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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 BRCA2:

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
ENSG00000139618	BRCA2	1	1	5252	ENSG00000139618	ENST00000380152	ENSP00000369497	breast cancer 2, early onset [Source:HGNC Symbol;Acc:1101]	13	32889611	32973805	1	q13.1	32889611	32973347	BRCA2	BRCA2-001	HGNC Symbol	HGNC transcript name	6	38.09	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	675	1101	BRCA2		27513

MSeqDR Master Exome Data Set M1: 283 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	13	32890572	G	A	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	het	387
2	13	32890572	G	A	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	hom	79
3	13	32890572	G	A	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	het	387
4	13	32890572	G	A	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	hom	79
5	13	32890572	G	A	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	het	387
6	13	32890572	G	A	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs1799943	0.3105	A=2264/G=6336;A=452/G=3954;A=2716/G=10290	-	-	-	HGMD	hom	79
7	13	32890583	A	C	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs138705202	0.0042	C=0/A=8600;C=5/A=4401;C=5/A=13001	-	-	-	-	het	1
8	13	32890583	A	C	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	rs138705202	0.0042	C=0/A=8600;C=5/A=4401;C=5/A=13001	-	-	-	-	het	1
9	13	32890583	A	C	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	-	-	5'_UTR	rs138705202	0.0042	C=0/A=8600;C=5/A=4401;C=5/A=13001	-	-	-	-	het	1
10	13	32893197	A	+T	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
11	13	32893197	A	+T	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
12	13	32893197	A	+T	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
13	13	32893225	A	G	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	c.79A>G	p.I27V	non-syn	rs80359034	-	-	lod=236:553	DAMAGING	D	-	het	1
14	13	32893225	A	G	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	rs80359034	-	-	lod=236:553	DAMAGING	D	-	het	1
15	13	32893225	A	G	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	c.79A>G	p.I27V	non-syn	rs80359034	-	-	lod=236:553	DAMAGING	D	-	het	1
16	13	32893271	A	G	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	c.125A>G	p.Y42C	non-syn	rs4987046	0.00093	G=28/A=8572;G=4/A=4402;G=32/A=12974	lod=24:309	DAMAGING	B	Breast cancer ?	het	3
17	13	32893271	A	G	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	rs4987046	0.00093	G=28/A=8572;G=4/A=4402;G=32/A=12974	lod=24:309	DAMAGING	B	Breast cancer ?	het	3
18	13	32893271	A	G	ENST00000544455	ENSG00000139618	32889611	32973805	ENSP00000439902	BRCA2	1	BRCA2_HUMAN	c.125A>G	p.Y42C	non-syn	rs4987046	0.00093	G=28/A=8572;G=4/A=4402;G=32/A=12974	lod=24:309	DAMAGING	B	Breast cancer ?	het	3
19	13	32893305	A	-AAC	ENST00000380152	ENSG00000139618	32889611	32973805	ENSP00000369497	BRCA2	1	BRCA2_HUMAN	c.160_162del	p.N54NA	non-syn	NA	-	-	-	-	-	-	het	1
20	13	32893305	A	-AAC	ENST00000530893	ENSG00000139618	32889611	32973805	ENSP00000435699	BRCA2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding BRCA2 13:32889611..32973805 region Gbrowse