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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 JAK3:

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
ENSG00000105639	JAK3	0	0	45	ENSG00000105639	ENST00000527031		Janus kinase 3 [Source:HGNC Symbol;Acc:6193]	19	17935589	17958880	-1	p13.11	17935589	17958800	JAK3	JAK3-004	HGNC Symbol	HGNC transcript name	7	54.93	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	3718	6193	JAK3		27526

MSeqDR Master Exome Data Set M1: 294 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	19	17936259	G	A	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs73014967	0.16113	-	-	-	-	-	het	1
2	19	17937136	C	G	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	19	17937136	C	G	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	19	17937253	G	A	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs201718854	-	-	-	-	-	-	het	6
5	19	17937253	G	A	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs201718854	-	-	-	-	-	-	het	6
6	19	17937300	T	A	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs79044512	0.0568	-	-	-	-	-	het	3
7	19	17937300	T	A	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs79044512	0.0568	-	-	-	-	-	het	3
8	19	17937324	C	-AGAG	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212801	-	-	-	-	-	-	hom	8
9	19	17937324	C	-AGAG	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212801	-	-	-	-	-	-	het	147
10	19	17937324	C	-AGAG	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212801	-	-	-	-	-	-	hom	8
11	19	17937324	C	-AGAG	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212801	-	-	-	-	-	-	het	147
12	19	17937414	C	G	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212800	0.0123	-	-	-	-	-	het	7
13	19	17937414	C	G	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212800	0.0123	-	-	-	-	-	het	7
14	19	17937429	A	G	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3008	0.4485	-	-	-	-	-	het	414
15	19	17937429	A	G	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3008	0.4485	-	-	-	-	-	hom	200
16	19	17937429	A	G	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3008	0.4485	-	-	-	-	-	het	414
17	19	17937429	A	G	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3008	0.4485	-	-	-	-	-	hom	200
18	19	17937479	A	G	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs149873298	0.0054	-	-	-	-	-	het	17
19	19	17937479	A	G	ENST00000527670	ENSG00000105639	17935589	17958880	ENSP00000432511	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs149873298	0.0054	-	-	-	-	-	het	17
20	19	17937516	C	T	ENST00000458235	ENSG00000105639	17935589	17958880	ENSP00000391676	JAK3	-1	JAK3_HUMAN	-	-	3'_UTR	rs3212799	0.0333	T=16/C=8584;T=243/C=4163;T=259/C=12747	-	-	-	-	het	7

** 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 JAK3 19:17935589..17958880 region Gbrowse