ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NFATC3

Gene summary

Gene information	Gene symbol	NFATC3
	Gene ID	4775
	Gene name	nuclear factor of activated T cells 3
	Synonyms	NFAT4\|NFATX
	Cytomap	16q22.1
	Type of gene	protein-coding
	Description	nuclear factor of activated T-cells, cytoplasmic 3NF-ATc3T cell transcription factor NFAT4nuclear factor of activated T-cells c3 isoform IE-Xanuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
	Modification date	20180527
	UniProtAcc	Q12968
	Context	PubMed: NFATC3 [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
NFATC3	GO:0045944	positive regulation of transcription by RNA polymerase II	18815128
NFATC3	GO:1905064	negative regulation of vascular smooth muscle cell differentiation	23853098

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Exon skipping events across known transcript of Ensembl for NFATC3 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 NFATC3

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 NFATC3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_137905	16	68119560:68119687:68155889:68157024:68160350:68160513	68155889:68157024	ENSG00000072736.14	ENST00000379165.4,ENST00000575270.1,ENST00000346183.3,ENST00000349223.5,ENST00000329524.4
exon_skip_137907	16	68119560:68119687:68160350:68160513:68191771:68191971	68160350:68160513	ENSG00000072736.14	ENST00000562171.1
exon_skip_137909	16	68156932:68157024:68160350:68160513:68191771:68191971	68160350:68160513	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000379165.4,ENST00000553077.1,ENST00000566301.1,ENST00000563319.1,ENST00000569766.1,ENST00000562926.1,ENST00000570212.1,ENST00000567152.1,ENST00000575270.1,ENST00000563288.1,ENST00000346183.3,ENST00000349223.5,ENS
exon_skip_137911	16	68191861:68191971:68200745:68200918:68208276:68208417	68200745:68200918	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000379165.4,ENST00000553077.1,ENST00000539828.2,ENST00000566301.1,ENST00000563319.1,ENST00000569766.1,ENST00000562926.1,ENST00000570212.1,ENST00000567152.1,ENST00000575270.1,ENST00000563288.1,ENST00000346183.3,ENS
exon_skip_137914	16	68208276:68208417:68215377:68215433:68217142:68217269	68215377:68215433	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000379165.4,ENST00000553077.1,ENST00000539828.2,ENST00000566301.1,ENST00000563319.1,ENST00000569766.1,ENST00000562926.1,ENST00000570212.1,ENST00000567152.1,ENST00000575270.1,ENST00000563288.1,ENST00000346183.3,ENS
exon_skip_137917	16	68215377:68215433:68217142:68217269:68224670:68225678	68217142:68217269	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000379165.4,ENST00000553077.1,ENST00000539828.2,ENST00000566301.1,ENST00000563319.1,ENST00000569766.1,ENST00000562926.1,ENST00000570212.1,ENST00000567152.1,ENST00000575270.1,ENST00000563288.1,ENST00000346183.3,ENS
exon_skip_137918	16	68217142:68217269:68224670:68225678:68248231:68248335	68224670:68225678	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000566301.1,ENST00000563319.1,ENST00000562926.1,ENST00000563288.1,ENST00000329524.4
exon_skip_137919	16	68217142:68217269:68224670:68225678:68260252:68260374	68224670:68225678	ENSG00000072736.14	ENST00000569766.1,ENST00000570212.1,ENST00000567152.1,ENST00000346183.3
