ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NLRP1

Gene summary

Gene information	Gene symbol	NLRP1
	Gene ID	22861
	Gene name	NLR family pyrin domain containing 1
	Synonyms	AIADK\|CARD7\|CIDED\|CLR17.1\|DEFCAP\|DEFCAP-L/S\|MSPC\|NAC\|NALP1\|PP1044\|SLEV1\|VAMAS1
	Cytomap	17p13.2
	Type of gene	protein-coding
	Description	NACHT, LRR and PYD domains-containing protein 1NACHT, LRR and PYD containing protein 1NACHT, leucine rich repeat and PYD (pyrin domain) containing 1NACHT, leucine rich repeat and PYD containing 1caspase recruitment domain protein 7caspase recruitment
	Modification date	20180523
	UniProtAcc	Q9C000
	Context	PubMed: NLRP1 [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
NLRP1	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	15212762
NLRP1	GO:0051402	neuron apoptotic process	15212762

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Exon skipping events across known transcript of Ensembl for NLRP1 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 NLRP1

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 NLRP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286022	17	5402758:5403270:5405056:5405192:5421065:5421207	5405056:5405192	ENSG00000091592.11	ENST00000544378.2
exon_skip_286032	17	5405056:5405192:5421065:5421207:5424200:5424332	5421065:5421207	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5
exon_skip_286045	17	5421065:5421207:5424200:5424332:5424843:5425106	5424200:5424332	ENSG00000091592.11	ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENSG00000091592.11	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4
exon_skip_286051	17	5436141:5436304:5436611:5436704:5437216:5437308	5436611:5436704	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5
exon_skip_286054	17	5436141:5436304:5436623:5436704:5437216:5437308	5436623:5436704	ENSG00000091592.11	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000572272.1,ENST00000354411.3,ENST00000269280.4
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENSG00000091592.11	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENSG00000091592.11	ENST00000577119.1,ENST00000354411.3
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENSG00000091592.11	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4
exon_skip_286066	17	5437216:5437308:5442734:5442905:5445176:5445347	5442734:5442905	ENSG00000091592.11	ENST00000577119.1,ENST00000354411.3
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENSG00000091592.11	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NLRP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286022	17	5402758:5403270:5405056:5405192:5421065:5421207	5405056:5405192	ENSG00000091592.11	ENST00000544378.2
exon_skip_286032	17	5405056:5405192:5421065:5421207:5424200:5424332	5421065:5421207	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5
exon_skip_286045	17	5421065:5421207:5424200:5424332:5424843:5425106	5424200:5424332	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5,ENST00000572272.1,ENST00000354411.3
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENSG00000091592.11	ENST00000345221.3,ENST00000571451.2,ENST00000269280.4,ENST00000577119.1
exon_skip_286051	17	5436141:5436304:5436611:5436704:5437216:5437308	5436611:5436704	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5
exon_skip_286054	17	5436141:5436304:5436623:5436704:5437216:5437308	5436623:5436704	ENSG00000091592.11	ENST00000345221.3,ENST00000571451.2,ENST00000269280.4,ENST00000572272.1,ENST00000354411.3,ENST00000577119.1,ENST00000571307.1
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5,ENST00000345221.3,ENST00000571451.2,ENST00000269280.4,ENST00000572272.1,ENST00000571307.1
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENSG00000091592.11	ENST00000354411.3,ENST00000577119.1
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5,ENST00000345221.3,ENST00000571451.2,ENST00000269280.4,ENST00000572272.1,ENST00000571307.1
exon_skip_286066	17	5437216:5437308:5442734:5442905:5445176:5445347	5442734:5442905	ENSG00000091592.11	ENST00000354411.3,ENST00000577119.1
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENSG00000091592.11	ENST00000544378.2,ENST00000262467.5,ENST00000345221.3,ENST00000571451.2,ENST00000269280.4,ENST00000572272.1,ENST00000354411.3,ENST00000577119.1,ENST00000571307.1

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 NLRP1

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
ENST00000572272	5437216	5437308	Frame-shift
ENST00000572272	5461658	5463363	Frame-shift
ENST00000572272	5424200	5424332	In-frame
ENST00000572272	5436623	5436704	In-frame
ENST00000572272	5440170	5440260	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
ENST00000572272	5437216	5437308	Frame-shift
ENST00000572272	5461658	5463363	Frame-shift
ENST00000572272	5424200	5424332	In-frame
ENST00000572272	5436623	5436704	In-frame
ENST00000572272	5440170	5440260	In-frame

