643999	Frame_Shift_Del	G	-	p.E157fs
STAD	TCGA-CG-4465-01	exon_skip_139336	88666199	88666356	88666204	88666204	Frame_Shift_Del	A	-	p.L312fs
STAD	TCGA-CG-4465-01	exon_skip_139336	88666199	88666356	88666204	88666204	Frame_Shift_Del	A	-	p.L312X
LIHC	TCGA-DD-A1EG-01	exon_skip_139337	88675342	88675459	88675388	88675388	Frame_Shift_Del	T	-	p.F379fs
ACC	TCGA-OR-A5L5-01	exon_skip_139341	88677676	88677944	88677692	88677693	Frame_Shift_Del	GA	-	p.R408fs
LGG	TCGA-S9-A6U5-01	exon_skip_139341	88677676	88677944	88677692	88677695	Frame_Shift_Del	GAGA	-	p.RE410fs
PAAD	TCGA-HZ-8003-01	exon_skip_139341	88677676	88677944	88677692	88677693	Frame_Shift_Del	GA	-	p.R408fs
UCEC	TCGA-AX-A063-01	exon_skip_139341	88677676	88677944	88677692	88677693	Frame_Shift_Del	GA	-	p.E411fs
THCA	TCGA-EL-A3CT-01	exon_skip_139344	88690366	88690470	88690386	88690386	Frame_Shift_Del	C	-	p.S605fs
BRCA	TCGA-B6-A0RI-01	exon_skip_139344	88690366	88690470	88690436	88690436	Frame_Shift_Del	A	-	p.K622fs
BLCA	TCGA-FT-A3EE-01	exon_skip_139336	88666199	88666356	88666210	88666211	Frame_Shift_Ins	-	GC	p.A315fs
BLCA	TCGA-FT-A3EE-01	exon_skip_139336	88666199	88666356	88666210	88666211	Frame_Shift_Ins	-	GC	p.K314fs
STAD	TCGA-D7-6815-01	exon_skip_139331	88643518	88643783	88643772	88643772	Nonsense_Mutation	C	T	p.Q81*
STAD	TCGA-D7-6815-01	exon_skip_139331	88643518	88643783	88643772	88643772	Nonsense_Mutation	C	T	p.Q81X
STAD	TCGA-D7-6815-01	exon_skip_139332	88643518	88644134	88643772	88643772	Nonsense_Mutation	C	T	p.Q81*
STAD	TCGA-D7-6815-01	exon_skip_139332	88643518	88644134	88643772	88643772	Nonsense_Mutation	C	T	p.Q81X
UCEC	TCGA-B5-A11G-01	exon_skip_139332	88643518	88644134	88643910	88643910	Nonsense_Mutation	G	T	p.E127*
BLCA	TCGA-UY-A9PB-01	exon_skip_139334	88664586	88664734	88664598	88664598	Nonsense_Mutation	G	A	p.W234*
COAD	TCGA-F4-6856-01	exon_skip_139336	88666199	88666356	88666204	88666204	Nonsense_Mutation	A	-	p.L312X
SKCM	TCGA-D3-A8GO-06	exon_skip_139336	88666199	88666356	88666313	88666313	Nonsense_Mutation	C	T	p.R349*
UCS	TCGA-ND-A4WC-01	exon_skip_139336	88666199	88666356	88666313	88666313	Nonsense_Mutation	C	T	p.R349*
UCS	TCGA-ND-A4WC-01	exon_skip_139336	88666199	88666356	88666313	88666313	Nonsense_Mutation	C	T	p.R349X
UCS	TCGA-N5-A4RD-01	exon_skip_139341	88677676	88677944	88677691	88677691	Nonsense_Mutation	C	T	p.R408*
UCS	TCGA-N5-A4RD-01	exon_skip_139341	88677676	88677944	88677691	88677691	Nonsense_Mutation	C	T	p.R408X
COAD	TCGA-CM-6674-01	exon_skip_139341	88677676	88677944	88677775	88677775	Nonsense_Mutation	C	T	p.R436X
PAAD	TCGA-IB-7651-01	exon_skip_139341	88677676	88677944	88677775	88677775	Nonsense_Mutation	C	T	p.R436*
PAAD	TCGA-IB-7651-01	exon_skip_139341	88677676	88677944	88677775	88677775	Nonsense_Mutation	C	T	p.R436X
UCEC	TCGA-D1-A167-01	exon_skip_139346	88691610	88691675	88691668	88691668	Nonsense_Mutation	C	T	p.R701*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CM-6674-01
	Cancer type: COAD
	ESID: exon_skip_139341
	Skipped exon start: 88677676
	Skipped exon end: 88677944
	Mutation start: 88677775
	Mutation end: 88677775
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R436X
exon_skip_139341_COAD_TCGA-CM-6674-01.png
exon_skip_142268_COAD_TCGA-CM-6674-01.png
exon_skip_275_COAD_TCGA-CM-6674-01.png