exon_skip_137925	16	68224670:68225678:68248231:68248335:68260252:68260374	68248231:68248335	ENSG00000072736.14	ENST00000563796.1,ENST00000535127.2,ENST00000566301.1,ENST00000563319.1,ENST00000562926.1,ENST00000563288.1,ENST00000329524.4
exon_skip_137926	16	68224670:68225678:68255098:68255187:68260252:68260374	68255098:68255187	ENSG00000072736.14	ENST00000349223.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NFATC3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_137905	16	68119560:68119687:68155889:68157024:68160350:68160513	68155889:68157024	ENSG00000072736.14	ENST00000575270.1,ENST00000349223.5,ENST00000379165.4,ENST00000346183.3,ENST00000329524.4
exon_skip_137907	16	68119560:68119687:68160350:68160513:68191771:68191971	68160350:68160513	ENSG00000072736.14	ENST00000562171.1
exon_skip_137909	16	68156932:68157024:68160350:68160513:68191771:68191971	68160350:68160513	ENSG00000072736.14	ENST00000553077.1,ENST00000569766.1,ENST00000563319.1,ENST00000549350.1,ENST00000566301.1,ENST00000575270.1,ENST00000349223.5,ENST00000379165.4,ENST00000346183.3,ENST00000329524.4,ENST00000570212.1,ENST00000562926.1,ENST00000567152.1,ENST00000563796.1,ENS
exon_skip_137911	16	68191861:68191971:68200745:68200918:68208276:68208417	68200745:68200918	ENSG00000072736.14	ENST00000553077.1,ENST00000569766.1,ENST00000563319.1,ENST00000549350.1,ENST00000566301.1,ENST00000575270.1,ENST00000539828.2,ENST00000349223.5,ENST00000379165.4,ENST00000346183.3,ENST00000329524.4,ENST00000570212.1,ENST00000562926.1,ENST00000567152.1,ENS
exon_skip_137914	16	68208276:68208417:68215377:68215433:68217142:68217269	68215377:68215433	ENSG00000072736.14	ENST00000553077.1,ENST00000569766.1,ENST00000563319.1,ENST00000549350.1,ENST00000566301.1,ENST00000575270.1,ENST00000539828.2,ENST00000349223.5,ENST00000379165.4,ENST00000346183.3,ENST00000329524.4,ENST00000570212.1,ENST00000562926.1,ENST00000567152.1,ENS
exon_skip_137917	16	68215377:68215433:68217142:68217269:68224670:68225678	68217142:68217269	ENSG00000072736.14	ENST00000553077.1,ENST00000569766.1,ENST00000563319.1,ENST00000549350.1,ENST00000566301.1,ENST00000575270.1,ENST00000539828.2,ENST00000349223.5,ENST00000379165.4,ENST00000346183.3,ENST00000329524.4,ENST00000570212.1,ENST00000562926.1,ENST00000567152.1,ENS
exon_skip_137918	16	68217142:68217269:68224670:68225678:68248231:68248335	68224670:68225678	ENSG00000072736.14	ENST00000563319.1,ENST00000566301.1,ENST00000329524.4,ENST00000562926.1,ENST00000563796.1,ENST00000563288.1,ENST00000535127.2
exon_skip_137919	16	68217142:68217269:68224670:68225678:68260252:68260374	68224670:68225678	ENSG00000072736.14	ENST00000569766.1,ENST00000346183.3,ENST00000570212.1,ENST00000567152.1
exon_skip_137925	16	68224670:68225678:68248231:68248335:68260252:68260374	68248231:68248335	ENSG00000072736.14	ENST00000563319.1,ENST00000566301.1,ENST00000329524.4,ENST00000562926.1,ENST00000563796.1,ENST00000563288.1,ENST00000535127.2
exon_skip_137926	16	68224670:68225678:68255098:68255187:68260252:68260374	68255098:68255187	ENSG00000072736.14	ENST00000349223.5

