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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 GUSB:

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
ENSG00000169919	GUSB	0	0	33	ENSG00000169919	ENST00000304895	ENSP00000302728	glucuronidase, beta [Source:HGNC Symbol;Acc:4696]	7	65425671	65447301	-1	q11.21	65425671	65447301	GUSB	GUSB-001	HGNC Symbol	HGNC transcript name	15	52.03	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2990	4696	GUSB	NM_000181	27506

MSeqDR Master Exome Data Set M1: 249 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	7	65425712	T	C	ENST00000304895	ENSG00000169919	65425671	65447301	ENSP00000302728	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	het	54
2	7	65425712	T	C	ENST00000304895	ENSG00000169919	65425671	65447301	ENSP00000302728	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	hom	3
3	7	65425712	T	C	ENST00000345660	ENSG00000169919	65425671	65447301	ENSP00000340734	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	het	54
4	7	65425712	T	C	ENST00000345660	ENSG00000169919	65425671	65447301	ENSP00000340734	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	hom	3
5	7	65425712	T	C	ENST00000421103	ENSG00000169919	65425671	65447301	ENSP00000391390	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	het	54
6	7	65425712	T	C	ENST00000421103	ENSG00000169919	65425671	65447301	ENSP00000391390	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	hom	3
7	7	65425712	T	C	ENST00000430730	ENSG00000169919	65425671	65447301	ENSP00000411859	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	het	54
8	7	65425712	T	C	ENST00000430730	ENSG00000169919	65425671	65447301	ENSP00000411859	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	hom	3
9	7	65425712	T	C	ENST00000447929	ENSG00000169919	65425671	65447301	ENSP00000411262	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	het	54
10	7	65425712	T	C	ENST00000447929	ENSG00000169919	65425671	65447301	ENSP00000411262	GUSB	-1	-	-	-	3'_UTR	rs77293332	0.03	-	-	-	-	-	hom	3
11	7	65425712	T	C	ENST00000466883	ENSG00000169919	65425671	65447301	-	GUSB	-1	-	c.2518A>G	p.I840V	non-syn	rs77293332	0.03	-	-	-	-	-	het	54
12	7	65425712	T	C	ENST00000466883	ENSG00000169919	65425671	65447301	-	GUSB	-1	-	c.2518A>G	p.I840V	non-syn	rs77293332	0.03	-	-	-	-	-	hom	3
13	7	65425790	T	C	ENST00000304895	ENSG00000169919	65425671	65447301	ENSP00000302728	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	7	65425790	T	C	ENST00000345660	ENSG00000169919	65425671	65447301	ENSP00000340734	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	7	65425790	T	C	ENST00000421103	ENSG00000169919	65425671	65447301	ENSP00000391390	GUSB	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	7	65425790	T	C	ENST00000430730	ENSG00000169919	65425671	65447301	ENSP00000411859	GUSB	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
17	7	65425790	T	C	ENST00000447929	ENSG00000169919	65425671	65447301	ENSP00000411262	GUSB	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	7	65425790	T	C	ENST00000466883	ENSG00000169919	65425671	65447301	-	GUSB	-1	-	c.2440A>G	p.T814A	non-syn	NA	-	-	-	-	-	-	het	3
19	7	65425792	T	C	ENST00000304895	ENSG00000169919	65425671	65447301	ENSP00000302728	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	7	65425792	T	C	ENST00000345660	ENSG00000169919	65425671	65447301	ENSP00000340734	GUSB	-1	BGLR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding GUSB 7:65425671..65447301 region Gbrowse