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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 NDN:

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
ENSG00000182636	NDN	0	0	0	ENSG00000182636	ENST00000331837	ENSP00000332643	necdin, melanoma antigen (MAGE) family member [Source:HGNC Symbol;Acc:7675]	15	23930565	23932450	-1	q11.2	23930565	23932450	NDN	NDN-001	HGNC Symbol	HGNC transcript name	1	52.55	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4692	7675	NDN	NM_002487	27521

MSeqDR Master Exome Data Set M1: 17 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	15	23930580	T	-ACAG	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	15	23930724	A	C	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	rs75438249	0.04368	-	-	-	-	-	het	59
3	15	23930724	A	C	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	rs75438249	0.04368	-	-	-	-	-	hom	1
4	15	23931007	A	G	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	2
5	15	23931221	T	-ACACA	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
6	15	23931297	C	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	NA	-	-	lod=83:441	-	-	-	het	1
7	15	23931366	G	T	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	15	23931412	A	G	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.953T>C	p.V318A	non-syn	rs114077338	0.003	G=0/A=8546;G=39/A=4341;G=39/A=12887	lod=40:363	DAMAGING	B	-	het	2
9	15	23931416	T	C	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.949A>G	p.S317G	non-syn	rs145312445	0.0061	C=2/T=8542;C=15/T=4375;C=17/T=12917	lod=40:363	DAMAGING	P	-	het	1
10	15	23931507	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.858C>T	p.D286D	syn	rs2192206	0.296	A=1867/G=6727;A=198/G=4204;A=2065/G=10931	lod=189:529	-	-	-	het	290
11	15	23931507	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.858C>T	p.D286D	syn	rs2192206	0.296	A=1867/G=6727;A=198/G=4204;A=2065/G=10931	lod=189:529	-	-	-	hom	52
12	15	23931597	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.768C>T	p.P256P	syn	rs142210120	0.0032	A=3/G=8595;A=17/G=4389;A=20/G=12984	-	-	-	-	het	1
13	15	23931978	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.387C>T	p.I129I	syn	rs145180141	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=167:516	-	-	-	het	1
14	15	23932102	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.263C>T	p.P88L	non-syn	rs114629863	0.0247	A=1/G=8257;A=102/G=4126;A=103/G=12383	-	TOLERATED	B	-	het	1
15	15	23932103	G	T	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.262C>A	p.P88T	non-syn	rs200315781	-	-	-	DAMAGING	B	-	het	6
16	15	23932169	C	T	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.196G>A	p.D66N	non-syn	NA	-	-	lod=23:304	TOLERATED	P	-	het	1
17	15	23932315	G	A	ENST00000331837	ENSG00000182636	23930565	23932450	ENSP00000332643	NDN	-1	NECD_HUMAN	c.50C>T	p.A17V	non-syn	NA	-	A=0/G=6864;A=1/G=3471;A=1/G=10335	-	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 NDN 15:23930565..23932450 region Gbrowse