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Infer the effects of exon skipping event on protein functional features for NLRP1

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
ENST00000572272	4439	1473	5440170	5440260	2871	2960	957	986
ENST00000572272	4439	1473	5436623	5436704	3053	3133	1017	1044
ENST00000572272	4439	1473	5424200	5424332	3784	3915	1261	1305

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
ENST00000572272	4439	1473	5440170	5440260	2871	2960	957	986
ENST00000572272	4439	1473	5436623	5436704	3053	3133	1017	1044
ENST00000572272	4439	1473	5424200	5424332	3784	3915	1261	1305

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 NLRP1

- 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
KIRP	TCGA-A4-A7UZ-01	exon_skip_286048	5424844	5425106	5424855	5424865	Frame_Shift_Del	AGCAGTCACTT	-	p.1259_1262del
LIHC	TCGA-DD-A3A0-01	exon_skip_286068	5461659	5463363	5461679	5461679	Frame_Shift_Del	C	-	p.W779fs
LIHC	TCGA-DD-A1EG-01	exon_skip_286068	5461659	5463363	5461998	5461998	Frame_Shift_Del	A	-	p.F673fs
STAD	TCGA-CG-4306-01	exon_skip_286068	5461659	5463363	5462052	5462052	Frame_Shift_Del	T	-	p.K655fs
COAD	TCGA-CK-5916-01	exon_skip_286068	5461659	5463363	5462268	5462268	Frame_Shift_Del	T	-	p.K583fs
HNSC	TCGA-CV-A6K1-01	exon_skip_286068	5461659	5463363	5462268	5462268	Frame_Shift_Del	T	-	p.K583fs
STAD	TCGA-BR-4362-01	exon_skip_286068	5461659	5463363	5462268	5462268	Frame_Shift_Del	T	-	p.K583fs
LIHC	TCGA-DD-A1EG-01	exon_skip_286068	5461659	5463363	5462368	5462368	Frame_Shift_Del	G	-	p.L550fs
LIHC	TCGA-DD-A39Y-01	exon_skip_286068	5461659	5463363	5462399	5462399	Frame_Shift_Del	T	-	p.K539fs
LIHC	TCGA-DD-A3A1-01	exon_skip_286068	5461659	5463363	5462760	5462760	Frame_Shift_Del	A	-	p.L419fs
LIHC	TCGA-DD-A39Y-01	exon_skip_286068	5461659	5463363	5462960	5462960	Frame_Shift_Del	C	-	p.G352fs
LUAD	TCGA-78-7146-01	exon_skip_286068	5461659	5463363	5463043	5463043	Frame_Shift_Del	G	-	p.Q325fs
UCEC	TCGA-D1-A101-01	exon_skip_286068	5461659	5463363	5463204	5463204	Frame_Shift_Del	T	-	p.N271fs
PAAD	TCGA-XN-A8T3-01	exon_skip_286068	5461659	5463363	5463340	5463341	Frame_Shift_Del	TC	-	p.EK225fs
LIHC	TCGA-BC-A112-01	exon_skip_286068	5461659	5463363	5462267	5462268	Frame_Shift_Ins	-	T	p.K583fs
LIHC	TCGA-BC-A112-01	exon_skip_286068	5461659	5463363	5462267	5462268	Frame_Shift_Ins	-	T	p.N583fs
PRAD	TCGA-CH-5751-01	exon_skip_286068	5461659	5463363	5462267	5462268	Frame_Shift_Ins	-	T	p.N583fs
LIHC	TCGA-MI-A75H-01	exon_skip_286068	5461659	5463363	5462324	5462325	Frame_Shift_Ins	-	A	p.L564fs
LIHC	TCGA-MI-A75H-01	exon_skip_286068	5461659	5463363	5462324	5462325	Frame_Shift_Ins	-	A	p.W564fs
KIRC	TCGA-CW-5591-01	exon_skip_286068	5461659	5463363	5463037	5463038	Frame_Shift_Ins	-	C	p.P327fs
KIRC	TCGA-CW-5591-01	exon_skip_286068	5461659	5463363	5463038	5463039	Frame_Shift_Ins	-	C	p.E326fs
COAD	TCGA-AA-3510-01	exon_skip_286032	5421066	5421207	5421177	5421177	Nonsense_Mutation	C	A	p.E1242X
UCEC	TCGA-D1-A17Q-01	exon_skip_286032	5421066	5421207	5421189	5421189	Nonsense_Mutation	G	A	p.R1312*
UCEC	TCGA-BG-A0LX-01	exon_skip_286048	5424844	5425106	5425026	5425026	Nonsense_Mutation	C	A	p.E1201*
COAD	TCGA-AD-6889-01	exon_skip_286066	5442735	5442905	5442787	5442787	Nonsense_Mutation	G	A	p.R940X
SKCM	TCGA-ER-A19H-06	exon_skip_286068	5461659	5463363	5462137	5462137	Nonsense_Mutation	G	A	p.Q627*
SKCM	TCGA-ER-A19H-06	exon_skip_286068	5461659	5463363	5462137	5462137	Nonsense_Mutation	G	A	p.Q627X
HNSC	TCGA-DQ-5624-01	exon_skip_286068	5461659	5463363	5462454	5462454	Nonsense_Mutation	C	T	p.W521*
KIRC	TCGA-B0-4810-01	exon_skip_286068	5461659	5463363	5462474	5462474	Nonsense_Mutation	C	T	p.W514X
SKCM	TCGA-W3-AA1V-06	exon_skip_286068	5461659	5463363	5463084	5463084	Nonsense_Mutation	A	T	p.L311*
STAD	TCGA-HF-7132-01	exon_skip_286068	5461659	5463363	5463094	5463094	Nonsense_Mutation	G	A	p.R308*
SKCM	TCGA-DA-A95X-06	exon_skip_286068	5461659	5463363	5463209	5463209	Nonsense_Mutation	C	T	p.W269*
SKCM	TCGA-YD-A9TA-06	exon_skip_286068	5461659	5463363	5463209	5463209	Nonsense_Mutation	C	T	p.W269*
LUAD	TCGA-05-4427-01	exon_skip_286068	5461659	5463363	5463315	5463315	Nonsense_Mutation	C	T	p.W234*
SKCM	TCGA-FS-A1ZK-06	exon_skip_286032	5421066	5421207	5421208	5421208	Splice_Site	C	T	.
KIRC	TCGA-B0-5094-01	exon_skip_286048	5424844	5425106	5425107	5425107	Splice_Site	C	A	.

