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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 PRKCH:

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
ENSG00000027075	PRKCH	0	0	1	ENSG00000027075	ENST00000556164	ENSP00000452330	protein kinase C, eta [Source:HGNC Symbol;Acc:9403]	14	61654277	62017694	1	q23.1	61827792	61915965	PRKCH	PRKCH-022	HGNC Symbol	HGNC transcript name	27	42.48	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5583	9403	PRKCH		27520

MSeqDR Master Exome Data Set M1: 158 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	14	61748007	C	T	ENST00000554835	ENSG00000027075	61654277	62017694	-	PRKCH	1	-	c.106C>T	p.L36F	non-syn	rs73310579	0.0738	-	-	-	-	-	het	3
2	14	61748007	C	T	ENST00000555542	ENSG00000027075	61654277	62017694	ENSP00000451789	PRKCH	1	-	-	-	5'_UTR	rs73310579	0.0738	-	-	-	-	-	het	3
3	14	61788544	G	A	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	14	61788546	C	T	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
5	14	61788596	C	A	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs11622327	0.0102	-	-	-	-	-	het	5
6	14	61788630	G	A	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs114416617	0.0471	-	lod=68:420	-	-	-	het	23
7	14	61788636	A	G	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs145795985	0.026	-	-	-	-	-	hom	1
8	14	61788636	A	G	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs145795985	0.026	-	-	-	-	-	het	20
9	14	61788737	C	G	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs1951964	0.0482	-	-	-	-	-	het	7
10	14	61788737	C	G	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	-	-	5'_UTR	rs1951964	0.0482	-	-	-	-	-	het	7
11	14	61788816	C	T	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	-	-	5'_UTR	rs45582331	0.0422	T=279/C=8227;T=38/C=4310;T=317/C=12537	lod=268:567	-	-	-	het	38
12	14	61788816	C	T	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	-	-	5'_UTR	rs45582331	0.0422	T=279/C=8227;T=38/C=4310;T=317/C=12537	lod=268:567	-	-	-	het	38
13	14	61788875	C	T	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	c.56C>T	p.A19V	non-syn	rs55645551	-	T=32/C=8562;T=1/C=4405;T=33/C=12967	lod=268:567	TOLERATED	D	-	het	2
14	14	61788875	C	T	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	c.56C>T	p.A19V	non-syn	rs55645551	-	T=32/C=8562;T=1/C=4405;T=33/C=12967	lod=268:567	TOLERATED	D	-	het	2
15	14	61788973	G	A	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	c.154G>A	p.V52M	non-syn	rs148375974	-	A=4/G=8596;A=0/G=4406;A=4/G=13002	lod=1196:727	TOLERATED	B	-	het	2
16	14	61788973	G	A	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	c.154G>A	p.V52M	non-syn	rs148375974	-	A=4/G=8596;A=0/G=4406;A=4/G=13002	lod=1196:727	TOLERATED	B	-	het	2
17	14	61789018	A	G	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	c.199A>G	p.T67A	non-syn	rs201686253	-	-	lod=1196:727	TOLERATED	B	-	het	1
18	14	61789018	A	G	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	c.199A>G	p.T67A	non-syn	rs201686253	-	-	lod=1196:727	TOLERATED	B	-	het	1
19	14	61789089	G	T	ENST00000332981	ENSG00000027075	61654277	62017694	ENSP00000329127	PRKCH	1	KPCL_HUMAN	c.270G>T	p.T90T	syn	rs34886068	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=1196:727	-	-	-	het	2
20	14	61789089	G	T	ENST00000557294	ENSG00000027075	61654277	62017694	ENSP00000452129	PRKCH	1	-	c.270G>T	p.T90T	syn	rs34886068	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=1196:727	-	-	-	het	2

** 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 PRKCH 14:61654277..62017694 region Gbrowse