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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 CYP2C9:

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
ENSG00000138109	CYP2C9	0	0	9	ENSG00000138109	ENST00000461906		cytochrome P450, family 2, subfamily C, polypeptide 9 [Source:HGNC Symbol;Acc:2623]	10	96698415	96749147	1	q23.33	96698415	96703023	CYP2C9	CYP2C9-002	HGNC Symbol	HGNC transcript name	3	37.78	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1559	2623	CYP2C9		27525

MSeqDR Master Exome Data Set M1: 74 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	10	96698447	C	A	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	c.8C>A	p.S3Y	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
2	10	96698447	C	A	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	c.33C>A	p.F11L	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
3	10	96698453	T	C	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	c.14T>C	p.V5A	non-syn	rs138957855	0.00092	C=5/T=8595;C=1/T=4405;C=6/T=13000	-	DAMAGING	NA	-	het	2
4	10	96698453	T	C	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	c.39T>C	p.C13C	syn	rs138957855	0.00092	C=5/T=8595;C=1/T=4405;C=6/T=13000	-	DAMAGING	NA	-	het	2
5	10	96701601	G	C	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	-	-	-14bp 3'_splice_site	rs9332119	0.11957	C=1147/G=7453;C=120/G=4286;C=1267/G=11739	-	-	-	-	het	227
6	10	96701601	G	C	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	-	-	-14bp 3'_splice_site	rs9332119	0.11957	C=1147/G=7453;C=120/G=4286;C=1267/G=11739	-	-	-	-	hom	22
7	10	96701601	G	C	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-14bp 3'_splice_site	rs9332119	0.11957	C=1147/G=7453;C=120/G=4286;C=1267/G=11739	-	-	-	-	het	227
8	10	96701601	G	C	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-14bp 3'_splice_site	rs9332119	0.11957	C=1147/G=7453;C=120/G=4286;C=1267/G=11739	-	-	-	-	hom	22
9	10	96701938	C	T	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	-	-	-11bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
10	10	96701938	C	T	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-11bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
11	10	96701938	C	T	ENST00000473496	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-11bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
12	10	96701939	T	A	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	het	8
13	10	96701939	T	A	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	hom	1
14	10	96701939	T	A	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	het	8
15	10	96701939	T	A	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	hom	1
16	10	96701939	T	A	ENST00000473496	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	het	8
17	10	96701939	T	A	ENST00000473496	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	-	-	-10bp 3'_splice_site	rs9332121	0.1092	A=3/T=8597;A=587/T=3819;A=590/T=12416	-	-	-	-	hom	1
18	10	96701953	T	C	ENST00000260682	ENSG00000138109	96698415	96749147	ENSP00000260682	CYP2C9	1	CP2C9_HUMAN	c.336T>C	p.I112I	syn	rs201856860	-	-	-	-	-	-	het	4
19	10	96701953	T	C	ENST00000461906	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	c.361T>C	p.C121R	non-syn	rs201856860	-	-	-	-	-	-	het	4
20	10	96701953	T	C	ENST00000473496	ENSG00000138109	96698415	96749147	-	CYP2C9	1	-	c.107T>C	p.L36S	non-syn	rs201856860	-	-	-	-	-	-	het	4

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Transcripts and variants in the surrounding CYP2C9 10:96698415..96749147 region Gbrowse