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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 JAK2:

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
ENSG00000096968	JAK2	0	0	0	ENSG00000096968	ENST00000476574		Janus kinase 2 [Source:HGNC Symbol;Acc:6192]	9	4985033	5128183	1	p24.1	4985033	5022065	JAK2	JAK2-002	HGNC Symbol	HGNC transcript name	5	37.53	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	3717	6192	JAK2		27518

MSeqDR Master Exome Data Set M1: 142 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	4985174	G	T	ENST00000476574	ENSG00000096968	4985033	5128183	-	JAK2	1	-	-	-	+1bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
2	9	4985174	G	T	ENST00000539801	ENSG00000096968	4985033	5128183	ENSP00000440387	JAK2	1	JAK2_HUMAN	-	-	+1bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
3	9	4985949	G	A	ENST00000381652	ENSG00000096968	4985033	5128183	ENSP00000371067	JAK2	1	JAK2_HUMAN	-	-	5'_UTR	NA	-	-	lod=80:437	-	-	-	hom	1
4	9	4985949	G	A	ENST00000476574	ENSG00000096968	4985033	5128183	-	JAK2	1	-	c.151G>A	p.A51T	non-syn	NA	-	-	lod=80:437	-	-	-	hom	1
5	9	5022042	A	G	ENST00000381652	ENSG00000096968	4985033	5128183	ENSP00000371067	JAK2	1	JAK2_HUMAN	c.55A>G	p.I19V	non-syn	rs150159583	0.0014	G=1/A=8599;G=0/A=4406;G=1/A=13005	-	TOLERATED	B	-	het	1
6	9	5022042	A	G	ENST00000476574	ENSG00000096968	4985033	5128183	-	JAK2	1	-	c.304A>G	p.I102V	non-syn	rs150159583	0.0014	G=1/A=8599;G=0/A=4406;G=1/A=13005	-	TOLERATED	B	-	het	1
7	9	5022042	A	G	ENST00000539801	ENSG00000096968	4985033	5128183	ENSP00000440387	JAK2	1	JAK2_HUMAN	c.55A>G	p.I19V	non-syn	rs150159583	0.0014	G=1/A=8599;G=0/A=4406;G=1/A=13005	-	TOLERATED	B	-	het	1
8	9	5022130	G	A	ENST00000381652	ENSG00000096968	4985033	5128183	ENSP00000371067	JAK2	1	JAK2_HUMAN	c.143G>A	p.G48E	non-syn	rs143227399	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=62:410	TOLERATED	B	-	het	2
9	9	5022130	G	A	ENST00000539801	ENSG00000096968	4985033	5128183	ENSP00000440387	JAK2	1	JAK2_HUMAN	c.143G>A	p.G48E	non-syn	rs143227399	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=62:410	TOLERATED	B	-	het	2
10	9	5029893	C	G	ENST00000381652	ENSG00000096968	4985033	5128183	ENSP00000371067	JAK2	1	JAK2_HUMAN	c.337C>G	p.L113V	non-syn	rs143103233	-	G=19/C=8581;G=1/C=4405;G=20/C=12986	lod=109:471	TOLERATED	B	-	het	1
11	9	5029893	C	G	ENST00000539801	ENSG00000096968	4985033	5128183	ENSP00000440387	JAK2	1	JAK2_HUMAN	c.337C>G	p.L113V	non-syn	rs143103233	-	G=19/C=8581;G=1/C=4405;G=20/C=12986	lod=109:471	TOLERATED	B	-	het	1
12	9	5041690	C	G	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	rs72699590	0.3618	-	lod=136:494	-	-	-	hom	7
13	9	5041743	C	G	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
14	9	5041756	C	G	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	rs138550192	0.0286	-	-	-	-	-	het	2
15	9	5041822	G	A	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1
16	9	5041840	G	T	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	NA	-	-	lod=82:440	-	-	-	het	1
17	9	5041869	G	A	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	NA	-	-	lod=158:510	-	-	-	het	2
18	9	5041886	C	G	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	5'_UTR	NA	-	-	lod=158:510	-	-	-	het	1
19	9	5041923	A	T	ENST00000544510	ENSG00000096968	4985033	5128183	ENSP00000443103	JAK2	1	-	-	-	+16bp 5'_splice_site	NA	-	-	lod=158:510	-	-	-	het	1
20	9	5044540	C	T	ENST00000381652	ENSG00000096968	4985033	5128183	ENSP00000371067	JAK2	1	JAK2_HUMAN	-	-	+20bp 5'_splice_site	rs201672634	-	T=14/C=8586;T=2/C=4404;T=16/C=12990	-	-	-	-	het	1

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding JAK2 9:4985033..5128183 region Gbrowse