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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 CD96:

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
ENSG00000153283	CD96	0	0	1	ENSG00000153283	ENST00000460744	ENSP00000475194	CD96 molecule [Source:HGNC Symbol;Acc:16892]	3	111011566	111384597	1	q13.13	111011566	111261149	CD96	CD96-007	HGNC Symbol	HGNC transcript name	7	38.02	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	10225	16892	CD96		27517

MSeqDR Master Exome Data Set M1: 157 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	111260975	C	T	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	-	-	5'_UTR	rs2276873	0.61183	-	-	-	-	-	het	382
2	3	111260975	C	T	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	-	-	5'_UTR	rs2276873	0.61183	-	-	-	-	-	hom	317
3	3	111260975	C	T	ENST00000352690	ENSG00000153283	111011566	111384597	ENSP00000342040	CD96	1	TACT_HUMAN	-	-	5'_UTR	rs2276873	0.61183	-	-	-	-	-	het	382
4	3	111260975	C	T	ENST00000352690	ENSG00000153283	111011566	111384597	ENSP00000342040	CD96	1	TACT_HUMAN	-	-	5'_UTR	rs2276873	0.61183	-	-	-	-	-	hom	317
5	3	111261121	C	G	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	c.26C>G	p.A9G	non-syn	NA	-	G=4/C=8596;G=0/C=4406;G=4/C=13002	-	DAMAGING	P	-	het	2
6	3	111261121	C	G	ENST00000352690	ENSG00000153283	111011566	111384597	ENSP00000342040	CD96	1	TACT_HUMAN	c.26C>G	p.A9G	non-syn	NA	-	G=4/C=8596;G=0/C=4406;G=4/C=13002	-	DAMAGING	P	-	het	2
7	3	111261121	C	G	ENST00000438817	ENSG00000153283	111011566	111384597	ENSP00000389801	CD96	1	-	c.26C>G	p.A9G	non-syn	NA	-	G=4/C=8596;G=0/C=4406;G=4/C=13002	-	DAMAGING	P	-	het	2
8	3	111261121	C	G	ENST00000488054	ENSG00000153283	111011566	111384597	ENSP00000417680	CD96	1	-	c.26C>G	p.A9G	non-syn	NA	-	G=4/C=8596;G=0/C=4406;G=4/C=13002	-	DAMAGING	P	-	het	2
9	3	111261121	C	G	ENST00000494798	ENSG00000153283	111011566	111384597	ENSP00000417152	CD96	1	-	c.26C>G	p.A9G	non-syn	NA	-	G=4/C=8596;G=0/C=4406;G=4/C=13002	-	DAMAGING	P	-	het	2
10	3	111261173	T	C	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	-	-	+17bp 5'_splice_site	rs11929008	0.0298	C=2/T=8598;C=126/T=4280;C=128/T=12878	-	-	-	-	het	4
11	3	111261173	T	C	ENST00000352690	ENSG00000153283	111011566	111384597	ENSP00000342040	CD96	1	TACT_HUMAN	-	-	+17bp 5'_splice_site	rs11929008	0.0298	C=2/T=8598;C=126/T=4280;C=128/T=12878	-	-	-	-	het	4
12	3	111261173	T	C	ENST00000438817	ENSG00000153283	111011566	111384597	ENSP00000389801	CD96	1	-	-	-	+17bp 5'_splice_site	rs11929008	0.0298	C=2/T=8598;C=126/T=4280;C=128/T=12878	-	-	-	-	het	4
13	3	111261173	T	C	ENST00000488054	ENSG00000153283	111011566	111384597	ENSP00000417680	CD96	1	-	-	-	+17bp 5'_splice_site	rs11929008	0.0298	C=2/T=8598;C=126/T=4280;C=128/T=12878	-	-	-	-	het	4
14	3	111261173	T	C	ENST00000494798	ENSG00000153283	111011566	111384597	ENSP00000417152	CD96	1	-	-	-	+17bp 5'_splice_site	rs11929008	0.0298	C=2/T=8598;C=126/T=4280;C=128/T=12878	-	-	-	-	het	4
15	3	111264008	C	A	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	c.177C>A	p.S59S	syn	rs145133367	0.0009	A=10/C=8590;A=1/C=4405;A=11/C=12995	lod=39:361	-	-	-	het	1
16	3	111264008	C	A	ENST00000352690	ENSG00000153283	111011566	111384597	ENSP00000342040	CD96	1	TACT_HUMAN	c.177C>A	p.S59S	syn	rs145133367	0.0009	A=10/C=8590;A=1/C=4405;A=11/C=12995	lod=39:361	-	-	-	het	1
17	3	111264008	C	A	ENST00000438817	ENSG00000153283	111011566	111384597	ENSP00000389801	CD96	1	-	c.177C>A	p.S59S	syn	rs145133367	0.0009	A=10/C=8590;A=1/C=4405;A=11/C=12995	lod=39:361	-	-	-	het	1
18	3	111264008	C	A	ENST00000488054	ENSG00000153283	111011566	111384597	ENSP00000417680	CD96	1	-	c.177C>A	p.S59S	syn	rs145133367	0.0009	A=10/C=8590;A=1/C=4405;A=11/C=12995	lod=39:361	-	-	-	het	1
19	3	111264008	C	A	ENST00000494798	ENSG00000153283	111011566	111384597	ENSP00000417152	CD96	1	-	c.177C>A	p.S59S	syn	rs145133367	0.0009	A=10/C=8590;A=1/C=4405;A=11/C=12995	lod=39:361	-	-	-	het	1
20	3	111264012	G	A	ENST00000283285	ENSG00000153283	111011566	111384597	ENSP00000283285	CD96	1	TACT_HUMAN	c.181G>A	p.V61I	non-syn	rs150450686	0.00272	A=4/G=8596;A=0/G=4406;A=4/G=13002	lod=39:361	TOLERATED	B	-	het	3

** 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 CD96 3:111011566..111384597 region Gbrowse