- 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
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	5461659	5463363	5461960	5461961	Frame_Shift_Del	TC	-	p.EM685fs
TOV21G_OVARY	5461659	5463363	5462268	5462268	Frame_Shift_Del	T	-	p.K583fs
COLO741_SKIN	5461659	5463363	5463133	5463133	Frame_Shift_Del	G	-	p.L295fs
SNUC4_LARGE_INTESTINE	5461659	5463363	5462267	5462268	Frame_Shift_Ins	-	T	p.K583fs
SCC25_UPPER_AERODIGESTIVE_TRACT	5461659	5463363	5462267	5462268	Frame_Shift_Ins	-	T	p.K583fs
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5424201	5424332	5424250	5424250	Missense_Mutation	C	T	p.R1289H
A498_KIDNEY	5424201	5424332	5424305	5424305	Missense_Mutation	G	C	p.Q1271E
SARC9371_BONE	5424201	5424332	5424312	5424312	Missense_Mutation	C	T	p.M1268I
HUTU80_SMALL_INTESTINE	5424844	5425106	5425014	5425014	Missense_Mutation	T	C	p.I1205V
SISO_CERVIX	5436624	5436704	5436629	5436629	Missense_Mutation	A	G	p.I1043T
SISO_CERVIX	5436612	5436704	5436629	5436629	Missense_Mutation	A	G	p.I1043T
HEC108_ENDOMETRIUM	5437217	5437308	5437228	5437228	Missense_Mutation	C	T	p.R1014K
KYSE450_OESOPHAGUS	5437217	5437308	5437268	5437268	Missense_Mutation	C	T	p.G1001R
MCC26_SKIN	5440171	5440260	5440220	5440220	Missense_Mutation	G	T	p.L971M
NCIH2170_LUNG	5442735	5442905	5442741	5442741	Missense_Mutation	C	A	p.R955L
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5442735	5442905	5442796	5442796	Missense_Mutation	C	T	p.V937I
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5442735	5442905	5442849	5442849	Missense_Mutation	C	T	p.S919N
NCIH748_LUNG	5442735	5442905	5442885	5442885	Missense_Mutation	G	A	p.T907M
C32_SKIN	5461659	5463363	5461846	5461846	Missense_Mutation	C	T	p.E724K
H290_PLEURA	5461659	5463363	5461939	5461939	Missense_Mutation	G	A	p.R693W
KINGS1_CENTRAL_NERVOUS_SYSTEM	5461659	5463363	5462014	5462014	Missense_Mutation	C	A	p.A668S
NB1643_AUTONOMIC_GANGLIA	5461659	5463363	5462018	5462018	Missense_Mutation	A	C	p.F666L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5462026	5462026	Missense_Mutation	C	A	p.G664C
SW756_CERVIX	5461659	5463363	5462188	5462188	Missense_Mutation	G	C	p.L610V
NCIBL1770_MATCHED_NORMAL_TISSUE	5461659	5463363	5462263	5462263	Missense_Mutation	G	A	p.L585F
BT20_BREAST	5461659	5463363	5462270	5462270	Missense_Mutation	T	A	p.K582N
TE4_OESOPHAGUS	5461659	5463363	5462276	5462276	Missense_Mutation	C	A	p.W580C
WM2664_SKIN	5461659	5463363	5462308	5462308	Missense_Mutation	C	T	p.D570N
WM115_SKIN	5461659	5463363	5462308	5462308	Missense_Mutation	C	T	p.D570N
MKN1_STOMACH	5461659	5463363	5462461	5462461	Missense_Mutation	C	A	p.V519L
HEC6_ENDOMETRIUM	5461659	5463363	5462494	5462494	Missense_Mutation	T	C	p.K508E
HUG1N_STOMACH	5461659	5463363	5462527	5462527	Missense_Mutation	C	T	p.E497K
IGROV1_OVARY	5461659	5463363	5462555	5462555	Missense_Mutation	C	A	p.K487N
HS840T_FIBROBLAST	5461659	5463363	5462598	5462598	Missense_Mutation	G	A	p.A473V
