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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 FMR1:

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
ENSG00000268103	FMR1	0	0	16	ENSG00000268103	ENST00000600195		fragile X mental retardation 1 [Source:HGNC Symbol;Acc:3775]	HG1459_PATCH	146993666	147032842	1	q27.3	147026410	147027432	FMR1	FMR1-008	HGNC Symbol	HGNC transcript name	13	36.36	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	2332	3775	FMR1		0
ENSG00000102081	FMR1	0	0	16	ENSG00000102081	ENST00000334557	ENSP00000355115	fragile X mental retardation 1 [Source:HGNC Symbol;Acc:3775]	X	146993469	147032645	1	q27.3	146993570	147015206	FMR1	FMR1-002	HGNC Symbol	HGNC transcript name	13	36.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2332	3775	FMR1		27516

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MSeqDR Master Exome Data Set M1: 331 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	146993617	C	A	ENST00000218200	ENSG00000102081	146993469	147032645	ENSP00000218200	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
2	X	146993617	C	A	ENST00000334557	ENSG00000102081	146993469	147032645	ENSP00000355115	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
3	X	146993617	C	A	ENST00000370471	ENSG00000102081	146993469	147032645	ENSP00000359502	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
4	X	146993617	C	A	ENST00000370475	ENSG00000102081	146993469	147032645	ENSP00000359506	FMR1	1	FMR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
5	X	146993617	C	A	ENST00000370477	ENSG00000102081	146993469	147032645	ENSP00000359508	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
6	X	146993617	C	A	ENST00000439526	ENSG00000102081	146993469	147032645	ENSP00000395923	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
7	X	146993631	G	C	ENST00000218200	ENSG00000102081	146993469	147032645	ENSP00000218200	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
8	X	146993631	G	C	ENST00000218200	ENSG00000102081	146993469	147032645	ENSP00000218200	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
9	X	146993631	G	C	ENST00000334557	ENSG00000102081	146993469	147032645	ENSP00000355115	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
10	X	146993631	G	C	ENST00000334557	ENSG00000102081	146993469	147032645	ENSP00000355115	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
11	X	146993631	G	C	ENST00000370471	ENSG00000102081	146993469	147032645	ENSP00000359502	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
12	X	146993631	G	C	ENST00000370471	ENSG00000102081	146993469	147032645	ENSP00000359502	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
13	X	146993631	G	C	ENST00000370475	ENSG00000102081	146993469	147032645	ENSP00000359506	FMR1	1	FMR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
14	X	146993631	G	C	ENST00000370475	ENSG00000102081	146993469	147032645	ENSP00000359506	FMR1	1	FMR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
15	X	146993631	G	C	ENST00000370477	ENSG00000102081	146993469	147032645	ENSP00000359508	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
16	X	146993631	G	C	ENST00000370477	ENSG00000102081	146993469	147032645	ENSP00000359508	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
17	X	146993631	G	C	ENST00000439526	ENSG00000102081	146993469	147032645	ENSP00000395923	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	het	1
18	X	146993631	G	C	ENST00000439526	ENSG00000102081	146993469	147032645	ENSP00000395923	FMR1	1	-	-	-	5'_UTR	NA	-	-	lod=257:562	-	-	-	hom	1
19	X	146993715	G	T	ENST00000218200	ENSG00000102081	146993469	147032645	ENSP00000218200	FMR1	1	-	c.18G>T	p.V6V	syn	rs111485627	0.0115	T=79/G=6026;T=6/G=3525;T=85/G=9551	lod=163:514	-	-	-	hom	9
20	X	146993715	G	T	ENST00000218200	ENSG00000102081	146993469	147032645	ENSP00000218200	FMR1	1	-	c.18G>T	p.V6V	syn	rs111485627	0.0115	T=79/G=6026;T=6/G=3525;T=85/G=9551	lod=163:514	-	-	-	het	20

** 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,
**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 FMR1 X:146993469..147032645 region Gbrowse