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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 NLRC4:

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
ENSG00000091106	NLRC4	0	0	23	ENSG00000091106	ENST00000360906	ENSP00000354159	NLR family, CARD domain containing 4 [Source:HGNC Symbol;Acc:16412]	2	32449522	32490923	-1	p22.3	32449522	32490801	NLRC4	NLRC4-002	HGNC Symbol	HGNC transcript name	4	42.88	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	58484	16412	NLRC4	NM_001199139	27508

MSeqDR Master Exome Data Set M1: 110 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	2	32449584	A	C	ENST00000342905	ENSG00000091106	32449522	32490923	ENSP00000339666	NLRC4	-1	NLRC4_HUMAN	c.1038T>G	p.D346E	non-syn	rs150062306	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	-	DAMAGING	D	-	het	2
2	2	32449584	A	C	ENST00000360906	ENSG00000091106	32449522	32490923	ENSP00000354159	NLRC4	-1	NLRC4_HUMAN	c.3033T>G	p.D1011E	non-syn	rs150062306	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	-	DAMAGING	D	-	het	2
3	2	32449584	A	C	ENST00000402280	ENSG00000091106	32449522	32490923	ENSP00000385428	NLRC4	-1	NLRC4_HUMAN	c.3033T>G	p.D1011E	non-syn	rs150062306	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	-	DAMAGING	D	-	het	2
4	2	32449584	A	C	ENST00000404025	ENSG00000091106	32449522	32490923	ENSP00000385090	NLRC4	-1	NLRC4_HUMAN	c.3033T>G	p.D1011E	non-syn	rs150062306	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	-	DAMAGING	D	-	het	2
5	2	32449672	G	C	ENST00000342905	ENSG00000091106	32449522	32490923	ENSP00000339666	NLRC4	-1	NLRC4_HUMAN	c.950C>G	p.A317G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	het	2
6	2	32449672	G	C	ENST00000342905	ENSG00000091106	32449522	32490923	ENSP00000339666	NLRC4	-1	NLRC4_HUMAN	c.950C>G	p.A317G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	hom	1
7	2	32449672	G	C	ENST00000360906	ENSG00000091106	32449522	32490923	ENSP00000354159	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	het	2
8	2	32449672	G	C	ENST00000360906	ENSG00000091106	32449522	32490923	ENSP00000354159	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	hom	1
9	2	32449672	G	C	ENST00000402280	ENSG00000091106	32449522	32490923	ENSP00000385428	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	het	2
10	2	32449672	G	C	ENST00000402280	ENSG00000091106	32449522	32490923	ENSP00000385428	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	hom	1
11	2	32449672	G	C	ENST00000404025	ENSG00000091106	32449522	32490923	ENSP00000385090	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	het	2
12	2	32449672	G	C	ENST00000404025	ENSG00000091106	32449522	32490923	ENSP00000385090	NLRC4	-1	NLRC4_HUMAN	c.2945C>G	p.A982G	non-syn	rs147896952	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	DAMAGING	B	-	hom	1
13	2	32449832	C	A	ENST00000342905	ENSG00000091106	32449522	32490923	ENSP00000339666	NLRC4	-1	NLRC4_HUMAN	c.790G>T	p.A264S	non-syn	rs61754192	0.0057	A=109/C=8491;A=10/C=4396;A=119/C=12887	-	TOLERATED	B	-	het	11
14	2	32449832	C	A	ENST00000360906	ENSG00000091106	32449522	32490923	ENSP00000354159	NLRC4	-1	NLRC4_HUMAN	c.2785G>T	p.A929S	non-syn	rs61754192	0.0057	A=109/C=8491;A=10/C=4396;A=119/C=12887	-	TOLERATED	B	-	het	11
15	2	32449832	C	A	ENST00000402280	ENSG00000091106	32449522	32490923	ENSP00000385428	NLRC4	-1	NLRC4_HUMAN	c.2785G>T	p.A929S	non-syn	rs61754192	0.0057	A=109/C=8491;A=10/C=4396;A=119/C=12887	-	TOLERATED	B	-	het	11
16	2	32449832	C	A	ENST00000404025	ENSG00000091106	32449522	32490923	ENSP00000385090	NLRC4	-1	NLRC4_HUMAN	c.2785G>T	p.A929S	non-syn	rs61754192	0.0057	A=109/C=8491;A=10/C=4396;A=119/C=12887	-	TOLERATED	B	-	het	11
17	2	32460512	A	G	ENST00000342905	ENSG00000091106	32449522	32490923	ENSP00000339666	NLRC4	-1	NLRC4_HUMAN	c.745T>C	p.L249L	syn	rs34716166	-	G=16/A=8584;G=1/A=4405;G=17/A=12989	-	-	-	-	het	19
18	2	32460512	A	G	ENST00000360906	ENSG00000091106	32449522	32490923	ENSP00000354159	NLRC4	-1	NLRC4_HUMAN	c.2740T>C	p.L914L	syn	rs34716166	-	G=16/A=8584;G=1/A=4405;G=17/A=12989	-	-	-	-	het	19
19	2	32460512	A	G	ENST00000402280	ENSG00000091106	32449522	32490923	ENSP00000385428	NLRC4	-1	NLRC4_HUMAN	c.2740T>C	p.L914L	syn	rs34716166	-	G=16/A=8584;G=1/A=4405;G=17/A=12989	-	-	-	-	het	19
20	2	32460512	A	G	ENST00000404025	ENSG00000091106	32449522	32490923	ENSP00000385090	NLRC4	-1	NLRC4_HUMAN	c.2740T>C	p.L914L	syn	rs34716166	-	G=16/A=8584;G=1/A=4405;G=17/A=12989	-	-	-	-	het	19

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Transcripts and variants in the surrounding NLRC4 2:32449522..32490923 region Gbrowse