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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 CASR:

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
ENSG00000036828	CASR	0	0	105	ENSG00000036828	ENST00000490131	ENSP00000418685	calcium-sensing receptor [Source:HGNC Symbol;Acc:1514]	3	121902530	122005342	1	q21.1	121902530	122004212	CASR	CASR-001	HGNC Symbol	HGNC transcript name	4	41.03	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	846	1514	CASR	NM_000388	27517

MSeqDR Master Exome Data Set M1: 114 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	121973114	C	G	ENST00000296154	ENSG00000036828	121902530	122005342	ENSP00000296154	CASR	1	CASR_HUMAN	c.78C>G	p.A26A	syn	rs77852524	0.0759	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=285:573	-	-	-	het	3
2	3	121973114	C	G	ENST00000490131	ENSG00000036828	121902530	122005342	ENSP00000418685	CASR	1	CASR_HUMAN	c.78C>G	p.A26A	syn	rs77852524	0.0759	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=285:573	-	-	-	het	3
3	3	121973114	C	G	ENST00000498619	ENSG00000036828	121902530	122005342	ENSP00000420194	CASR	1	-	c.78C>G	p.A26A	syn	rs77852524	0.0759	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=285:573	-	-	-	het	3
4	3	121976146	T	C	ENST00000296154	ENSG00000036828	121902530	122005342	ENSP00000296154	CASR	1	CASR_HUMAN	c.404T>C	p.I135T	non-syn	NA	-	-	lod=104:466	TOLERATED	D	-	het	1
5	3	121976146	T	C	ENST00000490131	ENSG00000036828	121902530	122005342	ENSP00000418685	CASR	1	CASR_HUMAN	c.404T>C	p.I135T	non-syn	NA	-	-	lod=104:466	TOLERATED	D	-	het	1
6	3	121976146	T	C	ENST00000490186	ENSG00000036828	121902530	122005342	-	CASR	1	-	c.263T>C	p.I88T	non-syn	NA	-	-	lod=104:466	TOLERATED	D	-	het	1
7	3	121976146	T	C	ENST00000498619	ENSG00000036828	121902530	122005342	ENSP00000420194	CASR	1	-	c.404T>C	p.I135T	non-syn	NA	-	-	lod=104:466	TOLERATED	D	-	het	1
8	3	121976253	G	A	ENST00000296154	ENSG00000036828	121902530	122005342	ENSP00000296154	CASR	1	CASR_HUMAN	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	hom	791
9	3	121976253	G	A	ENST00000296154	ENSG00000036828	121902530	122005342	ENSP00000296154	CASR	1	CASR_HUMAN	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	het	56
10	3	121976253	G	A	ENST00000490131	ENSG00000036828	121902530	122005342	ENSP00000418685	CASR	1	CASR_HUMAN	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	hom	791
11	3	121976253	G	A	ENST00000490131	ENSG00000036828	121902530	122005342	ENSP00000418685	CASR	1	CASR_HUMAN	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	het	56
12	3	121976253	G	A	ENST00000490186	ENSG00000036828	121902530	122005342	-	CASR	1	-	c.370G>A	p.A124T	non-syn	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	hom	791
13	3	121976253	G	A	ENST00000490186	ENSG00000036828	121902530	122005342	-	CASR	1	-	c.370G>A	p.A124T	non-syn	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	het	56
14	3	121976253	G	A	ENST00000498619	ENSG00000036828	121902530	122005342	ENSP00000420194	CASR	1	-	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	hom	791
15	3	121976253	G	A	ENST00000498619	ENSG00000036828	121902530	122005342	ENSP00000420194	CASR	1	-	-	-	+19bp 5'_splice_site	rs9869985	0.96535	A=8251/G=349;A=3615/G=791;A=11866/G=1140	-	-	-	-	het	56
16	3	121976402	C	T	ENST00000490186	ENSG00000036828	121902530	122005342	-	CASR	1	-	c.519C>T	p.S173S	syn	rs182432973	0.00449	-	-	-	-	-	het	1
17	3	121976471	C	-TG	ENST00000490186	ENSG00000036828	121902530	122005342	-	CASR	1	-	c.589_590del	p.C197NA	non-syn	rs138442193	-	-	-	-	-	-	het	2
18	3	121980455	G	A	ENST00000296154	ENSG00000036828	121902530	122005342	ENSP00000296154	CASR	1	CASR_HUMAN	c.573G>A	p.E191E	syn	rs141631116	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=618:656	-	-	-	het	6
19	3	121980455	G	A	ENST00000490131	ENSG00000036828	121902530	122005342	ENSP00000418685	CASR	1	CASR_HUMAN	c.573G>A	p.E191E	syn	rs141631116	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=618:656	-	-	-	het	6
20	3	121980455	G	A	ENST00000498619	ENSG00000036828	121902530	122005342	ENSP00000420194	CASR	1	-	c.573G>A	p.E191E	syn	rs141631116	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=618:656	-	-	-	het	6

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding CASR 3:121902530..122005342 region Gbrowse