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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 GBA:

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
ENSG00000177628	GBA	0	0	79	ENSG00000177628	ENST00000327247	ENSP00000314508	glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]	1	155204243	155214490	-1	q22	155204243	155214461	GBA	GBA-002	HGNC Symbol	HGNC transcript name	15	51.52	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2629	4177	GBA	NM_001005742	27511
ENSG00000262446	GBA	0	0	79	ENSG00000262446	ENST00000572338	ENSP00000459642	glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]	HSCHR1_2_CTG31	155219647	155229865	-1	q22	155219647	155226429	GBA	GBA-001	HGNC Symbol	HGNC transcript name	14	51.48	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	2629	4177	GBA		1000057045

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MSeqDR Master Exome Data Set M1: 188 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	1	155204621	A	G	ENST00000327247	ENSG00000177628	155204243	155214490	ENSP00000314508	GBA	-1	GLCM_HUMAN	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	het	18
2	1	155204621	A	G	ENST00000327247	ENSG00000177628	155204243	155214490	ENSP00000314508	GBA	-1	GLCM_HUMAN	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	hom	1
3	1	155204621	A	G	ENST00000368373	ENSG00000177628	155204243	155214490	ENSP00000357357	GBA	-1	GLCM_HUMAN	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	het	18
4	1	155204621	A	G	ENST00000368373	ENSG00000177628	155204243	155214490	ENSP00000357357	GBA	-1	GLCM_HUMAN	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	hom	1
5	1	155204621	A	G	ENST00000427500	ENSG00000177628	155204243	155214490	ENSP00000402577	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	het	18
6	1	155204621	A	G	ENST00000427500	ENSG00000177628	155204243	155214490	ENSP00000402577	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	hom	1
7	1	155204621	A	G	ENST00000428024	ENSG00000177628	155204243	155214490	ENSP00000397986	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	het	18
8	1	155204621	A	G	ENST00000428024	ENSG00000177628	155204243	155214490	ENSP00000397986	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	hom	1
9	1	155204621	A	G	ENST00000464536	ENSG00000177628	155204243	155214490	-	GBA	-1	-	-	-	-9bp 3'_splice_site	rs1057944	-	-	-	-	-	-	het	18
10	1	155204621	A	G	ENST00000464536	ENSG00000177628	155204243	155214490	-	GBA	-1	-	-	-	-9bp 3'_splice_site	rs1057944	-	-	-	-	-	-	hom	1
11	1	155204621	A	G	ENST00000536770	ENSG00000177628	155204243	155214490	ENSP00000445560	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	het	18
12	1	155204621	A	G	ENST00000536770	ENSG00000177628	155204243	155214490	ENSP00000445560	GBA	-1	-	-	-	3'_UTR	rs1057944	-	-	-	-	-	-	hom	1
13	1	155204997	G	A	ENST00000327247	ENSG00000177628	155204243	155214490	ENSP00000314508	GBA	-1	GLCM_HUMAN	c.1494C>T	p.V498V	syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
14	1	155204997	G	A	ENST00000368373	ENSG00000177628	155204243	155214490	ENSP00000357357	GBA	-1	GLCM_HUMAN	c.1494C>T	p.V498V	syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
15	1	155204997	G	A	ENST00000427500	ENSG00000177628	155204243	155214490	ENSP00000402577	GBA	-1	-	c.1347C>T	p.V449V	syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
16	1	155204997	G	A	ENST00000428024	ENSG00000177628	155204243	155214490	ENSP00000397986	GBA	-1	-	c.1233C>T	p.V411V	syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
17	1	155204997	G	A	ENST00000478472	ENSG00000177628	155204243	155214490	-	GBA	-1	-	c.854C>T	p.S285L	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
18	1	155204997	G	A	ENST00000484489	ENSG00000177628	155204243	155214490	-	GBA	-1	-	c.653C>T	p.S218L	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
19	1	155204997	G	A	ENST00000536770	ENSG00000177628	155204243	155214490	ENSP00000445560	GBA	-1	-	c.1155C>T	p.V385V	syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=82:440	-	-	-	het	3
20	1	155205008	C	G	ENST00000327247	ENSG00000177628	155204243	155214490	ENSP00000314508	GBA	-1	GLCM_HUMAN	c.1483G>C	p.A495P	non-syn	rs368060	-	-	lod=46:378	TOLERATED	B	Gaucher disease	het	3

** 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**,
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Transcripts and variants in the surrounding GBA 1:155204243..155214490 region Gbrowse