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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 NIPBL:

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
ENSG00000164190	NIPBL	0	0	376	ENSG00000164190	ENST00000282516	ENSP00000282516	Nipped-B homolog (Drosophila) [Source:HGNC Symbol;Acc:28862]	5	36876861	37066515	1	p13.2	36876861	37066515	NIPBL	NIPBL-001	HGNC Symbol	HGNC transcript name	8	35.04	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	25836	28862	NIPBL	NM_133433	27527

MSeqDR Master Exome Data Set M1: 174 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	5	36877048	T	A	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	het	1
2	5	36877048	T	A	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	het	1
3	5	36877095	A	G	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	hom	1
4	5	36877095	A	G	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	hom	1
5	5	36877117	A	C	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	het	2
6	5	36877117	A	C	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=3809:850	-	-	-	het	2
7	5	36955688	A	G	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	c.179A>G	p.N60S	non-syn	rs142703446	-	G=2/A=8598;G=7/A=4399;G=9/A=12997	lod=1239:730	TOLERATED	B	-	het	2
8	5	36955688	A	G	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	c.179A>G	p.N60S	non-syn	rs142703446	-	G=2/A=8598;G=7/A=4399;G=9/A=12997	lod=1239:730	TOLERATED	B	-	het	2
9	5	36955688	A	G	ENST00000505998	ENSG00000164190	36876861	37066515	-	NIPBL	1	-	c.158A>G	p.N53S	non-syn	rs142703446	-	G=2/A=8598;G=7/A=4399;G=9/A=12997	lod=1239:730	TOLERATED	B	-	het	2
10	5	36955716	C	G	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	c.207C>G	p.L69L	syn	NA	-	-	lod=1239:730	-	-	-	het	2
11	5	36955716	C	G	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	c.207C>G	p.L69L	syn	NA	-	-	lod=1239:730	-	-	-	het	2
12	5	36955716	C	G	ENST00000505998	ENSG00000164190	36876861	37066515	-	NIPBL	1	-	c.186C>G	p.L62L	syn	NA	-	-	lod=1239:730	-	-	-	het	2
13	5	36958249	A	G	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	c.274A>G	p.I92V	non-syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=147:503	TOLERATED	B	-	het	1
14	5	36958249	A	G	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	c.274A>G	p.I92V	non-syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=147:503	TOLERATED	B	-	het	1
15	5	36958249	A	G	ENST00000505998	ENSG00000164190	36876861	37066515	-	NIPBL	1	-	c.253A>G	p.I85V	non-syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=147:503	TOLERATED	B	-	het	1
16	5	36961692	T	C	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	-	-	+7bp 5'_splice_site	rs200829209	-	C=3/T=8591;C=0/T=4406;C=3/T=12997	-	-	-	-	het	2
17	5	36961692	T	C	ENST00000448238	ENSG00000164190	36876861	37066515	ENSP00000406266	NIPBL	1	NIPBL_HUMAN	-	-	+7bp 5'_splice_site	rs200829209	-	C=3/T=8591;C=0/T=4406;C=3/T=12997	-	-	-	-	het	2
18	5	36961692	T	C	ENST00000504430	ENSG00000164190	36876861	37066515	-	NIPBL	1	-	-	-	+7bp 5'_splice_site	rs200829209	-	C=3/T=8591;C=0/T=4406;C=3/T=12997	-	-	-	-	het	2
19	5	36961692	T	C	ENST00000505998	ENSG00000164190	36876861	37066515	-	NIPBL	1	-	-	-	+7bp 5'_splice_site	rs200829209	-	C=3/T=8591;C=0/T=4406;C=3/T=12997	-	-	-	-	het	2
20	5	36962301	G	A	ENST00000282516	ENSG00000164190	36876861	37066515	ENSP00000282516	NIPBL	1	NIPBL_HUMAN	c.535G>A	p.A179T	non-syn	rs142923613	-	A=29/G=8571;A=0/G=4406;A=29/G=12977	lod=1017:709	DAMAGING	B	-	het	4

** 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 NIPBL 5:36876861..37066515 region Gbrowse