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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 CTCF:

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
ENSG00000102974	CTCF	0	0	7	ENSG00000102974	ENST00000264010	ENSP00000264010	CCCTC-binding factor (zinc finger protein) [Source:HGNC Symbol;Acc:13723]	16	67596310	67673086	1	q22.1	67596310	67673086	CTCF	CTCF-001	HGNC Symbol	HGNC transcript name	3	45.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10664	13723	CTCF	NM_006565	27514

MSeqDR Master Exome Data Set M1: 76 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	16	67605125	G	A	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	-	-	5'_UTR	rs77172747	0.02514	-	lod=101:462	-	-	-	het	14
2	16	67605125	G	A	ENST00000401394	ENSG00000102974	67596310	67673086	ENSP00000384707	CTCF	1	CTCF_HUMAN	-	-	5'_UTR	rs77172747	0.02514	-	lod=101:462	-	-	-	het	14
3	16	67605125	G	A	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.262G>A	p.V88I	non-syn	rs77172747	0.02514	-	lod=101:462	-	-	-	het	14
4	16	67644753	C	T	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.18C>T	p.V6V	syn	NA	-	-	lod=228:549	-	-	-	hom	1
5	16	67644753	C	T	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.18C>T	p.V6V	syn	NA	-	-	lod=228:549	-	-	-	het	6
6	16	67644753	C	T	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.331C>T	p.R111*	non-syn	NA	-	-	lod=228:549	-	-	-	hom	1
7	16	67644753	C	T	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.331C>T	p.R111*	non-syn	NA	-	-	lod=228:549	-	-	-	het	6
8	16	67644856	C	G	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.121C>G	p.P41A	non-syn	NA	-	G=0/C=8600;G=1/C=4395;G=1/C=12995	lod=909:697	TOLERATED	B	-	het	2
9	16	67644856	C	G	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.434C>G	p.T145S	non-syn	NA	-	G=0/C=8600;G=1/C=4395;G=1/C=12995	lod=909:697	TOLERATED	B	-	het	2
10	16	67644865	C	A	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.130C>A	p.Q44K	non-syn	NA	-	-	lod=909:697	DAMAGING	D	-	het	3
11	16	67644865	C	A	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.443C>A	p.P148Q	non-syn	NA	-	-	lod=909:697	DAMAGING	D	-	het	3
12	16	67644866	A	G	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.131A>G	p.Q44R	non-syn	NA	-	-	lod=909:697	DAMAGING	D	-	het	3
13	16	67644866	A	G	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.444A>G	p.P148P	syn	NA	-	-	lod=909:697	DAMAGING	D	-	het	3
14	16	67645557	T	C	ENST00000566078	ENSG00000102974	67596310	67673086	-	CTCF	1	-	c.1135T>C	p.W379R	non-syn	rs114333570	0.0126	C=0/T=8376;C=48/T=4236;C=48/T=12612	-	-	-	-	het	1
15	16	67654677	C	T	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.1164C>T	p.S388S	syn	rs143837268	0.026	T=173/C=8427;T=15/C=4381;T=188/C=12808	lod=1051:713	-	-	-	het	45
16	16	67654677	C	T	ENST00000401394	ENSG00000102974	67596310	67673086	ENSP00000384707	CTCF	1	CTCF_HUMAN	c.180C>T	p.S60S	syn	rs143837268	0.026	T=173/C=8427;T=15/C=4381;T=188/C=12808	lod=1051:713	-	-	-	het	45
17	16	67662404	C	T	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	c.1650C>T	p.F550F	syn	NA	-	-	lod=732:674	-	-	-	het	3
18	16	67662404	C	T	ENST00000401394	ENSG00000102974	67596310	67673086	ENSP00000384707	CTCF	1	CTCF_HUMAN	c.666C>T	p.F222F	syn	NA	-	-	lod=732:674	-	-	-	het	3
19	16	67663291	T	C	ENST00000264010	ENSG00000102974	67596310	67673086	ENSP00000264010	CTCF	1	CTCF_HUMAN	-	-	-10bp 3'_splice_site	rs151017109	0.0169	C=4/T=8596;C=50/T=4346;C=54/T=12942	lod=28:325	-	-	-	het	1
20	16	67663291	T	C	ENST00000401394	ENSG00000102974	67596310	67673086	ENSP00000384707	CTCF	1	CTCF_HUMAN	-	-	-10bp 3'_splice_site	rs151017109	0.0169	C=4/T=8596;C=50/T=4346;C=54/T=12942	lod=28:325	-	-	-	het	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 CTCF 16:67596310..67673086 region Gbrowse