exon_skip_276_COAD_TCGA-CM-6674-01.png
exon_skip_3814_COAD_TCGA-CM-6674-01.png
exon_skip_3815_COAD_TCGA-CM-6674-01.png
exon_skip_454975_COAD_TCGA-CM-6674-01.png
exon_skip_489149_COAD_TCGA-CM-6674-01.png
exon_skip_86786_COAD_TCGA-CM-6674-01.png
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_139341
	Skipped exon start: 88677676
	Skipped exon end: 88677944
	Mutation start: 88677775
	Mutation end: 88677775
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R436X
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_139341
	Skipped exon start: 88677676
	Skipped exon end: 88677944
	Mutation start: 88677775
	Mutation end: 88677775
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R436*
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
exon_skip_115380_PAAD_TCGA-IB-7651-01.png
exon_skip_124564_PAAD_TCGA-IB-7651-01.png
exon_skip_135806_PAAD_TCGA-IB-7651-01.png
exon_skip_139341_PAAD_TCGA-IB-7651-01.png
exon_skip_153733_PAAD_TCGA-IB-7651-01.png
exon_skip_155805_PAAD_TCGA-IB-7651-01.png
exon_skip_18053_PAAD_TCGA-IB-7651-01.png
exon_skip_18056_PAAD_TCGA-IB-7651-01.png
exon_skip_23067_PAAD_TCGA-IB-7651-01.png
exon_skip_287059_PAAD_TCGA-IB-7651-01.png
exon_skip_294631_PAAD_TCGA-IB-7651-01.png
exon_skip_298512_PAAD_TCGA-IB-7651-01.png
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
exon_skip_307723_PAAD_TCGA-IB-7651-01.png
exon_skip_315960_PAAD_TCGA-IB-7651-01.png
exon_skip_324675_PAAD_TCGA-IB-7651-01.png
exon_skip_330351_PAAD_TCGA-IB-7651-01.png
exon_skip_334330_PAAD_TCGA-IB-7651-01.png
exon_skip_341784_PAAD_TCGA-IB-7651-01.png
exon_skip_343314_PAAD_TCGA-IB-7651-01.png
exon_skip_348329_PAAD_TCGA-IB-7651-01.png
exon_skip_354232_PAAD_TCGA-IB-7651-01.png
exon_skip_370626_PAAD_TCGA-IB-7651-01.png
exon_skip_377740_PAAD_TCGA-IB-7651-01.png
exon_skip_385032_PAAD_TCGA-IB-7651-01.png
exon_skip_390031_PAAD_TCGA-IB-7651-01.png
exon_skip_422548_PAAD_TCGA-IB-7651-01.png
exon_skip_424536_PAAD_TCGA-IB-7651-01.png
exon_skip_431753_PAAD_TCGA-IB-7651-01.png
exon_skip_432982_PAAD_TCGA-IB-7651-01.png
exon_skip_435489_PAAD_TCGA-IB-7651-01.png
exon_skip_435729_PAAD_TCGA-IB-7651-01.png
exon_skip_441705_PAAD_TCGA-IB-7651-01.png
exon_skip_448879_PAAD_TCGA-IB-7651-01.png
exon_skip_468347_PAAD_TCGA-IB-7651-01.png
exon_skip_494000_PAAD_TCGA-IB-7651-01.png
exon_skip_494029_PAAD_TCGA-IB-7651-01.png
exon_skip_499410_PAAD_TCGA-IB-7651-01.png
exon_skip_499695_PAAD_TCGA-IB-7651-01.png
exon_skip_499697_PAAD_TCGA-IB-7651-01.png
exon_skip_79905_PAAD_TCGA-IB-7651-01.png
exon_skip_80096_PAAD_TCGA-IB-7651-01.png
exon_skip_95924_PAAD_TCGA-IB-7651-01.png
	Sample: TCGA-HZ-8003-01
	Cancer type: PAAD
	ESID: exon_skip_139341
	Skipped exon start: 88677676
	Skipped exon end: 88677944
	Mutation start: 88677692
	Mutation end: 88677693
	Mutation type: Frame_Shift_Del
	Reference seq: GA
	Mutation seq: -
	AAchange: p.R408fs
exon_skip_139341_PAAD_TCGA-HZ-8003-01.png
exon_skip_308211_PAAD_TCGA-HZ-8003-01.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
NCIH1651_LUNG	88643518	88643783	88643654	88643654	Frame_Shift_Del	G	-	p.A41fs
NCIH1651_LUNG	88643518	88644134	88643654	88643654	Frame_Shift_Del	G	-	p.A41fs
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88643783	88643670	88643677	Frame_Shift_Del	GATCTGGA	-	p.DLE47fs
