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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 NOD2:

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
ENSG00000167207	NOD2	0	0	106	ENSG00000167207	ENST00000526417		nucleotide-binding oligomerization domain containing 2 [Source:HGNC Symbol;Acc:5331]	16	50727514	50766988	1	q12.1	50727514	50744862	NOD2	NOD2-003	HGNC Symbol	HGNC transcript name	10	48.1	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	64127	5331	NOD2		27514

MSeqDR Master Exome Data Set M1: 205 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	16	50731058	A	-T	ENST00000300589	ENSG00000167207	50727514	50766988	ENSP00000300589	NOD2	1	NOD2_HUMAN	-	-	5'_UTR	rs5743265	-	-	-	-	-	-	het	5
2	16	50731058	A	-T	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	5'_UTR	rs5743265	-	-	-	-	-	-	het	5
3	16	50731058	A	-T	ENST00000532206	ENSG00000167207	50727514	50766988	-	NOD2	1	-	c.9_9del	p.D3NA	non-syn	rs5743265	-	-	-	-	-	-	het	5
4	16	50731096	G	A	ENST00000300589	ENSG00000167207	50727514	50766988	ENSP00000300589	NOD2	1	NOD2_HUMAN	-	-	5'_UTR	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	het	270
5	16	50731096	G	A	ENST00000300589	ENSG00000167207	50727514	50766988	ENSP00000300589	NOD2	1	NOD2_HUMAN	-	-	5'_UTR	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	hom	62
6	16	50731096	G	A	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	5'_UTR	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	het	270
7	16	50731096	G	A	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	5'_UTR	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	hom	62
8	16	50731096	G	A	ENST00000532206	ENSG00000167207	50727514	50766988	-	NOD2	1	-	c.46G>A	p.V16I	non-syn	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	het	270
9	16	50731096	G	A	ENST00000532206	ENSG00000167207	50727514	50766988	-	NOD2	1	-	c.46G>A	p.V16I	non-syn	rs5743266	0.24803	A=922/G=2260;A=201/G=1183;A=1123/G=3443	-	-	-	-	hom	62
10	16	50731291	G	A	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	16	50731828	T	+C	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	16	50733392	T	A	ENST00000300589	ENSG00000167207	50727514	50766988	ENSP00000300589	NOD2	1	NOD2_HUMAN	-	-	-7bp 3'_splice_site	rs104895421	0.00288	A=16/T=8580;A=1/T=4395;A=17/T=12975	-	-	-	HGMD	het	4
13	16	50733392	T	A	ENST00000526417	ENSG00000167207	50727514	50766988	-	NOD2	1	-	-	-	-7bp 3'_splice_site	rs104895421	0.00288	A=16/T=8580;A=1/T=4395;A=17/T=12975	-	-	-	HGMD	het	4
14	16	50733392	T	A	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	-7bp 3'_splice_site	rs104895421	0.00288	A=16/T=8580;A=1/T=4395;A=17/T=12975	-	-	-	HGMD	het	4
15	16	50733392	T	A	ENST00000531674	ENSG00000167207	50727514	50766988	ENSP00000431681	NOD2	1	-	-	-	-7bp 3'_splice_site	rs104895421	0.00288	A=16/T=8580;A=1/T=4395;A=17/T=12975	-	-	-	HGMD	het	4
16	16	50733392	T	A	ENST00000532206	ENSG00000167207	50727514	50766988	-	NOD2	1	-	-	-	-7bp 3'_splice_site	rs104895421	0.00288	A=16/T=8580;A=1/T=4395;A=17/T=12975	-	-	-	HGMD	het	4
17	16	50733452	G	A	ENST00000300589	ENSG00000167207	50727514	50766988	ENSP00000300589	NOD2	1	NOD2_HUMAN	c.127G>A	p.E43K	non-syn	rs200089552	-	-	lod=194:532	TOLERATED	B	-	het	1
18	16	50733452	G	A	ENST00000526417	ENSG00000167207	50727514	50766988	-	NOD2	1	-	c.114G>A	p.S38S	syn	rs200089552	-	-	lod=194:532	TOLERATED	B	-	het	1
19	16	50733452	G	A	ENST00000527070	ENSG00000167207	50727514	50766988	ENSP00000435149	NOD2	1	-	-	-	3'_UTR	rs200089552	-	-	lod=194:532	TOLERATED	B	-	het	1
20	16	50733452	G	A	ENST00000531674	ENSG00000167207	50727514	50766988	ENSP00000431681	NOD2	1	-	c.46G>A	p.E16K	non-syn	rs200089552	-	-	lod=194:532	TOLERATED	B	-	het	1

** 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.

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Transcripts and variants in the surrounding NOD2 16:50727514..50766988 region Gbrowse