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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 WNK1:

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
ENSG00000060237	WNK1	0	0	25	ENSG00000060237	ENST00000545055		WNK lysine deficient protein kinase 1 [Source:HGNC Symbol;Acc:14540]	12	861759	1020618	1	p13.33	990637	992585	WNK1	WNK1-010	HGNC Symbol	HGNC transcript name	21	38.72	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	65125	14540	WNK1		27519

MSeqDR Master Exome Data Set M1: 803 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	12	861907	C	T	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	12	862134	C	G	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	12	862134	C	G	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	12	862134	C	G	ENST00000537687	ENSG00000060237	861759	1020618	ENSP00000444465	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	12	862218	C	T	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	NA	-	-	lod=43:371	-	-	-	het	2
6	12	862218	C	T	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	NA	-	-	lod=43:371	-	-	-	het	2
7	12	862218	C	T	ENST00000537687	ENSG00000060237	861759	1020618	ENSP00000444465	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	NA	-	-	lod=43:371	-	-	-	het	2
8	12	862280	G	A	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	het	68
9	12	862280	G	A	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	hom	5
10	12	862280	G	A	ENST00000447667	ENSG00000060237	861759	1020618	ENSP00000392542	WNK1	1	-	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	het	68
11	12	862280	G	A	ENST00000447667	ENSG00000060237	861759	1020618	ENSP00000392542	WNK1	1	-	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	hom	5
12	12	862280	G	A	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	het	68
13	12	862280	G	A	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	hom	5
14	12	862280	G	A	ENST00000537687	ENSG00000060237	861759	1020618	ENSP00000444465	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	het	68
15	12	862280	G	A	ENST00000537687	ENSG00000060237	861759	1020618	ENSP00000444465	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs118007973	0.0639	-	-	-	-	-	hom	5
16	12	862404	C	G	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs189463195	0.0047	-	lod=67:419	-	-	-	het	10
17	12	862404	C	G	ENST00000447667	ENSG00000060237	861759	1020618	ENSP00000392542	WNK1	1	-	-	-	5'_UTR	rs189463195	0.0047	-	lod=67:419	-	-	-	het	10
18	12	862404	C	G	ENST00000535572	ENSG00000060237	861759	1020618	ENSP00000441972	WNK1	1	-	-	-	5'_UTR	rs189463195	0.0047	-	lod=67:419	-	-	-	het	10
19	12	862404	C	G	ENST00000537687	ENSG00000060237	861759	1020618	ENSP00000444465	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	rs189463195	0.0047	-	lod=67:419	-	-	-	het	10
20	12	862479	A	G	ENST00000315939	ENSG00000060237	861759	1020618	ENSP00000313059	WNK1	1	WNK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding WNK1 12:861759..1020618 region Gbrowse