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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 CYP11A1:

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
ENSG00000140459	CYP11A1	1	0	6	ENSG00000140459	ENST00000358632	ENSP00000351455	cytochrome P450, family 11, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2590]	15	74630100	74660081	-1	q24.1	74630100	74658547	CYP11A1	CYP11A1-002	HGNC Symbol	HGNC transcript name	12	47.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1583	2590	CYP11A1	NM_001099773	27521

MSeqDR Master Exome Data Set M1: 109 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	15	74630830	C	T	ENST00000498141	ENSG00000140459	74630100	74660081	-	CYP11A1	-1	-	c.359G>A	p.C120Y	non-syn	rs185821614	0.00383	-	-	-	-	-	het	5
2	15	74630949	C	T	ENST00000268053	ENSG00000140459	74630100	74660081	ENSP00000268053	CYP11A1	-1	CP11A_HUMAN	c.1397G>A	p.R466Q	non-syn	NA	-	-	lod=70:423	DAMAGING	D	-	het	1
3	15	74630949	C	T	ENST00000358632	ENSG00000140459	74630100	74660081	ENSP00000351455	CYP11A1	-1	CP11A_HUMAN	c.923G>A	p.R308Q	non-syn	NA	-	-	lod=70:423	DAMAGING	D	-	het	1
4	15	74630949	C	T	ENST00000419019	ENSG00000140459	74630100	74660081	ENSP00000405488	CYP11A1	-1	CP11A_HUMAN	c.923G>A	p.R308Q	non-syn	NA	-	-	lod=70:423	DAMAGING	D	-	het	1
5	15	74630949	C	T	ENST00000435365	ENSG00000140459	74630100	74660081	ENSP00000391081	CYP11A1	-1	-	-	-	3'_UTR	NA	-	-	lod=70:423	DAMAGING	D	-	het	1
6	15	74630949	C	T	ENST00000498141	ENSG00000140459	74630100	74660081	-	CYP11A1	-1	-	c.240G>A	p.A80A	syn	NA	-	-	lod=70:423	DAMAGING	D	-	het	1
7	15	74630951	C	T	ENST00000268053	ENSG00000140459	74630100	74660081	ENSP00000268053	CYP11A1	-1	CP11A_HUMAN	c.1395G>A	p.R465R	syn	NA	-	T=2/C=8592;T=0/C=4396;T=2/C=12988	lod=70:423	-	-	-	het	1
8	15	74630951	C	T	ENST00000358632	ENSG00000140459	74630100	74660081	ENSP00000351455	CYP11A1	-1	CP11A_HUMAN	c.921G>A	p.R307R	syn	NA	-	T=2/C=8592;T=0/C=4396;T=2/C=12988	lod=70:423	-	-	-	het	1
9	15	74630951	C	T	ENST00000419019	ENSG00000140459	74630100	74660081	ENSP00000405488	CYP11A1	-1	CP11A_HUMAN	c.921G>A	p.R307R	syn	NA	-	T=2/C=8592;T=0/C=4396;T=2/C=12988	lod=70:423	-	-	-	het	1
10	15	74630951	C	T	ENST00000435365	ENSG00000140459	74630100	74660081	ENSP00000391081	CYP11A1	-1	-	-	-	3'_UTR	NA	-	T=2/C=8592;T=0/C=4396;T=2/C=12988	lod=70:423	-	-	-	het	1
11	15	74630951	C	T	ENST00000498141	ENSG00000140459	74630100	74660081	-	CYP11A1	-1	-	c.238G>A	p.A80T	non-syn	NA	-	T=2/C=8592;T=0/C=4396;T=2/C=12988	lod=70:423	-	-	-	het	1
12	15	74630995	G	A	ENST00000268053	ENSG00000140459	74630100	74660081	ENSP00000268053	CYP11A1	-1	CP11A_HUMAN	c.1351C>T	p.R451W	non-syn	NA	-	-	lod=152:506	DAMAGING	D	-	het	1
13	15	74630995	G	A	ENST00000358632	ENSG00000140459	74630100	74660081	ENSP00000351455	CYP11A1	-1	CP11A_HUMAN	c.877C>T	p.R293W	non-syn	NA	-	-	lod=152:506	DAMAGING	D	-	het	1
14	15	74630995	G	A	ENST00000419019	ENSG00000140459	74630100	74660081	ENSP00000405488	CYP11A1	-1	CP11A_HUMAN	c.877C>T	p.R293W	non-syn	NA	-	-	lod=152:506	DAMAGING	D	-	het	1
15	15	74630995	G	A	ENST00000435365	ENSG00000140459	74630100	74660081	ENSP00000391081	CYP11A1	-1	-	-	-	3'_UTR	NA	-	-	lod=152:506	DAMAGING	D	-	het	1
16	15	74630995	G	A	ENST00000498141	ENSG00000140459	74630100	74660081	-	CYP11A1	-1	-	c.194C>T	p.P65L	non-syn	NA	-	-	lod=152:506	DAMAGING	D	-	het	1
17	15	74631125	C	G	ENST00000268053	ENSG00000140459	74630100	74660081	ENSP00000268053	CYP11A1	-1	CP11A_HUMAN	-	-	-16bp 3'_splice_site	rs189901407	0.00397	G=18/C=8576;G=0/C=4394;G=18/C=12970	-	-	-	-	het	1
18	15	74631125	C	G	ENST00000358632	ENSG00000140459	74630100	74660081	ENSP00000351455	CYP11A1	-1	CP11A_HUMAN	-	-	-16bp 3'_splice_site	rs189901407	0.00397	G=18/C=8576;G=0/C=4394;G=18/C=12970	-	-	-	-	het	1
19	15	74631125	C	G	ENST00000419019	ENSG00000140459	74630100	74660081	ENSP00000405488	CYP11A1	-1	CP11A_HUMAN	-	-	-16bp 3'_splice_site	rs189901407	0.00397	G=18/C=8576;G=0/C=4394;G=18/C=12970	-	-	-	-	het	1
20	15	74631125	C	G	ENST00000435365	ENSG00000140459	74630100	74660081	ENSP00000391081	CYP11A1	-1	-	-	-	-16bp 3'_splice_site	rs189901407	0.00397	G=18/C=8576;G=0/C=4394;G=18/C=12970	-	-	-	-	het	1

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Transcripts and variants in the surrounding CYP11A1 15:74630100..74660081 region Gbrowse