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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 ABCB7:

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
ENSG00000131269	ABCB7	1	5	26	ENSG00000131269	ENST00000253577	ENSP00000253577	ATP-binding cassette, sub-family B (MDR/TAP), member 7 [Source:HGNC Symbol;Acc:48]	X	74273115	74376567	-1	q13.3	74273115	74376132	ABCB7	ABCB7-001	HGNC Symbol	HGNC transcript name	9	35.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	22	48	ABCB7	NM_001271696	27516

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	X	74280041	A	T	ENST00000253577	ENSG00000131269	74273115	74376567	ENSP00000253577	ABCB7	-1	ABCB7_HUMAN	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	hom	8
2	X	74280041	A	T	ENST00000253577	ENSG00000131269	74273115	74376567	ENSP00000253577	ABCB7	-1	ABCB7_HUMAN	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	het	2
3	X	74280041	A	T	ENST00000339447	ENSG00000131269	74273115	74376567	ENSP00000343849	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	hom	8
4	X	74280041	A	T	ENST00000339447	ENSG00000131269	74273115	74376567	ENSP00000343849	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	het	2
5	X	74280041	A	T	ENST00000373394	ENSG00000131269	74273115	74376567	ENSP00000362492	ABCB7	-1	ABCB7_HUMAN	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	hom	8
6	X	74280041	A	T	ENST00000373394	ENSG00000131269	74273115	74376567	ENSP00000362492	ABCB7	-1	ABCB7_HUMAN	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	het	2
7	X	74280041	A	T	ENST00000490858	ENSG00000131269	74273115	74376567	-	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	hom	8
8	X	74280041	A	T	ENST00000490858	ENSG00000131269	74273115	74376567	-	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	het	2
9	X	74280041	A	T	ENST00000529949	ENSG00000131269	74273115	74376567	ENSP00000436586	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	hom	8
10	X	74280041	A	T	ENST00000529949	ENSG00000131269	74273115	74376567	ENSP00000436586	ABCB7	-1	-	-	-	+17bp 5'_splice_site	rs73502896	0.1934	T=8/A=6719;T=1097/A=2738;T=1105/A=9457	-	-	-	-	het	2
11	X	74282175	C	A	ENST00000253577	ENSG00000131269	74273115	74376567	ENSP00000253577	ABCB7	-1	ABCB7_HUMAN	c.1926G>T	p.S642S	syn	NA	-	-	lod=287:574	-	-	-	het	2
12	X	74282175	C	A	ENST00000253577	ENSG00000131269	74273115	74376567	ENSP00000253577	ABCB7	-1	ABCB7_HUMAN	c.1926G>T	p.S642S	syn	NA	-	-	lod=287:574	-	-	-	hom	1
13	X	74282175	C	A	ENST00000339447	ENSG00000131269	74273115	74376567	ENSP00000343849	ABCB7	-1	-	c.1803G>T	p.S601S	syn	NA	-	-	lod=287:574	-	-	-	het	2
14	X	74282175	C	A	ENST00000339447	ENSG00000131269	74273115	74376567	ENSP00000343849	ABCB7	-1	-	c.1803G>T	p.S601S	syn	NA	-	-	lod=287:574	-	-	-	hom	1
15	X	74282175	C	A	ENST00000373394	ENSG00000131269	74273115	74376567	ENSP00000362492	ABCB7	-1	ABCB7_HUMAN	c.1923G>T	p.S641S	syn	NA	-	-	lod=287:574	-	-	-	het	2
16	X	74282175	C	A	ENST00000373394	ENSG00000131269	74273115	74376567	ENSP00000362492	ABCB7	-1	ABCB7_HUMAN	c.1923G>T	p.S641S	syn	NA	-	-	lod=287:574	-	-	-	hom	1
17	X	74282175	C	A	ENST00000490858	ENSG00000131269	74273115	74376567	-	ABCB7	-1	-	c.288G>T	p.S96S	syn	NA	-	-	lod=287:574	-	-	-	het	2
18	X	74282175	C	A	ENST00000490858	ENSG00000131269	74273115	74376567	-	ABCB7	-1	-	c.288G>T	p.S96S	syn	NA	-	-	lod=287:574	-	-	-	hom	1
19	X	74282175	C	A	ENST00000529949	ENSG00000131269	74273115	74376567	ENSP00000436586	ABCB7	-1	-	c.1845G>T	p.S615S	syn	NA	-	-	lod=287:574	-	-	-	het	2
20	X	74282175	C	A	ENST00000529949	ENSG00000131269	74273115	74376567	ENSP00000436586	ABCB7	-1	-	c.1845G>T	p.S615S	syn	NA	-	-	lod=287:574	-	-	-	hom	1

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Transcripts and variants in the surrounding ABCB7 X:74273115..74376567 region Gbrowse