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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 KCTD7:

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
ENSG00000243335	KCTD7	0	0	33	ENSG00000243335	ENST00000275532	ENSP00000275532	potassium channel tetramerization domain containing 7 [Source:HGNC Symbol;Acc:21957]	7	66093868	66276446	1	q11.21	66093868	66108038	KCTD7	KCTD7-001	HGNC Symbol	HGNC transcript name	7	45.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	154881	21957	KCTD7	NM_153033	27506

MSeqDR Master Exome Data Set M1: 232 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	7	66093883	G	A	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	7	66093936	C	T	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	7	66093936	C	T	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	7	66093938	T	C	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	7	66093938	T	C	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	7	66094008	C	T	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	hom	133
7	7	66094008	C	T	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	het	350
8	7	66094008	C	T	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	hom	133
9	7	66094008	C	T	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	het	350
10	7	66094008	C	T	ENST00000449064	ENSG00000243335	66093868	66276446	ENSP00000388463	KCTD7	1	-	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	hom	133
11	7	66094008	C	T	ENST00000449064	ENSG00000243335	66093868	66276446	ENSP00000388463	KCTD7	1	-	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	het	350
12	7	66094008	C	T	ENST00000503687	ENSG00000243335	66093868	66276446	ENSP00000421074	KCTD7	1	-	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	hom	133
13	7	66094008	C	T	ENST00000503687	ENSG00000243335	66093868	66276446	ENSP00000421074	KCTD7	1	-	-	-	5'_UTR	rs35526611	0.507	T=3984/C=3674;T=2722/C=1190;T=6706/C=4864	-	-	-	-	het	350
14	7	66098321	A	G	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	c.204A>G	p.T68T	syn	NA	-	-	lod=239:554	-	-	-	het	1
15	7	66098321	A	G	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	c.204A>G	p.T68T	syn	NA	-	-	lod=239:554	-	-	-	het	1
16	7	66098384	G	A	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	c.267G>A	p.T89T	syn	rs3764904	0.12996	A=960/G=7640;A=120/G=4286;A=1080/G=11926	lod=16:265	-	-	-	hom	19
17	7	66098384	G	A	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	c.267G>A	p.T89T	syn	rs3764904	0.12996	A=960/G=7640;A=120/G=4286;A=1080/G=11926	lod=16:265	-	-	-	het	161
18	7	66098384	G	A	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	c.267G>A	p.T89T	syn	rs3764904	0.12996	A=960/G=7640;A=120/G=4286;A=1080/G=11926	lod=16:265	-	-	-	hom	19
19	7	66098384	G	A	ENST00000443322	ENSG00000243335	66093868	66276446	ENSP00000411624	KCTD7	1	KCTD7_HUMAN	c.267G>A	p.T89T	syn	rs3764904	0.12996	A=960/G=7640;A=120/G=4286;A=1080/G=11926	lod=16:265	-	-	-	het	161
20	7	66098390	C	T	ENST00000275532	ENSG00000243335	66093868	66276446	ENSP00000275532	KCTD7	1	KCTD7_HUMAN	c.273C>T	p.S91S	syn	rs139585796	0.0015	T=5/C=8595;T=0/C=4406;T=5/C=13001	lod=51:389	-	-	-	hom	1

** 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 KCTD7 7:66093868..66276446 region Gbrowse