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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 ENSG00000169599:

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
ENSG00000169599	NFU1	1	98	9	ENSG00000169599	ENST00000410022	ENSP00000387219	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:16287]	2	69622882	69664760	-1	p13.3	69622882	69664760	NFU1	NFU1-001	HGNC Symbol	HGNC transcript name	10	41.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	27247	16287	NFU1	NM_001002755	27508

MSeqDR Master Exome Data Set M1: 113 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	69622890	C	+T	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
2	2	69622940	C	T	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	2	69623069	T	C	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	2	69623071	G	+A	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	2	69623136	A	G	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	rs10170036	0.56492	-	-	-	-	-	het	341
6	2	69623136	A	G	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	3'_UTR	rs10170036	0.56492	-	-	-	-	-	hom	246
7	2	69626359	A	-G	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	3
8	2	69626454	T	C	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	-	-	3'_UTR	rs185193872	0.0037	-	-	-	-	-	het	2
9	2	69626488	C	T	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	c.378G>A	p.Q126Q	syn	NA	-	-	-	-	-	-	het	21
10	2	69626520	G	C	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
11	2	69626529	C	-AAAA	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
12	2	69627686	A	G	ENST00000303698	ENSG00000169599	69622882	69664760	ENSP00000306965	NFU1	-1	NFU1_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
13	2	69627686	A	G	ENST00000394305	ENSG00000169599	69622882	69664760	ENSP00000377842	NFU1	-1	NFU1_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
14	2	69627686	A	G	ENST00000410022	ENSG00000169599	69622882	69664760	ENSP00000387219	NFU1	-1	NFU1_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
15	2	69627686	A	G	ENST00000450796	ENSG00000169599	69622882	69664760	ENSP00000415102	NFU1	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
16	2	69627686	A	G	ENST00000462320	ENSG00000169599	69622882	69664760	ENSP00000418598	NFU1	-1	NFU1_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
17	2	69627686	A	G	ENST00000474230	ENSG00000169599	69622882	69664760	ENSP00000418882	NFU1	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
18	2	69627686	A	G	ENST00000484177	ENSG00000169599	69622882	69664760	ENSP00000417693	NFU1	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
19	2	69642390	A	G	ENST00000303698	ENSG00000169599	69622882	69664760	ENSP00000306965	NFU1	-1	NFU1_HUMAN	c.339T>C	p.I113I	syn	rs12474866	0.03205	G=2/A=8598;G=13/A=4393;G=15/A=12991	lod=468:626	-	-	-	het	12
20	2	69642390	A	G	ENST00000394305	ENSG00000169599	69622882	69664760	ENSP00000377842	NFU1	-1	NFU1_HUMAN	-	-	5'_UTR	rs12474866	0.03205	G=2/A=8598;G=13/A=4393;G=15/A=12991	lod=468:626	-	-	-	het	12

** 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 NFU1 2:69622882..69664760 region Gbrowse