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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 KCNE1:

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
ENSG00000180509	KCNE1	1	0	52	ENSG00000180509	ENST00000399289	ENSP00000382228	potassium voltage-gated channel, Isk-related family, member 1 [Source:HGNC Symbol;Acc:6240]	21	35818988	35884573	-1	q22.12	35818988	35831902	KCNE1	KCNE1-001	HGNC Symbol	HGNC transcript name	7	43.71	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	3753	6240	KCNE1	NM_001127669	27505

MSeqDR Master Exome Data Set M1: 239 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	21	35819014	G	A	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	het	292
2	21	35819014	G	A	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	hom	296
3	21	35819014	G	A	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	het	292
4	21	35819014	G	A	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	hom	296
5	21	35819014	G	A	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	het	292
6	21	35819014	G	A	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs2834485	0.65938	-	-	-	-	-	hom	296
7	21	35819063	T	C	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	het	313
8	21	35819063	T	C	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	hom	163
9	21	35819063	T	C	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	het	313
10	21	35819063	T	C	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	hom	163
11	21	35819063	T	C	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	het	313
12	21	35819063	T	C	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs3453	0.45281	-	-	-	-	-	hom	163
13	21	35819082	T	C	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	het	49
14	21	35819082	T	C	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	hom	1
15	21	35819082	T	C	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	het	49
16	21	35819082	T	C	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	hom	1
17	21	35819082	T	C	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	het	49
18	21	35819082	T	C	ENST00000432085	ENSG00000180509	35818988	35884573	ENSP00000412498	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	rs13050198	0.0509	-	-	-	-	-	hom	1
19	21	35819150	G	A	ENST00000337385	ENSG00000180509	35818988	35884573	ENSP00000337255	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	21	35819150	G	A	ENST00000399289	ENSG00000180509	35818988	35884573	ENSP00000382228	KCNE1	-1	KCNE1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding KCNE1 21:35818988..35884573 region Gbrowse