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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 ABCD1:

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
ENSG00000268757	ABCD1	1	0	70	ENSG00000268757	ENST00000601366	ENSP00000473207	ATP-binding cassette, sub-family D (ALD), member 1 [Source:HGNC Symbol;Acc:61]	HG1497_PATCH	152893340	152913233	1	q28	152893340	152913233	ABCD1	ABCD1-001	HGNC Symbol	HGNC transcript name	3	58.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	215	61	ABCD1		0
ENSG00000101986	ABCD1	1	0	70	ENSG00000101986	ENST00000218104	ENSP00000218104	ATP-binding cassette, sub-family D (ALD), member 1 [Source:HGNC Symbol;Acc:61]	X	152990323	153010216	1	q28	152990323	153010216	ABCD1	ABCD1-001	HGNC Symbol	HGNC transcript name	3	58.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	215	61	ABCD1	NM_000033	27516

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MSeqDR Master Exome Data Set M1: 77 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	X	152990663	C	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	-	-	5'_UTR	rs4148030	0.0798	-	lod=21:295	-	-	-	het	62
2	X	152990663	C	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	-	-	5'_UTR	rs4148030	0.0798	-	lod=21:295	-	-	-	hom	32
3	X	152990759	A	C	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.38A>C	p.N13T	non-syn	rs183021839	0.0018	C=3/A=5648;C=0/A=3271;C=3/A=8919	lod=39:361	TOLERATED	B	-	hom	2
4	X	152990759	A	C	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.38A>C	p.N13T	non-syn	rs183021839	0.0018	C=3/A=5648;C=0/A=3271;C=3/A=8919	lod=39:361	TOLERATED	B	-	het	3
5	X	152990929	G	C	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.208G>C	p.V70L	non-syn	NA	-	-	lod=47:381	TOLERATED	P	-	het	1
6	X	152990929	G	C	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.208G>C	p.V70L	non-syn	NA	-	-	lod=47:381	TOLERATED	P	-	hom	1
7	X	152991113	G	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.392G>T	p.G131V	non-syn	NA	-	T=1/G=6709;T=0/G=3824;T=1/G=10533	lod=52:391	TOLERATED	B	-	het	3
8	X	152991113	G	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.392G>T	p.G131V	non-syn	NA	-	T=1/G=6709;T=0/G=3824;T=1/G=10533	lod=52:391	TOLERATED	B	-	hom	1
9	X	152991192	A	G	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.471A>G	p.Q157Q	syn	rs151148684	-	G=0/A=6728;G=60/A=3773;G=60/A=10501	lod=275:569	-	-	-	hom	2
10	X	152991356	A	C	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.635A>C	p.Y212S	non-syn	NA	-	-	lod=263:565	DAMAGING	D	-	het	4
11	X	152991356	A	C	ENST00000370129	ENSG00000101986	152990323	153010216	ENSP00000359147	ABCD1	1	-	c.80A>C	p.Y27S	non-syn	NA	-	-	lod=263:565	DAMAGING	D	-	het	4
12	X	152991417	G	A	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.696G>A	p.A232A	syn	NA	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	het	1
13	X	152991417	G	A	ENST00000370129	ENSG00000101986	152990323	153010216	ENSP00000359147	ABCD1	1	-	c.141G>A	p.A47A	syn	NA	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	het	1
14	X	152991417	G	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.696G>T	p.A232A	syn	rs147595334	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	het	1
15	X	152991417	G	T	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.696G>T	p.A232A	syn	rs147595334	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	hom	1
16	X	152991417	G	T	ENST00000370129	ENSG00000101986	152990323	153010216	ENSP00000359147	ABCD1	1	-	c.141G>T	p.A47A	syn	rs147595334	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	het	1
17	X	152991417	G	T	ENST00000370129	ENSG00000101986	152990323	153010216	ENSP00000359147	ABCD1	1	-	c.141G>T	p.A47A	syn	rs147595334	-	T=4/G=6723;T=45/G=3790;T=49/G=10513	lod=34:346	-	-	-	hom	1
18	X	152991428	G	A	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.707G>A	p.R236H	non-syn	rs201455322	-	A=8/G=6716;A=1/G=3832;A=9/G=10548	lod=34:346	DAMAGING	D	HGMD	het	2
19	X	152991428	G	A	ENST00000218104	ENSG00000101986	152990323	153010216	ENSP00000218104	ABCD1	1	ABCD1_HUMAN	c.707G>A	p.R236H	non-syn	rs201455322	-	A=8/G=6716;A=1/G=3832;A=9/G=10548	lod=34:346	DAMAGING	D	HGMD	hom	1
20	X	152991428	G	A	ENST00000370129	ENSG00000101986	152990323	153010216	ENSP00000359147	ABCD1	1	-	c.152G>A	p.R51H	non-syn	rs201455322	-	A=8/G=6716;A=1/G=3832;A=9/G=10548	lod=34:346	DAMAGING	D	HGMD	het	2

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Transcripts and variants in the surrounding ABCD1 X:152990323..153010216 region Gbrowse