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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 CTNS:

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
ENSG00000040531	CTNS	1	0	30	ENSG00000040531	ENST00000046640	ENSP00000046640	cystinosin, lysosomal cystine transporter [Source:HGNC Symbol;Acc:2518]	17	3539762	3564836	1	p13.2	3539762	3564832	CTNS	CTNS-001	HGNC Symbol	HGNC transcript name	12	54.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1497	2518	CTNS	NM_004937	27509

MSeqDR Master Exome Data Set M1: 247 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	17	3539835	T	C	ENST00000046640	ENSG00000040531	3539762	3564836	ENSP00000046640	CTNS	1	CTNS_HUMAN	-	-	5'_UTR	rs111977802	0.0698	-	-	-	-	-	hom	1
2	17	3539835	T	C	ENST00000381870	ENSG00000040531	3539762	3564836	ENSP00000371294	CTNS	1	CTNS_HUMAN	-	-	5'_UTR	rs111977802	0.0698	-	-	-	-	-	hom	1
3	17	3550784	C	T	ENST00000046640	ENSG00000040531	3539762	3564836	ENSP00000046640	CTNS	1	CTNS_HUMAN	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
4	17	3550784	C	T	ENST00000381870	ENSG00000040531	3539762	3564836	ENSP00000371294	CTNS	1	CTNS_HUMAN	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
5	17	3550784	C	T	ENST00000399306	ENSG00000040531	3539762	3564836	ENSP00000382245	CTNS	1	-	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
6	17	3550784	C	T	ENST00000452111	ENSG00000040531	3539762	3564836	ENSP00000408652	CTNS	1	-	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
7	17	3550784	C	T	ENST00000467663	ENSG00000040531	3539762	3564836	ENSP00000461056	CTNS	1	-	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
8	17	3550784	C	T	ENST00000488623	ENSG00000040531	3539762	3564836	-	CTNS	1	-	c.329C>T	p.T110M	non-syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
9	17	3550784	C	T	ENST00000495445	ENSG00000040531	3539762	3564836	-	CTNS	1	-	c.422C>T	p.T141M	non-syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
10	17	3550784	C	T	ENST00000576979	ENSG00000040531	3539762	3564836	ENSP00000458457	CTNS	1	-	c.108C>T	p.N36N	syn	rs117404824	0.0091	T=61/C=8539;T=4/C=4402;T=65/C=12941	lod=56:399	-	-	-	het	2
11	17	3550792	C	T	ENST00000046640	ENSG00000040531	3539762	3564836	ENSP00000046640	CTNS	1	CTNS_HUMAN	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
12	17	3550792	C	T	ENST00000381870	ENSG00000040531	3539762	3564836	ENSP00000371294	CTNS	1	CTNS_HUMAN	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
13	17	3550792	C	T	ENST00000399306	ENSG00000040531	3539762	3564836	ENSP00000382245	CTNS	1	-	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
14	17	3550792	C	T	ENST00000452111	ENSG00000040531	3539762	3564836	ENSP00000408652	CTNS	1	-	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
15	17	3550792	C	T	ENST00000467663	ENSG00000040531	3539762	3564836	ENSP00000461056	CTNS	1	-	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
16	17	3550792	C	T	ENST00000488623	ENSG00000040531	3539762	3564836	-	CTNS	1	-	c.337C>T	p.R113*	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
17	17	3550792	C	T	ENST00000495445	ENSG00000040531	3539762	3564836	-	CTNS	1	-	c.430C>T	p.R144*	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
18	17	3550792	C	T	ENST00000576979	ENSG00000040531	3539762	3564836	ENSP00000458457	CTNS	1	-	c.116C>T	p.S39L	non-syn	rs144751390	0.0027	T=28/C=8572;T=2/C=4404;T=30/C=12976	lod=56:399	DAMAGING	B	-	het	5
19	17	3550799	C	T	ENST00000046640	ENSG00000040531	3539762	3564836	ENSP00000046640	CTNS	1	CTNS_HUMAN	c.123C>T	p.N41N	syn	rs148084080	-	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=56:399	-	-	-	het	1
20	17	3550799	C	T	ENST00000381870	ENSG00000040531	3539762	3564836	ENSP00000371294	CTNS	1	CTNS_HUMAN	c.123C>T	p.N41N	syn	rs148084080	-	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=56:399	-	-	-	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CTNS 17:3539762..3564836 region Gbrowse