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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 CTSD:

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
ENSG00000117984	CTSD	1	0	75	ENSG00000117984	ENST00000236671	ENSP00000236671	cathepsin D [Source:HGNC Symbol;Acc:2529]	11	1773982	1785222	-1	p15.5	1773982	1785222	CTSD	CTSD-001	HGNC Symbol	HGNC transcript name	6	64.35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1509	2529	CTSD	NM_001909	27504

MSeqDR Master Exome Data Set M1: 195 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	11	1773983	C	T	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	rs186126728	0.0025	-	-	-	-	-	het	1
2	11	1773997	G	C	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	11	1774019	T	C	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	11	1774019	T	C	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	11	1774039	C	T	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	11	1774039	C	T	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	11	1774136	T	G	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	rs8839	0.1675	-	-	-	-	-	het	205
8	11	1774136	T	G	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	rs8839	0.1675	-	-	-	-	-	hom	42
9	11	1774136	T	G	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	rs8839	0.1675	-	-	-	-	-	het	205
10	11	1774136	T	G	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	rs8839	0.1675	-	-	-	-	-	hom	42
11	11	1774163	G	A	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	11	1774163	G	A	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	11	1774186	C	G	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	11	1774186	C	G	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	11	1774239	G	A	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	1774239	G	A	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	11	1774330	G	A	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	rs140852332	0.0031	-	-	-	-	-	het	1
18	11	1774330	G	A	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	rs140852332	0.0031	-	-	-	-	-	het	1
19	11	1774375	G	A	ENST00000236671	ENSG00000117984	1773982	1785222	ENSP00000236671	CTSD	-1	CATD_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	11	1774375	G	A	ENST00000433655	ENSG00000117984	1773982	1785222	ENSP00000404902	CTSD	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** 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,
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Transcripts and variants in the surrounding CTSD 11:1773982..1785222 region Gbrowse