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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 CYP11B1:

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
ENSG00000160882	CYP11B1	1	0	0	ENSG00000160882	ENST00000314111		cytochrome P450, family 11, subfamily B, polypeptide 1 [Source:HGNC Symbol;Acc:2591]	8	143953772	143961262	-1	q24.3	143953772	143961262	CYP11B1	CYP11B1-004	HGNC Symbol	HGNC transcript name	5	58.36	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1584	2591	CYP11B1		27523

MSeqDR Master Exome Data Set M1: 354 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	8	143953918	A	T	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3580T>A	p.C1194S	non-syn	rs61752818	0.0312	-	-	-	-	-	het	1
2	8	143953918	A	T	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs61752818	0.0312	-	-	-	-	-	het	1
3	8	143953937	A	C	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3561T>G	p.Y1187*	non-syn	rs4736312	0.7489	-	-	-	-	-	hom	256
4	8	143953937	A	C	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3561T>G	p.Y1187*	non-syn	rs4736312	0.7489	-	-	-	-	-	het	306
5	8	143953937	A	C	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs4736312	0.7489	-	-	-	-	-	hom	256
6	8	143953937	A	C	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs4736312	0.7489	-	-	-	-	-	het	306
7	8	143954223	C	A	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3275G>T	p.R1092L	non-syn	rs1134096	0.7551	-	-	-	-	-	het	304
8	8	143954223	C	A	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3275G>T	p.R1092L	non-syn	rs1134096	0.7551	-	-	-	-	-	hom	256
9	8	143954223	C	A	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs1134096	0.7551	-	-	-	-	-	het	304
10	8	143954223	C	A	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs1134096	0.7551	-	-	-	-	-	hom	256
11	8	143954277	C	T	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3221G>A	p.R1074H	non-syn	rs61752814	0.0087	-	-	-	-	-	het	1
12	8	143954277	C	T	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs61752814	0.0087	-	-	-	-	-	het	1
13	8	143954290	G	A	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3208C>T	p.L1070F	non-syn	rs1134095	0.7325	-	-	-	-	-	het	298
14	8	143954290	G	A	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3208C>T	p.L1070F	non-syn	rs1134095	0.7325	-	-	-	-	-	hom	256
15	8	143954290	G	A	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs1134095	0.7325	-	-	-	-	-	het	298
16	8	143954290	G	A	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	rs1134095	0.7325	-	-	-	-	-	hom	256
17	8	143954354	A	G	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3144T>C	p.H1048H	syn	NA	-	-	-	-	-	-	het	1
18	8	143954354	A	G	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	8	143954363	G	A	ENST00000314111	ENSG00000160882	143953772	143961262	-	CYP11B1	-1	-	c.3135C>T	p.L1045L	syn	NA	-	-	-	-	-	-	het	1
20	8	143954363	G	A	ENST00000519285	ENSG00000160882	143953772	143961262	ENSP00000430144	CYP11B1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding CYP11B1 8:143953772..143961262 region Gbrowse