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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 ENSG00000203667:

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
ENSG00000203667	COX20	1	22	2	ENSG00000203667	ENST00000411948	ENSP00000406327	COX20 cytochrome C oxidase assembly factor [Source:HGNC Symbol;Acc:26970]	1	244998624	245008359	1	q44	244998624	245008359	COX20	COX20-001	HGNC Symbol	HGNC transcript name	5	39.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	116228	26970	COX20	NM_198076	27511

MSeqDR Master Exome Data Set M1: 153 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	1	244998752	C	T	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	rs74441001	0.0424	-	-	-	-	-	het	2
2	1	244998752	C	T	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	rs74441001	0.0424	-	-	-	-	-	hom	1
3	1	244998862	G	A	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
4	1	244998884	T	-GGC	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	lod=35:349	-	-	-	hom	1
5	1	244998884	T	-GGC	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	lod=35:349	-	-	-	het	67
6	1	244998884	T	-GG	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	lod=35:349	-	-	-	het	1
7	1	244998942	A	-GG	ENST00000366528	ENSG00000203667	244998624	245008359	ENSP00000355486	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	1	244998942	A	-GG	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	1	244998961	C	A	ENST00000366528	ENSG00000203667	244998624	245008359	ENSP00000355486	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
10	1	244998961	C	A	ENST00000366528	ENSG00000203667	244998624	245008359	ENSP00000355486	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
11	1	244998961	C	A	ENST00000391839	ENSG00000203667	244998624	245008359	-	COX20	1	-	c.4C>A	p.L2I	non-syn	NA	-	-	-	-	-	-	het	4
12	1	244998961	C	A	ENST00000391839	ENSG00000203667	244998624	245008359	-	COX20	1	-	c.4C>A	p.L2I	non-syn	NA	-	-	-	-	-	-	hom	1
13	1	244998961	C	A	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
14	1	244998961	C	A	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
15	1	244998961	C	A	ENST00000498262	ENSG00000203667	244998624	245008359	-	COX20	1	-	c.1C>A	p.L1I	non-syn	NA	-	-	-	-	-	-	het	4
16	1	244998961	C	A	ENST00000498262	ENSG00000203667	244998624	245008359	-	COX20	1	-	c.1C>A	p.L1I	non-syn	NA	-	-	-	-	-	-	hom	1
17	1	244999067	G	A	ENST00000366528	ENSG00000203667	244998624	245008359	ENSP00000355486	COX20	1	COX20_HUMAN	-	-	+9bp 5'_splice_site	rs192100928	0.0132	A=105/G=5443;A=33/G=2677;A=138/G=8120	-	-	-	-	het	4
18	1	244999067	G	A	ENST00000391839	ENSG00000203667	244998624	245008359	-	COX20	1	-	-	-	+9bp 5'_splice_site	rs192100928	0.0132	A=105/G=5443;A=33/G=2677;A=138/G=8120	-	-	-	-	het	4
19	1	244999067	G	A	ENST00000411948	ENSG00000203667	244998624	245008359	ENSP00000406327	COX20	1	COX20_HUMAN	-	-	+9bp 5'_splice_site	rs192100928	0.0132	A=105/G=5443;A=33/G=2677;A=138/G=8120	-	-	-	-	het	4
20	1	244999067	G	A	ENST00000498262	ENSG00000203667	244998624	245008359	-	COX20	1	-	-	-	+9bp 5'_splice_site	rs192100928	0.0132	A=105/G=5443;A=33/G=2677;A=138/G=8120	-	-	-	-	het	4

** 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,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding COX20 1:244998624..245008359 region Gbrowse