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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 CTC1:

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
ENSG00000178971	CTC1	0	0	22	ENSG00000178971	ENST00000449476	ENSP00000396018	CTS telomere maintenance complex component 1 [Source:HGNC Symbol;Acc:26169]	17	8130191	8151362	-1	p13.1	8130191	8151360	CTC1	CTC1-002	HGNC Symbol	HGNC transcript name	13	48.75	protein_coding	nonsense_mediated_decay	ensembl_hava	ensembl_hava	KNOWN	KNOWN	80169	26169	CTC1		27509

MSeqDR Master Exome Data Set M1: 208 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	8130867	A	C	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027247	0.4238	-	-	-	-	HGMD	hom	1
2	17	8131223	C	T	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027246	0.19619	-	-	-	-	-	het	2
3	17	8131223	C	T	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027246	0.19619	-	-	-	-	-	hom	1
4	17	8131223	C	T	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027246	0.19619	-	-	-	-	-	het	2
5	17	8131223	C	T	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027246	0.19619	-	-	-	-	-	hom	1
6	17	8131455	G	A	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	het	36
7	17	8131455	G	A	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	hom	1
8	17	8131455	G	A	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	het	36
9	17	8131455	G	A	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	hom	1
10	17	8131455	G	A	ENST00000581729	ENSG00000178971	8130191	8151362	ENSP00000462720	CTC1	-1	-	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	het	36
11	17	8131455	G	A	ENST00000581729	ENSG00000178971	8130191	8151362	ENSP00000462720	CTC1	-1	-	-	-	3'_UTR	rs3027245	0.01213	A=149/G=8223;A=13/G=4019;A=162/G=12242	-	-	-	-	hom	1
12	17	8131476	T	C	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	17	8131476	T	C	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	17	8131476	T	C	ENST00000581729	ENSG00000178971	8130191	8151362	ENSP00000462720	CTC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	17	8131561	G	C	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	c.3591C>G	p.S1197S	syn	rs115990839	0.0214	C=0/G=8474;C=131/G=4047;C=131/G=12521	-	-	-	-	het	1
16	17	8131561	G	C	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	rs115990839	0.0214	C=0/G=8474;C=131/G=4047;C=131/G=12521	-	-	-	-	het	1
17	17	8131561	G	C	ENST00000581729	ENSG00000178971	8130191	8151362	ENSP00000462720	CTC1	-1	-	c.308C>G	p.P103R	non-syn	rs115990839	0.0214	C=0/G=8474;C=131/G=4047;C=131/G=12521	-	-	-	-	het	1
18	17	8131840	C	T	ENST00000315684	ENSG00000178971	8130191	8151362	ENSP00000313759	CTC1	-1	CTC1_HUMAN	c.3495G>A	p.P1165P	syn	NA	-	-	lod=51:389	-	-	-	het	1
19	17	8131840	C	T	ENST00000449476	ENSG00000178971	8130191	8151362	ENSP00000396018	CTC1	-1	CTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=51:389	-	-	-	het	1
20	17	8131840	C	T	ENST00000581729	ENSG00000178971	8130191	8151362	ENSP00000462720	CTC1	-1	-	c.212G>A	p.R71H	non-syn	NA	-	-	lod=51:389	-	-	-	het	1

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Transcripts and variants in the surrounding CTC1 17:8130191..8151362 region Gbrowse