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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 ENSG00000163599:

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
ENSG00000163599	CTLA4	0	0	7	ENSG00000163599	ENST00000302823	ENSP00000303939	cytotoxic T-lymphocyte-associated protein 4 [Source:HGNC Symbol;Acc:2505]	2	204732509	204738683	1	q33.2	204732509	204738683	CTLA4	CTLA4-001	HGNC Symbol	HGNC transcript name	5	42.22	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1493	2505	CTLA4	NM_005214	27508

MSeqDR Master Exome Data Set M1: 36 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	2	204732688	G	A	ENST00000295854	ENSG00000163599	204732509	204738683	ENSP00000295854	CTLA4	1	-	c.23G>A	p.R8Q	non-syn	rs138279736	-	A=0/G=8600;A=3/G=4403;A=3/G=13003	-	DAMAGING	P	-	het	2
2	2	204732688	G	A	ENST00000302823	ENSG00000163599	204732509	204738683	ENSP00000303939	CTLA4	1	CTLA4_HUMAN	c.23G>A	p.R8Q	non-syn	rs138279736	-	A=0/G=8600;A=3/G=4403;A=3/G=13003	-	DAMAGING	P	-	het	2
3	2	204732688	G	A	ENST00000472206	ENSG00000163599	204732509	204738683	ENSP00000417779	CTLA4	1	CTLA4_HUMAN	c.23G>A	p.R8Q	non-syn	rs138279736	-	A=0/G=8600;A=3/G=4403;A=3/G=13003	-	DAMAGING	P	-	het	2
4	2	204732688	G	A	ENST00000487393	ENSG00000163599	204732509	204738683	-	CTLA4	1	-	c.23G>A	p.R8Q	non-syn	rs138279736	-	A=0/G=8600;A=3/G=4403;A=3/G=13003	-	DAMAGING	P	-	het	2
5	2	204732714	A	G	ENST00000295854	ENSG00000163599	204732509	204738683	ENSP00000295854	CTLA4	1	-	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	het	507
6	2	204732714	A	G	ENST00000295854	ENSG00000163599	204732509	204738683	ENSP00000295854	CTLA4	1	-	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	hom	177
7	2	204732714	A	G	ENST00000302823	ENSG00000163599	204732509	204738683	ENSP00000303939	CTLA4	1	CTLA4_HUMAN	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	het	507
8	2	204732714	A	G	ENST00000302823	ENSG00000163599	204732509	204738683	ENSP00000303939	CTLA4	1	CTLA4_HUMAN	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	hom	177
9	2	204732714	A	G	ENST00000472206	ENSG00000163599	204732509	204738683	ENSP00000417779	CTLA4	1	CTLA4_HUMAN	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	het	507
10	2	204732714	A	G	ENST00000472206	ENSG00000163599	204732509	204738683	ENSP00000417779	CTLA4	1	CTLA4_HUMAN	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	hom	177
11	2	204732714	A	G	ENST00000487393	ENSG00000163599	204732509	204738683	-	CTLA4	1	-	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	het	507
12	2	204732714	A	G	ENST00000487393	ENSG00000163599	204732509	204738683	-	CTLA4	1	-	c.49A>G	p.T17A	non-syn	rs231775	0.5137	G=3176/A=5424;G=1629/A=2777;G=4805/A=8201	-	TOLERATED	B	IDDM, association with	hom	177
13	2	204732740	G	C	ENST00000295854	ENSG00000163599	204732509	204738683	ENSP00000295854	CTLA4	1	-	c.75G>C	p.L25L	syn	rs16840275	0.0118	C=2/G=8598;C=120/G=4286;C=122/G=12884	-	-	-	-	het	5
14	2	204732740	G	C	ENST00000302823	ENSG00000163599	204732509	204738683	ENSP00000303939	CTLA4	1	CTLA4_HUMAN	c.75G>C	p.L25L	syn	rs16840275	0.0118	C=2/G=8598;C=120/G=4286;C=122/G=12884	-	-	-	-	het	5
15	2	204732740	G	C	ENST00000472206	ENSG00000163599	204732509	204738683	ENSP00000417779	CTLA4	1	CTLA4_HUMAN	c.75G>C	p.L25L	syn	rs16840275	0.0118	C=2/G=8598;C=120/G=4286;C=122/G=12884	-	-	-	-	het	5
16	2	204732740	G	C	ENST00000487393	ENSG00000163599	204732509	204738683	-	CTLA4	1	-	c.75G>C	p.L25L	syn	rs16840275	0.0118	C=2/G=8598;C=120/G=4286;C=122/G=12884	-	-	-	-	het	5
17	2	204732749	T	C	ENST00000295854	ENSG00000163599	204732509	204738683	ENSP00000295854	CTLA4	1	-	c.84T>C	p.L28L	syn	NA	-	-	lod=25:313	-	-	-	het	1
18	2	204732749	T	C	ENST00000302823	ENSG00000163599	204732509	204738683	ENSP00000303939	CTLA4	1	CTLA4_HUMAN	c.84T>C	p.L28L	syn	NA	-	-	lod=25:313	-	-	-	het	1
19	2	204732749	T	C	ENST00000472206	ENSG00000163599	204732509	204738683	ENSP00000417779	CTLA4	1	CTLA4_HUMAN	c.84T>C	p.L28L	syn	NA	-	-	lod=25:313	-	-	-	het	1
20	2	204732749	T	C	ENST00000487393	ENSG00000163599	204732509	204738683	-	CTLA4	1	-	c.84T>C	p.L28L	syn	NA	-	-	lod=25:313	-	-	-	het	1

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Transcripts and variants in the surrounding CTLA4 2:204732509..204738683 region Gbrowse