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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 KCNJ11:

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
ENSG00000187486	KCNJ11	1	7	75	ENSG00000187486	ENST00000339994	ENSP00000345708	potassium inwardly-rectifying channel, subfamily J, member 11 [Source:HGNC Symbol;Acc:6257]	11	17407406	17410878	-1	p15.1	17407406	17410206	KCNJ11	KCNJ11-001	HGNC Symbol	HGNC transcript name	5	63.78	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3767	6257	KCNJ11	NM_000525	27504

MSeqDR Master Exome Data Set M1: 96 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	17407429	C	A	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
2	11	17407429	C	A	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
3	11	17407618	T	C	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs5206	0.0093	-	-	-	-	-	het	9
4	11	17407618	T	C	ENST00000526747	ENSG00000187486	17407406	17410878	-	KCNJ11	-1	-	c.410A>G	p.H137R	non-syn	rs5206	0.0093	-	-	-	-	-	het	9
5	11	17407618	T	C	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs5206	0.0093	-	-	-	-	-	het	9
6	11	17407700	C	T	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs193101892	0.0043	-	-	-	-	-	het	11
7	11	17407700	C	T	ENST00000526747	ENSG00000187486	17407406	17410878	-	KCNJ11	-1	-	c.328G>A	p.E110K	non-syn	rs193101892	0.0043	-	-	-	-	-	het	11
8	11	17407700	C	T	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs193101892	0.0043	-	-	-	-	-	het	11
9	11	17407727	T	C	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	11	17407727	T	C	ENST00000526747	ENSG00000187486	17407406	17410878	-	KCNJ11	-1	-	c.301A>G	p.T101A	non-syn	NA	-	-	-	-	-	-	het	1
11	11	17407727	T	C	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	11	17407780	T	C	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs147282653	0.0046	-	-	-	-	-	het	2
13	11	17407780	T	C	ENST00000526747	ENSG00000187486	17407406	17410878	-	KCNJ11	-1	-	c.248A>G	p.H83R	non-syn	rs147282653	0.0046	-	-	-	-	-	het	2
14	11	17407780	T	C	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs147282653	0.0046	-	-	-	-	-	het	2
15	11	17407842	C	T	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	17407842	C	T	ENST00000526747	ENSG00000187486	17407406	17410878	-	KCNJ11	-1	-	c.186G>A	p.S62S	syn	NA	-	-	-	-	-	-	het	1
17	11	17407842	C	T	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	11	17407937	C	T	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs115826080	0.0083	-	-	-	-	-	het	6
19	11	17407937	C	T	ENST00000528731	ENSG00000187486	17407406	17410878	ENSP00000434755	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs115826080	0.0083	-	-	-	-	-	het	6
20	11	17407979	T	C	ENST00000339994	ENSG00000187486	17407406	17410878	ENSP00000345708	KCNJ11	-1	IRK11_HUMAN	-	-	3'_UTR	rs79457490	0.0237	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding KCNJ11 11:17407406..17410878 region Gbrowse