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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term NLRP3:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000162711	NLRP3	0	0	148	ENSG00000162711	ENST00000391828	ENSP00000375704	NLR family, pyrin domain containing 3 [Source:HGNC Symbol;Acc:16400]	1	247579458	247612410	1	q44	247579458	247612410	NLRP3	NLRP3-003	HGNC Symbol	HGNC transcript name	8	46.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	114548	16400	NLRP3	NM_001079821	27511

MSeqDR Master Exome Data Set M1: 359 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	247581542	T	G	ENST00000336119	ENSG00000162711	247579458	247612410	ENSP00000337383	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	het	102
2	1	247581542	T	G	ENST00000336119	ENSG00000162711	247579458	247612410	ENSP00000337383	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	hom	8
3	1	247581542	T	G	ENST00000348069	ENSG00000162711	247579458	247612410	ENSP00000294752	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	het	102
4	1	247581542	T	G	ENST00000348069	ENSG00000162711	247579458	247612410	ENSP00000294752	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	hom	8
5	1	247581542	T	G	ENST00000366496	ENSG00000162711	247579458	247612410	ENSP00000355452	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	het	102
6	1	247581542	T	G	ENST00000366496	ENSG00000162711	247579458	247612410	ENSP00000355452	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	hom	8
7	1	247581542	T	G	ENST00000366497	ENSG00000162711	247579458	247612410	ENSP00000355453	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	het	102
8	1	247581542	T	G	ENST00000366497	ENSG00000162711	247579458	247612410	ENSP00000355453	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	hom	8
9	1	247581542	T	G	ENST00000391828	ENSG00000162711	247579458	247612410	ENSP00000375704	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	het	102
10	1	247581542	T	G	ENST00000391828	ENSG00000162711	247579458	247612410	ENSP00000375704	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs72771992	0.11823	-	lod=27:321	-	-	-	hom	8
11	1	247581560	A	T	ENST00000336119	ENSG00000162711	247579458	247612410	ENSP00000337383	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs116502550	0.01	-	-	-	-	-	het	11
12	1	247581560	A	T	ENST00000348069	ENSG00000162711	247579458	247612410	ENSP00000294752	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs116502550	0.01	-	-	-	-	-	het	11
13	1	247581560	A	T	ENST00000366496	ENSG00000162711	247579458	247612410	ENSP00000355452	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs116502550	0.01	-	-	-	-	-	het	11
14	1	247581560	A	T	ENST00000366497	ENSG00000162711	247579458	247612410	ENSP00000355453	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs116502550	0.01	-	-	-	-	-	het	11
15	1	247581560	A	T	ENST00000391828	ENSG00000162711	247579458	247612410	ENSP00000375704	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs116502550	0.01	-	-	-	-	-	het	11
16	1	247581570	C	T	ENST00000336119	ENSG00000162711	247579458	247612410	ENSP00000337383	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs141994679	0.0071	-	-	-	-	-	het	3
17	1	247581570	C	T	ENST00000348069	ENSG00000162711	247579458	247612410	ENSP00000294752	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs141994679	0.0071	-	-	-	-	-	het	3
18	1	247581570	C	T	ENST00000366496	ENSG00000162711	247579458	247612410	ENSP00000355452	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs141994679	0.0071	-	-	-	-	-	het	3
19	1	247581570	C	T	ENST00000366497	ENSG00000162711	247579458	247612410	ENSP00000355453	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs141994679	0.0071	-	-	-	-	-	het	3
20	1	247581570	C	T	ENST00000391828	ENSG00000162711	247579458	247612410	ENSP00000375704	NLRP3	1	NALP3_HUMAN	-	-	5'_UTR	rs141994679	0.0071	-	-	-	-	-	het	3

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NLRP3 1:247579458..247612410 region Gbrowse