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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 GBE1:

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
ENSG00000114480	GBE1	0	0	23	ENSG00000114480	ENST00000429644	ENSP00000410833	glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]	3	81538850	81811312	-1	p12.2	81538850	81811312	GBE1	GBE1-001	HGNC Symbol	HGNC transcript name	6	35.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2632	4180	GBE1	NM_000158	27517

MSeqDR Master Exome Data Set M1: 141 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	3	81539064	T	A	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs145934828	0.0131	-	-	-	-	-	hom	1
2	3	81539064	T	A	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs145934828	0.0131	-	-	-	-	-	het	3
3	3	81539125	G	C	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	3	81539125	G	C	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	3	81539382	C	T	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs846	0.4287	-	-	-	-	-	het	354
6	3	81539382	C	T	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs846	0.4287	-	-	-	-	-	hom	194
7	3	81539382	C	T	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	-	-	3'_UTR	rs846	0.4287	-	-	-	-	-	het	354
8	3	81539382	C	T	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	-	-	3'_UTR	rs846	0.4287	-	-	-	-	-	hom	194
9	3	81539406	G	T	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs9820089	0.0748	-	-	-	-	-	het	53
10	3	81539406	G	T	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	-	-	3'_UTR	rs9820089	0.0748	-	-	-	-	-	hom	3
11	3	81539406	G	T	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	-	-	3'_UTR	rs9820089	0.0748	-	-	-	-	-	het	53
12	3	81539406	G	T	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	-	-	3'_UTR	rs9820089	0.0748	-	-	-	-	-	hom	3
13	3	81548278	G	A	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	c.2035C>T	p.R679C	non-syn	rs202158511	-	-	lod=15:259	DAMAGING	-	-	het	1
14	3	81548278	G	A	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	c.1912C>T	p.R638C	non-syn	rs202158511	-	-	lod=15:259	DAMAGING	-	-	het	1
15	3	81548296	C	T	ENST00000429644	ENSG00000114480	81538850	81811312	ENSP00000410833	GBE1	-1	GLGB_HUMAN	c.2017G>A	p.A673T	non-syn	rs193074572	0.00556	T=54/C=8128;T=6/C=3662;T=60/C=11790	-	TOLERATED	-	-	het	9
16	3	81548296	C	T	ENST00000489715	ENSG00000114480	81538850	81811312	ENSP00000419638	GBE1	-1	-	c.1894G>A	p.A632T	non-syn	rs193074572	0.00556	T=54/C=8128;T=6/C=3662;T=60/C=11790	-	TOLERATED	-	-	het	9
17	3	81584268	C	-T	ENST00000484687	ENSG00000114480	81538850	81811312	-	GBE1	-1	-	c.412_412del	p.R138NA	non-syn	rs60133692	-	-	-	-	-	-	hom	1
18	3	81584268	C	-T	ENST00000484687	ENSG00000114480	81538850	81811312	-	GBE1	-1	-	c.412_412del	p.R138NA	non-syn	rs60133692	-	-	-	-	-	-	het	395
19	3	81584268	C	-TT	ENST00000484687	ENSG00000114480	81538850	81811312	-	GBE1	-1	-	c.411_412del	p.R138NA	non-syn	NA	-	-	-	-	-	-	het	191
20	3	81584282	T	-G	ENST00000484687	ENSG00000114480	81538850	81811312	-	GBE1	-1	-	c.398_398del	p.T133NA	non-syn	NA	-	-	-	-	-	-	het	5

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GBE1 3:81538850..81811312 region Gbrowse