EN_ENDOMETRIUM	5461659	5463363	5462617	5462617	Missense_Mutation	T	C	p.I467V
639V_URINARY_TRACT	5461659	5463363	5462646	5462646	Missense_Mutation	G	A	p.T457M
SNU1040_LARGE_INTESTINE	5461659	5463363	5462655	5462655	Missense_Mutation	A	G	p.F454S
SKMEL31_SKIN	5461659	5463363	5462670	5462670	Missense_Mutation	A	G	p.L449P
HT144_SKIN	5461659	5463363	5462676	5462676	Missense_Mutation	G	A	p.T447I
SNU520_STOMACH	5461659	5463363	5462680	5462680	Missense_Mutation	T	C	p.K446E
TCYIK_CERVIX	5461659	5463363	5462706	5462706	Missense_Mutation	T	C	p.D437G
KYSE270_OESOPHAGUS	5461659	5463363	5462817	5462817	Missense_Mutation	G	C	p.S400C
WM88_SKIN	5461659	5463363	5462862	5462862	Missense_Mutation	C	T	p.G385E
COLO800_SKIN	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
CORL279_LUNG	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
HCT116_LARGE_INTESTINE	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
KYSE180_OESOPHAGUS	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
MPP89_PLEURA	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
NCIH292_LUNG	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
SNU1196_BILIARY_TRACT	5461659	5463363	5462886	5462886	Missense_Mutation	A	T	p.V377E
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5462914	5462914	Missense_Mutation	T	A	p.S368C
CCLFPEDS0018T_SOFT_TISSUE	5461659	5463363	5463033	5463033	Missense_Mutation	C	T	p.R328H
SNUC2A_LARGE_INTESTINE	5461659	5463363	5463033	5463033	Missense_Mutation	C	T	p.R328H
SNUC2B_LARGE_INTESTINE	5461659	5463363	5463033	5463033	Missense_Mutation	C	T	p.R328H
SKMEL1_SKIN	5461659	5463363	5463250	5463250	Missense_Mutation	C	T	p.E256K
MCF7_BREAST	5461659	5463363	5463291	5463291	Missense_Mutation	G	T	p.P242Q
KPL1_BREAST	5461659	5463363	5463291	5463291	Missense_Mutation	G	T	p.P242Q
SW684_SOFT_TISSUE	5461659	5463363	5463351	5463351	Missense_Mutation	C	T	p.R222K
HEC251_ENDOMETRIUM	5421066	5421207	5421189	5421189	Nonsense_Mutation	G	A	p.R1312*
MM370_SKIN	5421066	5421207	5421193	5421193	Nonsense_Mutation	G	T	p.C1310*
MFE319_ENDOMETRIUM	5437217	5437308	5437223	5437223	Nonsense_Mutation	C	A	p.G1016*
BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5461696	5461696	Nonsense_Mutation	G	A	p.Q774*
NCIBL1395_MATCHED_NORMAL_TISSUE	5461659	5463363	5462053	5462053	Nonsense_Mutation	T	A	p.K655*
NCIH1395_LUNG	5461659	5463363	5462053	5462053	Nonsense_Mutation	T	A	p.K655*
NCIH1876_LUNG	5461659	5463363	5462592	5462592	Nonsense_Mutation	C	T	p.W475*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5461659	5463363	5463094	5463094	Nonsense_Mutation	G	A	p.R308*
NCIBL1395_MATCHED_NORMAL_TISSUE	5461659	5463363	5463208	5463208	Nonsense_Mutation	T	A	p.K270*
NCIH1395_LUNG	5461659	5463363	5463208	5463208	Nonsense_Mutation	T	A	p.K270*
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5424201	5424332	5424331	5424331	Splice_Site	G	A	p.A1262V
SNU1040_LARGE_INTESTINE	5461659	5463363	5461660	5461660	Splice_Site	G	T	p.L786M