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 NFATC3

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
ENST00000346183	68155889	68157024	Frame-shift
ENST00000346183	68160350	68160513	Frame-shift
ENST00000346183	68200745	68200918	Frame-shift
ENST00000346183	68215377	68215433	Frame-shift
ENST00000346183	68217142	68217269	Frame-shift
ENST00000346183	68224670	68225678	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
ENST00000346183	68155889	68157024	Frame-shift
ENST00000346183	68160350	68160513	Frame-shift
ENST00000346183	68200745	68200918	Frame-shift
ENST00000346183	68215377	68215433	Frame-shift
ENST00000346183	68217142	68217269	Frame-shift
ENST00000346183	68224670	68225678	In-frame

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Infer the effects of exon skipping event on protein functional features for NFATC3

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
ENST00000346183	6057	1075	68224670	68225678	2123	3130	699	1035

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
ENST00000346183	6057	1075	68224670	68225678	2123	3130	699	1035

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
Q12968	699	1035	700	1075	Alternative sequence	ID=VSP_005598;Note=In isoform 5. VLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSG
Q12968	699	1035	717	1075	Alternative sequence	ID=VSP_005599;Note=In isoform 6. SLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSP
Q12968	699	1035	2	1075	Chain	ID=PRO_0000205180;Note=Nuclear factor of activated T-cells%2C cytoplasmic 3
Q12968	699	1035	1032	1041	Motif	Note=Nuclear export signal
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q12968	699	1035	700	1075	Alternative sequence	ID=VSP_005598;Note=In isoform 5. VLMKQEHREEIDLSSVPSLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSG
Q12968	699	1035	717	1075	Alternative sequence	ID=VSP_005599;Note=In isoform 6. SLPVPHPAQTQRPSSDSGCSHDSVLSGQRSLICSIPQTYASMVTSSHLPQLQCRDESVSKEQHMIPSPIVHQPFQVTPTPPVGSSYQPMQTNVVYNGPTCLPINAASSQEFDSVLFQQDATLSGLVNLGCQPLSSIPFHSSNSGSTGHLLAHTPHSVHTLPHLQSMGYHCSNTGQRSLSSPVADQITGQPSSQLQPITYGPSHSGSATTASPAASHPLASSP
Q12968	699	1035	2	1075	Chain	ID=PRO_0000205180;Note=Nuclear factor of activated T-cells%2C cytoplasmic 3
Q12968	699	1035	1032	1041	Motif	Note=Nuclear export signal
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	702	702	Sequence conflict	Note=M->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	831	831	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	899	899	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	923	923	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	935	935	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	947	947	Sequence conflict	Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12968	699	1035	960	960	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for NFATC3

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

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_137905	68155890	68157024	68156004	68156004	Frame_Shift_Del	T	-	p.V73fs
LIHC	TCGA-DD-A39Y-01	exon_skip_137905	68155890	68157024	68156036	68156036	Frame_Shift_Del	A	-	p.K84fs
LIHC	TCGA-DD-A1EG-01	exon_skip_137905	68155890	68157024	68156204	68156204	Frame_Shift_Del	T	-	p.F140fs
LIHC	TCGA-DD-A3A0-01	exon_skip_137905	68155890	68157024	68156204	68156204	Frame_Shift_Del	T	-	p.F140fs
KIRP	TCGA-2Z-A9J5-01	exon_skip_137905	68155890	68157024	68156669	68156669	Frame_Shift_Del	C	-	p.V294fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_137905	68155890	68157024	68156685	68156685	Frame_Shift_Del	C	-	p.S300fs
KIRC	TCGA-B0-5703-01	exon_skip_137907 exon_skip_137909	68160351	68160513	68160480	68160480	Frame_Shift_Del	A	-	p.V456fs
LIHC	TCGA-DD-A3A0-01	exon_skip_137907 exon_skip_137909	68160351	68160513	68160493	68160493	Frame_Shift_Del	G	-	p.G462fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_137907 exon_skip_137909	68160351	68160513	68160493	68160493	Frame_Shift_Del	G	-	p.G462fs
KIRP	TCGA-BQ-5892-01	exon_skip_137911	68200746	68200918	68200904	68200904	Frame_Shift_Del	T	-	p.I587fs
LIHC	TCGA-DD-A3A0-01	exon_skip_137914	68215378	68215433	68215420	68215420	Frame_Shift_Del	A	-	p.E653fs
LIHC	TCGA-DD-A3A0-01	exon_skip_137917	68217143	68217269	68217175	68217175	Frame_Shift_Del	T	-	p.H668fs
LIHC	TCGA-DD-A39Y-01	exon_skip_137918 exon_skip_137919	68224671	68225678	68225137	68225137	Frame_Shift_Del	T	-	p.H855fs
LIHC	TCGA-DD-A3A0-01	exon_skip_137926	68255099	68255187	68255125	68255125	Frame_Shift_Del	T	-	p.1045fs
LIHC	TCGA-BC-A112-01	exon_skip_137905	68155890	68157024	68156442	68156443	Frame_Shift_Ins	-	C	p.S219fs
BLCA	TCGA-DK-A6AW-01	exon_skip_137911	68200746	68200918	68200795	68200795	Nonsense_Mutation	C	T	p.R551*
BLCA	TCGA-GU-A767-01	exon_skip_137914	68215378	68215433	68215389	68215389	Nonsense_Mutation	C	T	p.Q643*
CESC	TCGA-Q1-A73O-01	exon_skip_137918 exon_skip_137919	68224671	68225678	68224713	68224713	Nonsense_Mutation	C	G	p.S714*
SKCM	TCGA-EE-A3JE-06	exon_skip_137918 exon_skip_137919	68224671	68225678	68225519	68225519	Nonsense_Mutation	C	T	p.Q983*
SKCM	TCGA-EE-A3JE-06	exon_skip_137918 exon_skip_137919	68224671	68225678	68225519	68225519	Nonsense_Mutation	C	T	p.Q983X
BLCA	TCGA-FD-A3SR-01	exon_skip_137926	68255099	68255187	68255131	68255131	Nonsense_Mutation	C	T	p.Q1047*
UCEC	TCGA-B5-A0JR-01	exon_skip_137911	68200746	68200918	68200744	68200744	Splice_Site	A	G	e5-2
UCEC	TCGA-B5-A0JR-01	exon_skip_137911	68200746	68200918	68200744	68200744	Splice_Site	A	G	p.S534_splice

