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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 CASK:

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
ENSG00000147044	CASK	0	0	60	ENSG00000147044	ENST00000421587	ENSP00000400526	calcium/calmodulin-dependent serine protein kinase (MAGUK family) [Source:HGNC Symbol;Acc:1497]	X	41374187	41782716	-1	p11.4	41374187	41782265	CASK	CASK-004	HGNC Symbol	HGNC transcript name	15	38.73	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8573	1497	CASK	NM_001126055	27516

MSeqDR Master Exome Data Set M1: 398 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	X	41374379	C	T	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	het	1
2	X	41374379	C	T	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	hom	1
3	X	41374379	C	T	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	het	1
4	X	41374379	C	T	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	hom	1
5	X	41374379	C	T	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	het	1
6	X	41374379	C	T	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs10126166	0.0122	-	lod=23:304	-	-	-	hom	1
7	X	41374397	G	A	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	het	66
8	X	41374397	G	A	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	hom	52
9	X	41374397	G	A	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	het	66
10	X	41374397	G	A	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	hom	52
11	X	41374397	G	A	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	het	66
12	X	41374397	G	A	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs3203642	0.1294	-	-	-	-	-	hom	52
13	X	41374428	G	A	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	het	1
14	X	41374428	G	A	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	hom	1
15	X	41374428	G	A	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	het	1
16	X	41374428	G	A	ENST00000361962	ENSG00000147044	41374187	41782716	ENSP00000354641	CASK	-1	-	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	hom	1
17	X	41374428	G	A	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	het	1
18	X	41374428	G	A	ENST00000421587	ENSG00000147044	41374187	41782716	ENSP00000400526	CASK	-1	CSKP_HUMAN	-	-	3'_UTR	rs145967324	0.0096	-	lod=320:586	-	-	-	hom	1
19	X	41374523	T	C	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs5918192	0.11538	-	lod=320:586	-	-	-	hom	51
20	X	41374523	T	C	ENST00000318588	ENSG00000147044	41374187	41782716	ENSP00000322727	CASK	-1	-	-	-	3'_UTR	rs5918192	0.11538	-	lod=320:586	-	-	-	het	65

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Transcripts and variants in the surrounding CASK X:41374187..41782716 region Gbrowse