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NLRP1

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
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs2001363	chr17:5462654	G/A	6.03e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs52795654	chr17:5461671	G/C	1.59e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs61753136	chr17:5461847	G/A	1.59e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs61753137	chr17:5461895	C/A	1.59e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs12950235	chr17:5462135	T/C	1.59e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs11651595	chr17:5463279	G/C	1.96e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	COAD	rs11651595	chr17:5463279	G/C	1.57e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LAML	rs11651595	chr17:5463279	G/C	1.61e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LAML	rs2001363	chr17:5462654	G/A	2.44e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LAML	rs2001363	chr17:5462654	G/A	3.28e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LGG	rs52795654	chr17:5461671	G/C	2.77e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LGG	rs61753136	chr17:5461847	G/A	2.77e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LGG	rs61753137	chr17:5461895	C/A	2.77e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LGG	rs12950235	chr17:5462135	T/C	2.77e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs11651595	chr17:5463279	G/C	4.76e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs52795654	chr17:5461671	G/C	6.02e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs61753136	chr17:5461847	G/A	6.02e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs61753137	chr17:5461895	C/A	6.02e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs12950235	chr17:5462135	T/C	6.02e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs2001363	chr17:5462654	G/A	7.09e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	LUAD	rs11651595	chr17:5463279	G/C	1.96e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs11651595	chr17:5463279	G/C	8.71e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs2001363	chr17:5462654	G/A	2.30e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs12950235	chr17:5462135	T/C	3.09e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs52795654	chr17:5461671	G/C	3.14e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs61753136	chr17:5461847	G/A	3.14e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	PRAD	rs61753137	chr17:5461895	C/A	3.14e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs2001363	chr17:5462654	G/A	1.55e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs52795654	chr17:5461671	G/C	1.60e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs61753136	chr17:5461847	G/A	1.60e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs61753137	chr17:5461895	C/A	1.60e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs12950235	chr17:5462135	T/C	1.60e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	STAD	rs11651595	chr17:5463279	G/C	1.84e-03
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs11651595	chr17:5463279	G/C	1.49e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs61753136	chr17:5461847	G/A	1.50e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs52795654	chr17:5461671	G/C	2.05e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs61753137	chr17:5461895	C/A	2.05e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs12950235	chr17:5462135	T/C	2.05e-05
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs2001363	chr17:5462654	G/A	1.61e-04
exon_skip_286068	17	5456705:5456876:5461658:5463363:5485178:5485382	5461658:5463363	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000354411.3,ENST00000269280.4	THCA	rs11651595	chr17:5463279	G/C	3.57e-03
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	COAD	rs34733791	chr17:5437285	G/A	1.16e-03
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	HNSC	rs34733791	chr17:5437285	G/A	3.66e-04
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LAML	rs34733791	chr17:5437285	G/A	1.61e-04
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LGG	rs34733791	chr17:5437285	G/A	2.26e-03
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	KIRC	rs34733791	chr17:5437285	G/A	3.63e-05
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	KIRC	rs34733791	chr17:5437285	G/A	8.34e-04
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs34733791	chr17:5437285	G/A	2.44e-03
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs34733791	chr17:5437285	G/A	3.05e-03
exon_skip_286062	17	5436623:5436704:5437216:5437308:5440170:5440260	5437216:5437308	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	THCA	rs34733791	chr17:5437285	G/A	1.90e-06
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	COAD	rs11657249	chr17:5440248	A/G	8.67e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	COAD	rs7215868	chr17:5440221	T/C	1.15e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	COAD	rs11657249	chr17:5440248	A/G	2.07e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	HNSC	rs7215856	chr17:5440197	T/C	2.15e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	BRCA	rs11657249	chr17:5440248	A/G	4.11e-05
