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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 SLC11A2:

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
ENSG00000110911	SLC11A2	0	0	3	ENSG00000110911	ENST00000550061		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 [Source:HGNC Symbol;Acc:10908]	12	51373184	51422349	-1	q13.12	51389467	51393348	SLC11A2	SLC11A2-021	HGNC Symbol	HGNC transcript name	26	43.54	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	4891	10908	SLC11A2		27519

MSeqDR Master Exome Data Set M1: 421 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	12	51373742	C	T	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706802	0.76239	-	-	-	-	-	het	63
2	12	51373742	C	T	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706802	0.76239	-	-	-	-	-	hom	110
3	12	51373742	C	T	ENST00000546636	ENSG00000110911	51373184	51422349	ENSP00000449008	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706802	0.76239	-	-	-	-	-	het	63
4	12	51373742	C	T	ENST00000546636	ENSG00000110911	51373184	51422349	ENSP00000449008	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706802	0.76239	-	-	-	-	-	hom	110
5	12	51374250	A	G	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706803	0.93601	-	-	-	-	-	hom	164
6	12	51374250	A	G	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706803	0.93601	-	-	-	-	-	het	29
7	12	51374352	G	+A	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs138214186	-	-	-	-	-	-	het	3
8	12	51374352	G	-A	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs35292682	-	-	-	-	-	-	het	58
9	12	51374352	G	-A	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs35292682	-	-	-	-	-	-	hom	7
10	12	51374479	T	C	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	12	51374748	G	T	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs829022	0.75949	-	-	-	-	-	hom	110
12	12	51374748	G	T	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs829022	0.75949	-	-	-	-	-	het	62
13	12	51374923	A	G	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs15897	0.16055	-	-	-	-	-	het	54
14	12	51374923	A	G	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs15897	0.16055	-	-	-	-	-	hom	7
15	12	51374923	A	G	ENST00000547198	ENSG00000110911	51373184	51422349	ENSP00000446769	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs15897	0.16055	-	-	-	-	-	het	54
16	12	51374923	A	G	ENST00000547198	ENSG00000110911	51373184	51422349	ENSP00000446769	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs15897	0.16055	-	-	-	-	-	hom	7
17	12	51375066	G	A	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706804	0.94063	-	-	-	-	-	het	27
18	12	51375066	G	A	ENST00000262051	ENSG00000110911	51373184	51422349	ENSP00000262051	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706804	0.94063	-	-	-	-	-	hom	159
19	12	51375066	G	A	ENST00000547198	ENSG00000110911	51373184	51422349	ENSP00000446769	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706804	0.94063	-	-	-	-	-	het	27
20	12	51375066	G	A	ENST00000547198	ENSG00000110911	51373184	51422349	ENSP00000446769	SLC11A2	-1	NRAM2_HUMAN	-	-	3'_UTR	rs706804	0.94063	-	-	-	-	-	hom	159

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Transcripts and variants in the surrounding SLC11A2 12:51373184..51422349 region Gbrowse