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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 ENSG00000186442:

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
ENSG00000186442	KRT3	0	0	3	ENSG00000186442	ENST00000417996	ENSP00000413479	keratin 3 [Source:HGNC Symbol;Acc:6440]	12	53183469	53189901	-1	q13.13	53183469	53189901	KRT3	KRT3-001	HGNC Symbol	HGNC transcript name	2	53.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3850	6440	KRT3	NM_057088	27519

MSeqDR Master Exome Data Set M1: 98 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	53183742	G	A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	-	-	3'_UTR	rs182886024	0.0093	-	-	-	-	-	het	4
2	12	53183742	G	A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	-	-	3'_UTR	rs182886024	0.0093	-	-	-	-	-	het	4
3	12	53183811	G	A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	-	-	3'_UTR	rs80023802	0.1464	A=546/G=5334;A=56/G=3106;A=602/G=8440	-	-	-	-	het	194
4	12	53183811	G	A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	-	-	3'_UTR	rs80023802	0.1464	A=546/G=5334;A=56/G=3106;A=602/G=8440	-	-	-	-	hom	17
5	12	53183811	G	A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	-	-	3'_UTR	rs80023802	0.1464	A=546/G=5334;A=56/G=3106;A=602/G=8440	-	-	-	-	het	194
6	12	53183811	G	A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	-	-	3'_UTR	rs80023802	0.1464	A=546/G=5334;A=56/G=3106;A=602/G=8440	-	-	-	-	hom	17
7	12	53183882	C	T	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	c.1834G>A	p.G612S	non-syn	rs187547495	0.0041	-	-	DAMAGING	-	-	het	1
8	12	53183882	C	T	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	c.1831G>A	p.G611S	non-syn	rs187547495	0.0041	-	-	DAMAGING	-	-	het	1
9	12	53183911	C	T	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	c.1805G>A	p.G602D	non-syn	rs192685142	0.0022	-	lod=37:355	DAMAGING	-	-	het	1
10	12	53183911	C	T	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	c.1802G>A	p.G601D	non-syn	rs192685142	0.0022	-	lod=37:355	DAMAGING	-	-	het	1
11	12	53183952	G	A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	c.1764C>T	p.S588S	syn	NA	-	-	-	-	-	-	het	2
12	12	53183952	G	A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	c.1761C>T	p.S587S	syn	NA	-	-	-	-	-	-	het	2
13	12	53184014	C	G	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	c.1702G>C	p.G568R	non-syn	NA	-	-	-	TOLERATED	-	-	het	1
14	12	53184014	C	G	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	c.1699G>C	p.G567R	non-syn	NA	-	-	-	TOLERATED	-	-	het	1
15	12	53184079	C	A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	c.1637G>T	p.G546V	non-syn	NA	-	-	-	TOLERATED	-	-	het	3
16	12	53184079	C	A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	c.1634G>T	p.G545V	non-syn	NA	-	-	-	TOLERATED	-	-	het	3
17	12	53184619	T	+A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	-	-	+3bp 5'_splice_site	rs140653778	-	-	lod=144:500	-	-	-	het	152
18	12	53184619	T	+A	ENST00000309505	ENSG00000186442	53183469	53189901	ENSP00000312206	KRT3	-1	-	-	-	+3bp 5'_splice_site	rs140653778	-	-	lod=144:500	-	-	-	hom	7
19	12	53184619	T	+A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	-	-	+3bp 5'_splice_site	rs140653778	-	-	lod=144:500	-	-	-	het	152
20	12	53184619	T	+A	ENST00000417996	ENSG00000186442	53183469	53189901	ENSP00000413479	KRT3	-1	K2C3_HUMAN	-	-	+3bp 5'_splice_site	rs140653778	-	-	lod=144:500	-	-	-	hom	7

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding KRT3 12:53183469..53189901 region Gbrowse