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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 KANK1:

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
ENSG00000107104	KANK1	0	0	13	ENSG00000107104	ENST00000382303	ENSP00000371740	KN motif and ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:19309]	9	470291	746105	1	p24.3	470291	746105	KANK1	KANK1-001	HGNC Symbol	HGNC transcript name	9	42.03	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	23189	19309	KANK1	NM_001256876	27518

MSeqDR Master Exome Data Set M1: 720 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	9	484336	C	T	ENST00000467541	ENSG00000107104	470291	746105	-	KANK1	1	-	c.359C>T	p.T120M	non-syn	rs3739593	0.7493	-	-	-	-	-	het	1
2	9	676951	C	T	ENST00000354485	ENSG00000107104	470291	746105	-	KANK1	1	-	c.114C>T	p.I38I	syn	NA	-	-	-	-	-	-	het	1
3	9	676951	C	T	ENST00000382297	ENSG00000107104	470291	746105	ENSP00000371734	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	9	676951	C	T	ENST00000382303	ENSG00000107104	470291	746105	ENSP00000371740	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	9	676951	C	T	ENST00000489369	ENSG00000107104	470291	746105	-	KANK1	1	-	c.115C>T	p.L39F	non-syn	NA	-	-	-	-	-	-	het	1
6	9	676954	T	C	ENST00000354485	ENSG00000107104	470291	746105	-	KANK1	1	-	c.117T>C	p.S39S	syn	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	hom	70
7	9	676954	T	C	ENST00000354485	ENSG00000107104	470291	746105	-	KANK1	1	-	c.117T>C	p.S39S	syn	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	het	342
8	9	676954	T	C	ENST00000382297	ENSG00000107104	470291	746105	ENSP00000371734	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	hom	70
9	9	676954	T	C	ENST00000382297	ENSG00000107104	470291	746105	ENSP00000371734	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	het	342
10	9	676954	T	C	ENST00000382303	ENSG00000107104	470291	746105	ENSP00000371740	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	hom	70
11	9	676954	T	C	ENST00000382303	ENSG00000107104	470291	746105	ENSP00000371740	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	het	342
12	9	676954	T	C	ENST00000489369	ENSG00000107104	470291	746105	-	KANK1	1	-	c.118T>C	p.S40P	non-syn	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	hom	70
13	9	676954	T	C	ENST00000489369	ENSG00000107104	470291	746105	-	KANK1	1	-	c.118T>C	p.S40P	non-syn	rs2296055	0.4956	C=1884/T=6716;C=2807/T=1599;C=4691/T=8315	-	-	-	-	het	342
14	9	707193	G	C	ENST00000382293	ENSG00000107104	470291	746105	ENSP00000371730	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs77010388	0.0704	-	-	-	-	-	hom	1
15	9	710818	A	G	ENST00000354485	ENSG00000107104	470291	746105	-	KANK1	1	-	c.187A>G	p.I63V	non-syn	rs61737970	0.01178	G=169/A=8431;G=18/A=4388;G=187/A=12819	-	TOLERATED	B	-	het	30
16	9	710818	A	G	ENST00000382293	ENSG00000107104	470291	746105	ENSP00000371730	KANK1	1	KANK1_HUMAN	-	-	5'_UTR	rs61737970	0.01178	G=169/A=8431;G=18/A=4388;G=187/A=12819	-	TOLERATED	B	-	het	30
17	9	710818	A	G	ENST00000382297	ENSG00000107104	470291	746105	ENSP00000371734	KANK1	1	KANK1_HUMAN	c.52A>G	p.I18V	non-syn	rs61737970	0.01178	G=169/A=8431;G=18/A=4388;G=187/A=12819	-	TOLERATED	B	-	het	30
18	9	710818	A	G	ENST00000382303	ENSG00000107104	470291	746105	ENSP00000371740	KANK1	1	KANK1_HUMAN	c.52A>G	p.I18V	non-syn	rs61737970	0.01178	G=169/A=8431;G=18/A=4388;G=187/A=12819	-	TOLERATED	B	-	het	30
19	9	710818	A	G	ENST00000489369	ENSG00000107104	470291	746105	-	KANK1	1	-	c.188A>G	p.Y63C	non-syn	rs61737970	0.01178	G=169/A=8431;G=18/A=4388;G=187/A=12819	-	TOLERATED	B	-	het	30
20	9	710859	C	T	ENST00000354485	ENSG00000107104	470291	746105	-	KANK1	1	-	c.228C>T	p.Y76Y	syn	rs151056048	-	T=0/C=8600;T=8/C=4398;T=8/C=12998	lod=813:685	-	-	-	het	2

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Transcripts and variants in the surrounding KANK1 9:470291..746105 region Gbrowse