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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 CYP27B1:

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
ENSG00000111012	CYP27B1	1	0	14	ENSG00000111012	ENST00000547344		cytochrome P450, family 27, subfamily B, polypeptide 1 [Source:HGNC Symbol;Acc:2606]	12	58156117	58162769	-1	q14.1	58156117	58160878	CYP27B1	CYP27B1-002	HGNC Symbol	HGNC transcript name	7	53.92	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1594	2606	CYP27B1		27519

MSeqDR Master Exome Data Set M1: 47 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	12	58156782	C	T	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	12	58156782	C	T	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1809G>A	p.A603A	syn	NA	-	-	-	-	-	-	het	1
3	12	58156848	C	T	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	-	-	3'_UTR	rs8176350	0.0018	-	-	-	-	-	het	4
4	12	58156848	C	T	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1743G>A	p.R581R	syn	rs8176350	0.0018	-	-	-	-	-	het	4
5	12	58157444	A	T	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	c.1363T>A	p.C455S	non-syn	NA	-	-	lod=283:573	DAMAGING	D	-	het	1
6	12	58157444	A	T	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1502T>A	p.L501Q	non-syn	NA	-	-	lod=283:573	DAMAGING	D	-	het	1
7	12	58158240	G	C	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	c.1057C>G	p.P353A	non-syn	rs151335249	-	C=3/G=8597;C=0/G=4406;C=3/G=13003	-	TOLERATED	P	-	het	4
8	12	58158240	G	C	ENST00000546567	ENSG00000111012	58156117	58162769	ENSP00000449472	CYP27B1	-1	-	c.352C>G	p.P118A	non-syn	rs151335249	-	C=3/G=8597;C=0/G=4406;C=3/G=13003	-	TOLERATED	P	-	het	4
9	12	58158240	G	C	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1196C>G	p.P399R	non-syn	rs151335249	-	C=3/G=8597;C=0/G=4406;C=3/G=13003	-	TOLERATED	P	-	het	4
10	12	58158380	G	T	ENST00000547451	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.920C>A	p.A307D	non-syn	NA	-	-	-	-	-	-	het	2
11	12	58158480	G	A	ENST00000547451	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.820C>T	p.R274W	non-syn	NA	-	-	-	-	-	-	het	1
12	12	58158546	T	C	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	c.954A>G	p.G318G	syn	NA	-	-	lod=123:483	-	-	-	het	1
13	12	58158546	T	C	ENST00000546567	ENSG00000111012	58156117	58162769	ENSP00000449472	CYP27B1	-1	-	c.249A>G	p.G83G	syn	NA	-	-	lod=123:483	-	-	-	het	1
14	12	58158546	T	C	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1093A>G	p.S365G	non-syn	NA	-	-	lod=123:483	-	-	-	het	1
15	12	58158546	T	C	ENST00000547451	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.754A>G	p.S252G	non-syn	NA	-	-	lod=123:483	-	-	-	het	1
16	12	58158558	C	T	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	c.942G>A	p.L314L	syn	rs8176345	0.0412	T=308/C=8292;T=22/C=4384;T=330/C=12676	lod=127:487	-	-	-	hom	4
17	12	58158558	C	T	ENST00000228606	ENSG00000111012	58156117	58162769	ENSP00000228606	CYP27B1	-1	CP27B_HUMAN	c.942G>A	p.L314L	syn	rs8176345	0.0412	T=308/C=8292;T=22/C=4384;T=330/C=12676	lod=127:487	-	-	-	het	75
18	12	58158558	C	T	ENST00000546567	ENSG00000111012	58156117	58162769	ENSP00000449472	CYP27B1	-1	-	c.237G>A	p.L79L	syn	rs8176345	0.0412	T=308/C=8292;T=22/C=4384;T=330/C=12676	lod=127:487	-	-	-	hom	4
19	12	58158558	C	T	ENST00000546567	ENSG00000111012	58156117	58162769	ENSP00000449472	CYP27B1	-1	-	c.237G>A	p.L79L	syn	rs8176345	0.0412	T=308/C=8292;T=22/C=4384;T=330/C=12676	lod=127:487	-	-	-	het	75
20	12	58158558	C	T	ENST00000547344	ENSG00000111012	58156117	58162769	-	CYP27B1	-1	-	c.1081G>A	p.A361T	non-syn	rs8176345	0.0412	T=308/C=8292;T=22/C=4384;T=330/C=12676	lod=127:487	-	-	-	hom	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.

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Transcripts and variants in the surrounding CYP27B1 12:58156117..58162769 region Gbrowse