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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 MECP2:

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
ENSG00000268563	MECP2	1	0	824	ENSG00000268563	ENST00000600915		methyl CpG binding protein 2 (Rett syndrome) [Source:HGNC Symbol;Acc:6990]	HG1497_PATCH	153190041	153266223	-1	q28	153200903	153217949	MECP2	MECP2-010	HGNC Symbol	HGNC transcript name	11	46.92	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4204	6990	MECP2		0
ENSG00000169057	MECP2	1	0	824	ENSG00000169057	ENST00000453960	ENSP00000395535	methyl CpG binding protein 2 (Rett syndrome) [Source:HGNC Symbol;Acc:6990]	X	153287024	153363212	-1	q28	153295685	153363177	MECP2	MECP2-002	HGNC Symbol	HGNC transcript name	11	46.92	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	4204	6990	MECP2	NM_001110792	27516

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MSeqDR Master Exome Data Set M1: 242 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	153287105	T	-AGAA	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2087:786	-	-	-	hom	1
2	X	153287314	T	-G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2087:786	-	-	-	hom	3
3	X	153287314	T	-G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2087:786	-	-	-	het	15
4	X	153287314	T	+G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2087:786	-	-	-	het	32
5	X	153287325	T	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2087:786	-	-	-	het	1
6	X	153287557	G	A	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs191797155	0.006	-	-	-	-	-	het	1
7	X	153287962	T	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027915	0.02055	-	-	-	-	-	het	18
8	X	153287962	T	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027915	0.02055	-	-	-	-	-	hom	12
9	X	153287970	G	A	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027916	0.0767	-	-	-	-	-	het	2
10	X	153287970	G	A	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027916	0.0767	-	-	-	-	-	hom	1
11	X	153287992	A	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
12	X	153287992	A	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	X	153288070	G	A	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027917	0.0374	-	-	-	-	-	het	3
14	X	153288070	G	A	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	rs3027917	0.0374	-	-	-	-	-	hom	1
15	X	153288314	C	T	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	X	153288314	C	T	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
17	X	153289153	T	C	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	X	153289173	T	C	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
19	X	153289173	T	C	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
20	X	153289213	C	G	ENST00000303391	ENSG00000169057	153287024	153363212	ENSP00000301948	MECP2	-1	MECP2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding MECP2 X:153287024..153363212 region Gbrowse