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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 CEP164:

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
ENSG00000110274	CEP164	0	0	7	ENSG00000110274	ENST00000525734	ENSP00000436609	centrosomal protein 164kDa [Source:HGNC Symbol;Acc:29182]	11	117185273	117283984	1	q23.3	117185273	117222658	CEP164	CEP164-012	HGNC Symbol	HGNC transcript name	13	47.98	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	22897	29182	CEP164		27504

MSeqDR Master Exome Data Set M1: 384 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	117198789	A	T	ENST00000525416	ENSG00000110274	117185273	117283984	ENSP00000435759	CEP164	1	-	-	-	5'_UTR	rs2508665	0.2274	-	-	-	-	-	hom	1
2	11	117209268	C	T	ENST00000278935	ENSG00000110274	117185273	117283984	ENSP00000278935	CEP164	1	CE164_HUMAN	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	het	364
3	11	117209268	C	T	ENST00000278935	ENSG00000110274	117185273	117283984	ENSP00000278935	CEP164	1	CE164_HUMAN	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	hom	52
4	11	117209268	C	T	ENST00000525734	ENSG00000110274	117185273	117283984	ENSP00000436609	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	het	364
5	11	117209268	C	T	ENST00000525734	ENSG00000110274	117185273	117283984	ENSP00000436609	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	hom	52
6	11	117209268	C	T	ENST00000527609	ENSG00000110274	117185273	117283984	ENSP00000436351	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	het	364
7	11	117209268	C	T	ENST00000527609	ENSG00000110274	117185273	117283984	ENSP00000436351	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	hom	52
8	11	117209268	C	T	ENST00000533570	ENSG00000110274	117185273	117283984	ENSP00000431302	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	het	364
9	11	117209268	C	T	ENST00000533570	ENSG00000110274	117185273	117283984	ENSP00000431302	CEP164	1	-	-	-	-14bp 3'_splice_site	rs573801	0.1907	T=1901/C=6691;T=1224/C=3178;T=3125/C=9869	-	-	-	-	hom	52
10	11	117222592	G	A	ENST00000278935	ENSG00000110274	117185273	117283984	ENSP00000278935	CEP164	1	CE164_HUMAN	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50
11	11	117222592	G	A	ENST00000278935	ENSG00000110274	117185273	117283984	ENSP00000278935	CEP164	1	CE164_HUMAN	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	het	317
12	11	117222592	G	A	ENST00000525416	ENSG00000110274	117185273	117283984	ENSP00000435759	CEP164	1	-	c.143G>A	p.S48N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50
13	11	117222592	G	A	ENST00000525416	ENSG00000110274	117185273	117283984	ENSP00000435759	CEP164	1	-	c.143G>A	p.S48N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	het	317
14	11	117222592	G	A	ENST00000525734	ENSG00000110274	117185273	117283984	ENSP00000436609	CEP164	1	-	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50
15	11	117222592	G	A	ENST00000525734	ENSG00000110274	117185273	117283984	ENSP00000436609	CEP164	1	-	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	het	317
16	11	117222592	G	A	ENST00000527609	ENSG00000110274	117185273	117283984	ENSP00000436351	CEP164	1	-	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50
17	11	117222592	G	A	ENST00000527609	ENSG00000110274	117185273	117283984	ENSP00000436351	CEP164	1	-	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	het	317
18	11	117222592	G	A	ENST00000533153	ENSG00000110274	117185273	117283984	ENSP00000436034	CEP164	1	-	c.143G>A	p.S48N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50
19	11	117222592	G	A	ENST00000533153	ENSG00000110274	117185273	117283984	ENSP00000436034	CEP164	1	-	c.143G>A	p.S48N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	het	317
20	11	117222592	G	A	ENST00000533570	ENSG00000110274	117185273	117283984	ENSP00000431302	CEP164	1	-	c.281G>A	p.S94N	non-syn	rs490262	0.18786	A=1718/G=6874;A=1211/G=3191;A=2929/G=10065	lod=174:521	TOLERATED	B	-	hom	50

** 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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Transcripts and variants in the surrounding CEP164 11:117185273..117283984 region Gbrowse