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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 KCNE3:

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
ENSG00000175538	KCNE3	0	0	10	ENSG00000175538	ENST00000310128	ENSP00000310557	potassium voltage-gated channel, Isk-related family, member 3 [Source:HGNC Symbol;Acc:6243]	11	74165886	74178774	-1	q13.4	74165886	74178673	KCNE3	KCNE3-001	HGNC Symbol	HGNC transcript name	6	48.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10008	6243	KCNE3	NM_005472	27504

MSeqDR Master Exome Data Set M1: 59 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	11	74165947	A	C	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	11	74165954	G	C	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs34315739	0.11376	-	-	-	-	-	hom	11
3	11	74165954	G	C	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs34315739	0.11376	-	-	-	-	-	het	142
4	11	74165957	T	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
5	11	74166267	A	G	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	11	74166278	G	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs9516	0.55505	-	-	-	-	-	het	335
7	11	74166278	G	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs9516	0.55505	-	-	-	-	-	hom	227
8	11	74166320	T	G	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs7789	0.44234	-	-	-	-	-	het	325
9	11	74166320	T	G	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs7789	0.44234	-	-	-	-	-	hom	141
10	11	74166345	C	T	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	11	74166437	A	C	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	11	74166543	T	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs41315533	0.0085	-	-	-	-	-	het	2
13	11	74166781	G	+T	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	52
14	11	74166781	G	+TT	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	34
15	11	74166833	C	T	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs41313581	0.005	-	-	-	-	-	het	1
16	11	74166859	A	G	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs35833816	0.4251	-	-	-	-	-	hom	35
17	11	74166859	A	G	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs35833816	0.4251	-	-	-	-	-	het	72
18	11	74166866	G	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs28705219	0.3947	-	-	-	-	-	het	59
19	11	74166866	G	A	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs28705219	0.3947	-	-	-	-	-	hom	36
20	11	74167200	A	-ATATAT	ENST00000310128	ENSG00000175538	74165886	74178774	ENSP00000310557	KCNE3	-1	KCNE3_HUMAN	-	-	3'_UTR	rs113583236	-	-	-	-	-	-	het	20

** 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 KCNE3 11:74165886..74178774 region Gbrowse