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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 CCR5:

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
ENSG00000160791	CCR5	0	0	0	ENSG00000160791	ENST00000292303	ENSP00000292303	chemokine (C-C motif) receptor 5 (gene/pseudogene) [Source:HGNC Symbol;Acc:1606]	3	46411633	46417697	1	p21.31	46412345	46417697	CCR5	CCR5-001	HGNC Symbol	HGNC transcript name	3	42.93	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1234	1606	CCR5	NM_001100168	27517

MSeqDR Master Exome Data Set M1: 118 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	46414235	A	G	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	rs186957002	0.0014	-	-	-	-	-	het	2
2	3	46414281	G	T	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	rs3176763	0.1582	-	-	-	-	-	het	13
3	3	46414365	C	T	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	-	-	-18bp 3'_splice_site	NA	-	T=3/C=8587;T=0/C=4406;T=3/C=12993	-	-	-	-	het	2
4	3	46414365	C	T	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	-	-	-18bp 3'_splice_site	NA	-	T=3/C=8587;T=0/C=4406;T=3/C=12993	-	-	-	-	het	2
5	3	46414365	C	T	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	NA	-	T=3/C=8587;T=0/C=4406;T=3/C=12993	-	-	-	-	het	2
6	3	46414384	G	C	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	rs184985767	0.00271	C=57/G=8535;C=3/G=4403;C=60/G=12938	-	-	-	-	het	13
7	3	46414384	G	C	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	rs184985767	0.00271	C=57/G=8535;C=3/G=4403;C=60/G=12938	-	-	-	-	het	13
8	3	46414384	G	C	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	-	-	5'_UTR	rs184985767	0.00271	C=57/G=8535;C=3/G=4403;C=60/G=12938	-	-	-	-	het	13
9	3	46414451	T	A	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	c.58T>A	p.C20S	non-syn	rs145061115	-	A=3/T=8589;A=0/T=4406;A=3/T=12995	lod=38:358	DAMAGING	D	-	het	5
10	3	46414451	T	A	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	c.58T>A	p.C20S	non-syn	rs145061115	-	A=3/T=8589;A=0/T=4406;A=3/T=12995	lod=38:358	DAMAGING	D	-	het	5
11	3	46414451	T	A	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	c.58T>A	p.C20S	non-syn	rs145061115	-	A=3/T=8589;A=0/T=4406;A=3/T=12995	lod=38:358	DAMAGING	D	-	het	5
12	3	46414467	T	A	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	c.74T>A	p.V25E	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
13	3	46414467	T	A	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	c.74T>A	p.V25E	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
14	3	46414467	T	A	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	c.74T>A	p.V25E	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
15	3	46414557	T	A	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	c.164T>A	p.L55Q	non-syn	rs1799863	0.02646	A=202/T=8390;A=27/T=4379;A=229/T=12769	lod=24:309	DAMAGING	D	-	het	46
16	3	46414557	T	A	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	c.164T>A	p.L55Q	non-syn	rs1799863	0.02646	A=202/T=8390;A=27/T=4379;A=229/T=12769	lod=24:309	DAMAGING	D	-	het	46
17	3	46414557	T	A	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	c.164T>A	p.L55Q	non-syn	rs1799863	0.02646	A=202/T=8390;A=27/T=4379;A=229/T=12769	lod=24:309	DAMAGING	D	-	het	46
18	3	46414573	G	T	ENST00000292303	ENSG00000160791	46411633	46417697	ENSP00000292303	CCR5	1	CCR5_HUMAN	c.180G>T	p.R60S	non-syn	rs1800940	-	T=13/G=8579;T=1/G=4405;T=14/G=12984	-	DAMAGING	P	HIV 1, resistance to, association with	het	4
19	3	46414573	G	T	ENST00000343801	ENSG00000160791	46411633	46417697	ENSP00000343985	CCR5	1	CCR5_HUMAN	c.180G>T	p.R60S	non-syn	rs1800940	-	T=13/G=8579;T=1/G=4405;T=14/G=12984	-	DAMAGING	P	HIV 1, resistance to, association with	het	4
20	3	46414573	G	T	ENST00000445772	ENSG00000160791	46411633	46417697	ENSP00000404881	CCR5	1	CCR5_HUMAN	c.180G>T	p.R60S	non-syn	rs1800940	-	T=13/G=8579;T=1/G=4405;T=14/G=12984	-	DAMAGING	P	HIV 1, resistance to, association with	het	4

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Transcripts and variants in the surrounding CCR5 3:46411633..46417697 region Gbrowse