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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 IRAK3:

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
ENSG00000090376	IRAK3	0	0	2	ENSG00000090376	ENST00000261233	ENSP00000261233	interleukin-1 receptor-associated kinase 3 [Source:HGNC Symbol;Acc:17020]	12	66582659	66648402	1	q14.3	66582659	66648402	IRAK3	IRAK3-001	HGNC Symbol	HGNC transcript name	3	40.1	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	11213	17020	IRAK3	NM_007199	27519

MSeqDR Master Exome Data Set M1: 124 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	12	66582921	C	G	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	-	-	5'_UTR	NA	-	-	lod=19:284	-	-	-	het	2
2	12	66590732	A	G	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	c.206A>G	p.Y69C	non-syn	rs1168773	0.2108	-	lod=36:352	-	-	-	het	14
3	12	66590782	G	A	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	c.256G>A	p.E86K	non-syn	rs11465944	0.0422	-	lod=43:371	-	-	-	het	54
4	12	66590782	G	A	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	c.256G>A	p.E86K	non-syn	rs11465944	0.0422	-	lod=43:371	-	-	-	hom	1
5	12	66591042	T	A	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs112196656	0.02222	-	-	-	-	-	het	15
6	12	66591258	A	G	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs77784631	0.0456	-	-	-	-	-	het	2
7	12	66591487	A	G	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs1168774	0.762	-	-	-	-	-	het	97
8	12	66591487	A	G	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs1168774	0.762	-	-	-	-	-	hom	37
9	12	66591582	G	C	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs4762088	0.29068	-	-	-	-	-	het	76
10	12	66591582	G	C	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs4762088	0.29068	-	-	-	-	-	hom	16
11	12	66591693	C	+A	ENST00000545837	ENSG00000090376	66582659	66648402	ENSP00000441321	IRAK3	1	-	-	-	3'_UTR	rs138350038	-	-	-	-	-	-	het	7
12	12	66597523	C	T	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.166C>T	p.R56C	non-syn	rs201109976	-	-	lod=429:617	DAMAGING	D	-	het	1
13	12	66597527	A	G	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.170A>G	p.H57R	non-syn	rs35239505	0.0108	G=127/A=8473;G=18/A=4388;G=145/A=12861	lod=429:617	TOLERATED	D	-	het	21
14	12	66597527	A	G	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.170A>G	p.H57R	non-syn	rs35239505	0.0108	G=127/A=8473;G=18/A=4388;G=145/A=12861	lod=429:617	TOLERATED	D	-	hom	1
15	12	66597644	G	A	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.287G>A	p.R96H	non-syn	rs145220063	-	A=10/G=8590;A=3/G=4403;A=13/G=12993	lod=429:617	TOLERATED	B	-	het	3
16	12	66597693	A	G	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	-	-	+20bp 5'_splice_site	rs200025025	-	G=3/A=8597;G=0/A=4406;G=3/A=13003	-	-	-	-	het	1
17	12	66603945	G	A	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.400G>A	p.V134M	non-syn	rs138559915	-	A=16/G=8584;A=2/G=4402;A=18/G=12986	lod=20:289	DAMAGING	B	-	het	2
18	12	66603945	G	A	ENST00000457197	ENSG00000090376	66582659	66648402	ENSP00000409852	IRAK3	1	IRAK3_HUMAN	c.217G>A	p.V73M	non-syn	rs138559915	-	A=16/G=8584;A=2/G=4402;A=18/G=12986	lod=20:289	DAMAGING	B	-	het	2
19	12	66603980	A	G	ENST00000261233	ENSG00000090376	66582659	66648402	ENSP00000261233	IRAK3	1	IRAK3_HUMAN	c.435A>G	p.K145K	syn	rs56001649	0.01076	G=136/A=8460;G=12/A=4390;G=148/A=12850	lod=32:340	-	-	-	het	6
20	12	66603980	A	G	ENST00000457197	ENSG00000090376	66582659	66648402	ENSP00000409852	IRAK3	1	IRAK3_HUMAN	c.252A>G	p.K84K	syn	rs56001649	0.01076	G=136/A=8460;G=12/A=4390;G=148/A=12850	lod=32:340	-	-	-	het	6

** 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 IRAK3 12:66582659..66648402 region Gbrowse