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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 ENSG00000101247:

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
ENSG00000101247	NDUFAF5	1	80	19	ENSG00000101247	ENST00000378106	ENSP00000367346	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 [Source:HGNC Symbol;Acc:15899]	20	13765596	13799067	1	p12.1	13765596	13799067	NDUFAF5	NDUFAF5-006	HGNC Symbol	HGNC transcript name	16	39.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	79133	15899	NDUFAF5	NM_024120	27522

MSeqDR Master Exome Data Set M1: 292 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	20	13765698	T	C	ENST00000378081	ENSG00000101247	13765596	13799067	ENSP00000437325	NDUFAF5	1	-	-	-	5'_UTR	rs116192508	0.006	C=0/T=8582;C=18/T=4372;C=18/T=12954	-	-	-	-	het	1
2	20	13765698	T	C	ENST00000378106	ENSG00000101247	13765596	13799067	ENSP00000367346	NDUFAF5	1	NDUF5_HUMAN	-	-	5'_UTR	rs116192508	0.006	C=0/T=8582;C=18/T=4372;C=18/T=12954	-	-	-	-	het	1
3	20	13765698	T	C	ENST00000463598	ENSG00000101247	13765596	13799067	ENSP00000420497	NDUFAF5	1	NDUF5_HUMAN	-	-	5'_UTR	rs116192508	0.006	C=0/T=8582;C=18/T=4372;C=18/T=12954	-	-	-	-	het	1
4	20	13765734	T	C	ENST00000378081	ENSG00000101247	13765596	13799067	ENSP00000437325	NDUFAF5	1	-	c.20T>C	p.L7P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
5	20	13765734	T	C	ENST00000378106	ENSG00000101247	13765596	13799067	ENSP00000367346	NDUFAF5	1	NDUF5_HUMAN	c.20T>C	p.L7P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
6	20	13765734	T	C	ENST00000463598	ENSG00000101247	13765596	13799067	ENSP00000420497	NDUFAF5	1	NDUF5_HUMAN	c.20T>C	p.L7P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
7	20	13765734	T	C	ENST00000475968	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.1T>C	p.S1P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
8	20	13765734	T	C	ENST00000477732	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.3T>C	p.A1A	syn	NA	-	-	-	TOLERATED	B	-	het	1
9	20	13765734	T	C	ENST00000481249	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.1T>C	p.S1P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
10	20	13765734	T	C	ENST00000485738	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.19T>C	p.S7P	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
11	20	13765822	C	T	ENST00000378081	ENSG00000101247	13765596	13799067	ENSP00000437325	NDUFAF5	1	-	c.108C>T	p.R36R	syn	NA	-	-	-	-	-	-	het	4
12	20	13765822	C	T	ENST00000378106	ENSG00000101247	13765596	13799067	ENSP00000367346	NDUFAF5	1	NDUF5_HUMAN	c.108C>T	p.R36R	syn	NA	-	-	-	-	-	-	het	4
13	20	13765822	C	T	ENST00000463598	ENSG00000101247	13765596	13799067	ENSP00000420497	NDUFAF5	1	NDUF5_HUMAN	c.108C>T	p.R36R	syn	NA	-	-	-	-	-	-	het	4
14	20	13765822	C	T	ENST00000475968	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.89C>T	p.A30V	non-syn	NA	-	-	-	-	-	-	het	4
15	20	13765822	C	T	ENST00000477732	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.91C>T	p.R31W	non-syn	NA	-	-	-	-	-	-	het	4
16	20	13765822	C	T	ENST00000481249	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.89C>T	p.A30V	non-syn	NA	-	-	-	-	-	-	het	4
17	20	13765822	C	T	ENST00000485738	ENSG00000101247	13765596	13799067	-	NDUFAF5	1	-	c.107C>T	p.A36V	non-syn	NA	-	-	-	-	-	-	het	4
18	20	13765835	C	G	ENST00000378081	ENSG00000101247	13765596	13799067	ENSP00000437325	NDUFAF5	1	-	c.121C>G	p.P41A	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
19	20	13765835	C	G	ENST00000378106	ENSG00000101247	13765596	13799067	ENSP00000367346	NDUFAF5	1	NDUF5_HUMAN	c.121C>G	p.P41A	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
20	20	13765835	C	G	ENST00000463598	ENSG00000101247	13765596	13799067	ENSP00000420497	NDUFAF5	1	NDUF5_HUMAN	c.121C>G	p.P41A	non-syn	NA	-	-	-	TOLERATED	B	-	het	2

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NDUFAF5 20:13765596..13799067 region Gbrowse