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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 KNG1:

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
ENSG00000113889	KNG1	0	0	4	ENSG00000113889	ENST00000287611	ENSP00000287611	kininogen 1 [Source:HGNC Symbol;Acc:6383]	3	186435065	186461743	1	q27.3	186435065	186461743	KNG1	KNG1-001	HGNC Symbol	HGNC transcript name	3	41.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3827	6383	KNG1	NM_000893	27517

MSeqDR Master Exome Data Set M1: 119 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	3	186435076	A	C	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	3	186435077	A	G	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	-	-	5'_UTR	rs3806689	0.32342	-	-	-	-	-	het	257
3	3	186435077	A	G	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	-	-	5'_UTR	rs3806689	0.32342	-	-	-	-	-	hom	90
4	3	186435286	T	A	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	-	-	5'_UTR	NA	-	A=7/T=8591;A=0/T=4404;A=7/T=12995	-	-	-	-	het	5
5	3	186435286	T	A	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	-	-	5'_UTR	NA	-	A=7/T=8591;A=0/T=4404;A=7/T=12995	-	-	-	-	het	5
6	3	186435286	T	A	ENST00000447445	ENSG00000113889	186435065	186461743	ENSP00000396025	KNG1	1	-	-	-	5'_UTR	NA	-	A=7/T=8591;A=0/T=4404;A=7/T=12995	-	-	-	-	het	5
7	3	186435370	G	A	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	het	444
8	3	186435370	G	A	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	hom	138
9	3	186435370	G	A	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	het	444
10	3	186435370	G	A	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	hom	138
11	3	186435370	G	A	ENST00000447445	ENSG00000113889	186435065	186461743	ENSP00000396025	KNG1	1	-	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	het	444
12	3	186435370	G	A	ENST00000447445	ENSG00000113889	186435065	186461743	ENSP00000396025	KNG1	1	-	c.39G>A	p.L13L	syn	rs1050274	0.3258	A=2755/G=5845;A=2047/G=2359;A=4802/G=8204	lod=42:369	-	-	-	hom	138
13	3	186435389	G	C	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.58G>C	p.E20Q	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
14	3	186435389	G	C	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	c.58G>C	p.E20Q	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
15	3	186435389	G	C	ENST00000447445	ENSG00000113889	186435065	186461743	ENSP00000396025	KNG1	1	-	c.58G>C	p.E20Q	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
16	3	186435412	C	G	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.81C>G	p.D27E	non-syn	rs148819200	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=20:289	DAMAGING	D	-	het	2
17	3	186435412	C	G	ENST00000287611	ENSG00000113889	186435065	186461743	ENSP00000287611	KNG1	1	KNG1_HUMAN	c.81C>G	p.D27E	non-syn	rs148819200	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=20:289	DAMAGING	D	-	het	2
18	3	186435412	C	G	ENST00000447445	ENSG00000113889	186435065	186461743	ENSP00000396025	KNG1	1	-	c.81C>G	p.D27E	non-syn	rs148819200	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=20:289	DAMAGING	D	-	het	2
19	3	186437944	T	C	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.246T>C	p.D82D	syn	rs5029980	0.13192	C=960/T=7640;C=302/T=4104;C=1262/T=11744	lod=69:422	-	-	-	het	207
20	3	186437944	T	C	ENST00000265023	ENSG00000113889	186435065	186461743	ENSP00000265023	KNG1	1	KNG1_HUMAN	c.246T>C	p.D82D	syn	rs5029980	0.13192	C=960/T=7640;C=302/T=4104;C=1262/T=11744	lod=69:422	-	-	-	hom	21

** 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 KNG1 3:186435065..186461743 region Gbrowse