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	BRCA	rs11657249	chr17:5440248	A/G	7.75e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	BRCA	rs11657249	chr17:5440248	A/G	4.87e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LAML	rs7215856	chr17:5440197	T/C	1.19e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LAML	rs7215856	chr17:5440197	T/C	1.20e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LAML	rs7215868	chr17:5440221	T/C	1.61e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LAML	rs11657249	chr17:5440248	A/G	1.61e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LGG	rs7215868	chr17:5440221	T/C	1.35e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LGG	rs11657249	chr17:5440248	A/G	2.74e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	KIRC	rs7215856	chr17:5440197	T/C	6.05e-05
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	KIRC	rs7215856	chr17:5440197	T/C	4.52e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LUAD	rs11657249	chr17:5440248	A/G	2.46e-05
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LUAD	rs11657249	chr17:5440248	A/G	4.44e-05
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LUAD	rs7215868	chr17:5440221	T/C	2.48e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	LUAD	rs7215868	chr17:5440221	T/C	4.61e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs7215868	chr17:5440221	T/C	7.45e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs11657249	chr17:5440248	A/G	7.45e-04
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs7215856	chr17:5440197	T/C	1.12e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs7215868	chr17:5440221	T/C	1.91e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	PRAD	rs11657249	chr17:5440248	A/G	1.91e-03
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	THCA	rs11657249	chr17:5440248	A/G	7.38e-06
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	THCA	rs7215868	chr17:5440221	T/C	1.14e-05
exon_skip_286065	17	5437216:5437308:5440170:5440260:5442734:5442905	5440170:5440260	ENST00000571451.2,ENST00000345221.3,ENST00000571307.1,ENST00000544378.2,ENST00000572272.1,ENST00000262467.5,ENST00000269280.4	THCA	rs7215868	chr17:5440221	T/C	2.13e-03
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	COAD	rs34733791	chr17:5437285	G/A	1.16e-03
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	HNSC	rs34733791	chr17:5437285	G/A	3.66e-04
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	LAML	rs34733791	chr17:5437285	G/A	1.61e-04
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	LGG	rs34733791	chr17:5437285	G/A	2.26e-03
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	KIRC	rs34733791	chr17:5437285	G/A	3.63e-05
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	KIRC	rs34733791	chr17:5437285	G/A	8.34e-04
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	PRAD	rs34733791	chr17:5437285	G/A	2.44e-03
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	PRAD	rs34733791	chr17:5437285	G/A	3.05e-03
exon_skip_286063	17	5436623:5436704:5437216:5437308:5442734:5442905	5437216:5437308	ENST00000577119.1,ENST00000354411.3	THCA	rs34733791	chr17:5437285	G/A	1.90e-06
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	LAML	rs11653832	chr17:5424906	C/G	1.61e-04
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	LAML	rs11653580	chr17:5424991	G/A	1.61e-04
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	KIRC	rs11653832	chr17:5424906	C/G	6.82e-06
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	KIRC	rs11653580	chr17:5424991	G/A	6.82e-06
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	KIRC	rs11651270	chr17:5425077	T/C	7.00e-06
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	KIRC	rs11653832	chr17:5424906	C/G	5.75e-04
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	KIRC	rs11653580	chr17:5424991	G/A	5.75e-04
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	PRAD	rs11653832	chr17:5424906	C/G	1.37e-03
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	PRAD	rs11653580	chr17:5424991	G/A	1.37e-03
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	PRAD	rs11653832	chr17:5424906	C/G	2.92e-03
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	PRAD	rs11653580	chr17:5424991	G/A	2.92e-03
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	THCA	rs11651270	chr17:5425077	T/C	1.17e-15
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	THCA	rs11653832	chr17:5424906	C/G	5.27e-06
exon_skip_286048	17	5421065:5421207:5424843:5425106:5433800:5434024	5424843:5425106	ENST00000577119.1,ENST00000571451.2,ENST00000345221.3,ENST00000269280.4	THCA	rs11653580	chr17:5424991	G/A	5.27e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP1

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RelatedDrugs for NLRP1

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 NLRP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NLRP1	C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	2	CTD_human;UNIPROT
NLRP1	C3808876	CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA	1	ORPHANET;UNIPROT

	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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