- 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
HCC1171_LUNG	68155890	68157024	68155996	68155997	Frame_Shift_Del	CT	-	p.S72fs
J82_URINARY_TRACT	68155890	68157024	68156139	68156142	Frame_Shift_Del	CTAA	-	p.PN118fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68155890	68157024	68156435	68156435	Frame_Shift_Del	G	-	p.G218fs
HEC59_ENDOMETRIUM	68224671	68225678	68225521	68225521	Frame_Shift_Del	G	-	p.Q983fs
BICR18_UPPER_AERODIGESTIVE_TRACT	68155890	68157024	68155984	68155985	Frame_Shift_Ins	-	C	p.L67fs
SNU1040_LARGE_INTESTINE	68155890	68157024	68155911	68155911	Missense_Mutation	C	T	p.A42V
SKOV3_OVARY	68155890	68157024	68155946	68155946	Missense_Mutation	T	C	p.S54P
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68155890	68157024	68155949	68155949	Missense_Mutation	A	G	p.T55A
SNU283_LARGE_INTESTINE	68155890	68157024	68156132	68156132	Missense_Mutation	A	C	p.I116L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68155890	68157024	68156205	68156205	Missense_Mutation	T	A	p.F140Y
SW1783_CENTRAL_NERVOUS_SYSTEM	68155890	68157024	68156259	68156259	Missense_Mutation	G	A	p.R158Q
EN_ENDOMETRIUM	68155890	68157024	68156289	68156289	Missense_Mutation	G	A	p.S168N
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68155890	68157024	68156316	68156316	Missense_Mutation	C	T	p.S177F
HEC251_ENDOMETRIUM	68155890	68157024	68156418	68156418	Missense_Mutation	C	A	p.S211Y
HEC59_ENDOMETRIUM	68155890	68157024	68156450	68156450	Missense_Mutation	G	A	p.E222K
HO1U1_UPPER_AERODIGESTIVE_TRACT	68155890	68157024	68156475	68156475	Missense_Mutation	G	A	p.G230E
NCIH322_LUNG	68155890	68157024	68156505	68156505	Missense_Mutation	C	T	p.S240F
LS180_LARGE_INTESTINE	68155890	68157024	68156524	68156524	Missense_Mutation	A	T	p.R246S
WM1799_SKIN	68155890	68157024	68156580	68156580	Missense_Mutation	C	T	p.S265L
NCIH2087_LUNG	68155890	68157024	68156738	68156738	Missense_Mutation	G	A	p.G318R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68155890	68157024	68156949	68156949	Missense_Mutation	G	C	p.C388S
BICR18_UPPER_AERODIGESTIVE_TRACT	68155890	68157024	68156949	68156949	Missense_Mutation	G	C	p.C388S
SNU1040_LARGE_INTESTINE	68160351	68160513	68160358	68160358	Missense_Mutation	T	C	p.S416P
BICR18_UPPER_AERODIGESTIVE_TRACT	68160351	68160513	68160388	68160388	Missense_Mutation	G	A	p.A426T
ECC12_STOMACH	68160351	68160513	68160391	68160391	Missense_Mutation	C	G	p.H427D
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68200746	68200918	68200754	68200754	Missense_Mutation	G	T	p.C537F
LU139_LUNG	68215378	68215433	68215387	68215387	Missense_Mutation	C	G	p.P642R
LC1F_LUNG	68217143	68217269	68217159	68217159	Missense_Mutation	A	G	p.E663G
LC1SQSF_LUNG	68217143	68217269	68217159	68217159	Missense_Mutation	A	G	p.E663G
LC1SQ_LUNG	68217143	68217269	68217159	68217159	Missense_Mutation	A	G	p.E663G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68217143	68217269	68217191	68217191	Missense_Mutation	G	T	p.A674S