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88644134	88643670	88643677	Frame_Shift_Del	GATCTGGA	-	p.DLE47fs
KM12_LARGE_INTESTINE	88643518	88643783	88643698	88643698	Frame_Shift_Del	G	-	p.R56fs
KM12_LARGE_INTESTINE	88643518	88644134	88643698	88643698	Frame_Shift_Del	G	-	p.R56fs
SARC9371_BONE	88643518	88643783	88643770	88643779	Frame_Shift_Del	ACCAGGACTC	-	p.DQDS80fs
SARC9371_BONE	88643518	88644134	88643770	88643779	Frame_Shift_Del	ACCAGGACTC	-	p.DQDS80fs
RL952_ENDOMETRIUM	88666199	88666356	88666204	88666204	Frame_Shift_Del	A	-	p.L312fs
TGBC11TKB_STOMACH	88666199	88666356	88666204	88666204	Frame_Shift_Del	A	-	p.L312fs
CASKI_CERVIX	88675342	88675459	88675354	88675361	Frame_Shift_Del	CGCAGACC	-	p.ADP368fs
NCIH1651_LUNG	88643518	88643783	88643657	88643658	Frame_Shift_Ins	-	TT	p.V43fs
NCIH1651_LUNG	88643518	88644134	88643657	88643658	Frame_Shift_Ins	-	TT	p.V43fs
HEC108_ENDOMETRIUM	88666199	88666356	88666203	88666204	Frame_Shift_Ins	-	A	p.LK312fs
JHUEM2_ENDOMETRIUM	88666199	88666356	88666203	88666204	Frame_Shift_Ins	-	A	p.LK312fs
NCIH1651_LUNG	88643518	88643783	88643654	88643656	In_Frame_Del	GGG	-	p.G42del
NCIH1651_LUNG	88643518	88644134	88643654	88643656	In_Frame_Del	GGG	-	p.G42del
EW8_BONE	88677676	88677944	88677818	88677820	In_Frame_Del	AGG	-	p.E452del
HEYA8_OVARY	88643518	88643783	88643607	88643607	Missense_Mutation	G	T	p.D26Y
HEYA8_OVARY	88643518	88644134	88643607	88643607	Missense_Mutation	G	T	p.D26Y
HEY_OVARY	88643518	88643783	88643607	88643607	Missense_Mutation	G	T	p.D26Y
HEY_OVARY	88643518	88644134	88643607	88643607	Missense_Mutation	G	T	p.D26Y
M00921_SKIN	88643518	88643783	88643607	88643607	Missense_Mutation	G	A	p.D26N
M00921_SKIN	88643518	88644134	88643607	88643607	Missense_Mutation	G	A	p.D26N
SNUC4_LARGE_INTESTINE	88643518	88643783	88643611	88643611	Missense_Mutation	A	C	p.D27A
SNUC4_LARGE_INTESTINE	88643518	88644134	88643611	88643611	Missense_Mutation	A	C	p.D27A
TTC709_SOFT_TISSUE	88643518	88643783	88643656	88643656	Missense_Mutation	G	A	p.G42E
TTC709_SOFT_TISSUE	88643518	88644134	88643656	88643656	Missense_Mutation	G	A	p.G42E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88643783	88643707	88643707	Missense_Mutation	G	A	p.S59N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88644134	88643707	88643707	Missense_Mutation	G	A	p.S59N
IGR1_SKIN	88643518	88644134	88643851	88643851	Missense_Mutation	A	G	p.D107G
HEC1_ENDOMETRIUM	88643518	88644134	88643860	88643860	Missense_Mutation	G	A	p.S110N
SNU407_LARGE_INTESTINE	88643518	88644134	88643930	88643930	Missense_Mutation	G	T	p.E133D
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88644134	88643953	88643953	Missense_Mutation	C	T	p.A141V
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88644134	88643970	88643970	Missense_Mutation	G	T	p.A147S
SNU1041_UPPER_AERODIGESTIVE_TRACT	88643518	88644134	88644009	88644009	Missense_Mutation	G	A	p.E160K
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88643518	88644134	88644021	88644021	Missense_Mutation	A	G	p.R164G
HEC59_ENDOMETRIUM	88664586	88664734	88664642	88664642	Missense_Mutation	G	T	p.G249W
FADU_UPPER_AERODIGESTIVE_TRACT	88666199	88666356	88666218	88666218	Missense_Mutation	T	A	p.I317N