BICR18_UPPER_AERODIGESTIVE_TRACT	68217143	68217269	68217191	68217191	Missense_Mutation	G	T	p.A674S
CORL105_LUNG	68217143	68217269	68217220	68217220	Missense_Mutation	C	G	p.C683W
AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68224671	68225678	68224731	68224731	Missense_Mutation	T	C	p.V720A
NCIH1963_LUNG	68224671	68225678	68224761	68224761	Missense_Mutation	C	T	p.S730F
KYSE410_OESOPHAGUS	68224671	68225678	68224781	68224781	Missense_Mutation	C	T	p.H737Y
FU97_STOMACH	68224671	68225678	68224787	68224787	Missense_Mutation	A	C	p.S739R
NCIH1770_LUNG	68224671	68225678	68224923	68224923	Missense_Mutation	C	T	p.P784L
NCIH2106_LUNG	68224671	68225678	68224923	68224923	Missense_Mutation	C	T	p.P784L
SW156_KIDNEY	68224671	68225678	68225043	68225043	Missense_Mutation	G	A	p.S824N
MALME3M_SKIN	68224671	68225678	68225262	68225262	Missense_Mutation	C	T	p.P897L
NCIN87_STOMACH	68224671	68225678	68225289	68225289	Missense_Mutation	C	T	p.P906L
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68224671	68225678	68225325	68225325	Missense_Mutation	C	T	p.S918L
TTC709_SOFT_TISSUE	68224671	68225678	68225399	68225399	Missense_Mutation	C	G	p.P943A
STM9101_SOFT_TISSUE	68224671	68225678	68225399	68225399	Missense_Mutation	C	G	p.P943A
HEC6_ENDOMETRIUM	68224671	68225678	68225418	68225418	Missense_Mutation	C	A	p.P949H
SIMA_AUTONOMIC_GANGLIA	68224671	68225678	68225496	68225496	Missense_Mutation	C	T	p.S975L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68224671	68225678	68225570	68225570	Missense_Mutation	C	T	p.P1000S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68224671	68225678	68225571	68225571	Missense_Mutation	C	T	p.P1000L
SNU81_LARGE_INTESTINE	68200746	68200918	68200795	68200795	Nonsense_Mutation	C	T	p.R551*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68200746	68200918	68200837	68200837	Nonsense_Mutation	C	T	p.R565*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	68200746	68200918	68200837	68200837	Nonsense_Mutation	C	T	p.R565*
A172_CENTRAL_NERVOUS_SYSTEM	68217143	68217269	68217236	68217236	Nonsense_Mutation	A	T	p.K689*
SNUC2B_LARGE_INTESTINE	68224671	68225678	68224685	68224685	Nonsense_Mutation	G	T	p.E705*
NCIH1770_LUNG	68224671	68225678	68225301	68225301	Nonsense_Mutation	T	A	p.L910*
NCIH2106_LUNG	68224671	68225678	68225301	68225301	Nonsense_Mutation	T	A	p.L910*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFATC3

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 NFATC3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFATC3

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RelatedDrugs for NFATC3

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 NFATC3

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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