UMC11_LUNG	88666199	88666356	88666284	88666284	Missense_Mutation	G	A	p.R339Q
HCC2450_LUNG	88666199	88666356	88666286	88666286	Missense_Mutation	G	C	p.E340Q
SKRC20_KIDNEY	88666199	88666356	88666319	88666319	Missense_Mutation	T	C	p.W351R
MZ7MEL_SKIN	88675342	88675459	88675361	88675361	Missense_Mutation	C	T	p.P370S
HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88675342	88675459	88675381	88675381	Missense_Mutation	T	G	p.I376M
NCIH2882_LUNG	88675342	88675459	88675393	88675393	Missense_Mutation	G	T	p.W380C
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88675342	88675459	88675410	88675410	Missense_Mutation	A	G	p.E386G
MALME3M_SKIN	88677676	88677944	88677680	88677680	Missense_Mutation	G	A	p.R404K
DV90_LUNG	88677676	88677944	88677681	88677681	Missense_Mutation	G	T	p.R404S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88677676	88677944	88677736	88677736	Missense_Mutation	C	T	p.R423W
HEC6_ENDOMETRIUM	88677676	88677944	88677741	88677741	Missense_Mutation	C	G	p.D424E
HEC151_ENDOMETRIUM	88677676	88677944	88677781	88677781	Missense_Mutation	C	T	p.R438W
HCT116_LARGE_INTESTINE	88677676	88677944	88677788	88677788	Missense_Mutation	G	A	p.R440H
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88677676	88677944	88677788	88677788	Missense_Mutation	G	A	p.R440H
HSC1_SKIN	88677676	88677944	88677872	88677872	Missense_Mutation	G	A	p.R468H
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88677676	88677944	88677877	88677877	Missense_Mutation	C	T	p.R470C
PATU8902_PANCREAS	88677676	88677944	88677883	88677883	Missense_Mutation	C	T	p.R472W
HEC108_ENDOMETRIUM	88677676	88677944	88677910	88677910	Missense_Mutation	G	T	p.G481W
SW684_SOFT_TISSUE	88691610	88691675	88691666	88691666	Missense_Mutation	C	T	p.S700F
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88696893	88696989	88696905	88696905	Missense_Mutation	G	A	p.R860Q
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88666199	88666356	88666298	88666298	Nonsense_Mutation	G	T	p.E344*
NCIH1155_LUNG	88675342	88675459	88675457	88675457	Nonsense_Mutation	C	T	p.R402*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	88677676	88677944	88677691	88677691	Nonsense_Mutation	C	T	p.R408*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZC3H18

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 ZC3H18

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H18

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RelatedDrugs for ZC3H18

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 ZC3H18

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 ZC3H18

Exon skipping events across known transcript of Ensembl for ZC3H18 from UCSC genome browser

Gene isoform structures and expression levels for ZC3H18

Exon skipping events with PSIs in TCGA for ZC3H18

Exon skipping events with PSIs in GTEx for ZC3H18

Open reading frame (ORF) annotation in the exon skipping event for ZC3H18

Infer the effects of exon skipping event on protein functional features for ZC3H18

SNVs in the skipped exons for ZC3H18

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZC3H18

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H18

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZC3H18

RelatedDrugs for ZC3H18

RelatedDiseases for ZC3H18