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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 IRAK4:

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
ENSG00000198001	IRAK4	0	0	2	ENSG00000198001	ENST00000440781	ENSP00000408734	interleukin-1 receptor-associated kinase 4 [Source:HGNC Symbol;Acc:17967]	12	44152747	44183346	1	q12	44152747	44180778	IRAK4	IRAK4-005	HGNC Symbol	HGNC transcript name	13	37.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51135	17967	IRAK4	NM_001145258	27519

MSeqDR Master Exome Data Set M1: 135 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	44162186	T	C	ENST00000546780	ENSG00000198001	44152747	44183346	-	IRAK4	1	-	c.331T>C	p.W111R	non-syn	rs192250093	0.0043	-	-	-	-	-	het	1
2	12	44165152	G	A	ENST00000448290	ENSG00000198001	44152747	44183346	ENSP00000390651	IRAK4	1	IRAK4_HUMAN	c.291G>A	p.A97A	syn	rs17851028	-	A=9/G=8591;A=2/G=4404;A=11/G=12995	lod=106:468	-	-	-	het	1
3	12	44165152	G	A	ENST00000547101	ENSG00000198001	44152747	44183346	ENSP00000449317	IRAK4	1	-	-	-	3'_UTR	rs17851028	-	A=9/G=8591;A=2/G=4404;A=11/G=12995	lod=106:468	-	-	-	het	1
4	12	44165152	G	A	ENST00000550386	ENSG00000198001	44152747	44183346	ENSP00000449848	IRAK4	1	-	-	-	3'_UTR	rs17851028	-	A=9/G=8591;A=2/G=4404;A=11/G=12995	lod=106:468	-	-	-	het	1
5	12	44165152	G	A	ENST00000551736	ENSG00000198001	44152747	44183346	ENSP00000446490	IRAK4	1	IRAK4_HUMAN	c.291G>A	p.A97A	syn	rs17851028	-	A=9/G=8591;A=2/G=4404;A=11/G=12995	lod=106:468	-	-	-	het	1
6	12	44165186	A	G	ENST00000448290	ENSG00000198001	44152747	44183346	ENSP00000390651	IRAK4	1	IRAK4_HUMAN	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	het	22
7	12	44165186	A	G	ENST00000448290	ENSG00000198001	44152747	44183346	ENSP00000390651	IRAK4	1	IRAK4_HUMAN	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	hom	1
8	12	44165186	A	G	ENST00000547101	ENSG00000198001	44152747	44183346	ENSP00000449317	IRAK4	1	-	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	het	22
9	12	44165186	A	G	ENST00000547101	ENSG00000198001	44152747	44183346	ENSP00000449317	IRAK4	1	-	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	hom	1
10	12	44165186	A	G	ENST00000550386	ENSG00000198001	44152747	44183346	ENSP00000449848	IRAK4	1	-	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	het	22
11	12	44165186	A	G	ENST00000550386	ENSG00000198001	44152747	44183346	ENSP00000449848	IRAK4	1	-	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	hom	1
12	12	44165186	A	G	ENST00000551736	ENSG00000198001	44152747	44183346	ENSP00000446490	IRAK4	1	IRAK4_HUMAN	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	het	22
13	12	44165186	A	G	ENST00000551736	ENSG00000198001	44152747	44183346	ENSP00000446490	IRAK4	1	IRAK4_HUMAN	-	-	+18bp 5'_splice_site	rs118097313	0.0266	G=48/A=8552;G=24/A=4382;G=72/A=12934	-	-	-	-	hom	1
14	12	44165993	C	G	ENST00000431837	ENSG00000198001	44152747	44183346	ENSP00000390327	IRAK4	1	IRAK4_HUMAN	-	-	5'_UTR	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
15	12	44165993	C	G	ENST00000440781	ENSG00000198001	44152747	44183346	ENSP00000408734	IRAK4	1	IRAK4_HUMAN	-	-	5'_UTR	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
16	12	44165993	C	G	ENST00000448290	ENSG00000198001	44152747	44183346	ENSP00000390651	IRAK4	1	IRAK4_HUMAN	c.318C>G	p.P106P	syn	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
17	12	44165993	C	G	ENST00000547101	ENSG00000198001	44152747	44183346	ENSP00000449317	IRAK4	1	-	-	-	3'_UTR	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
18	12	44165993	C	G	ENST00000547521	ENSG00000198001	44152747	44183346	ENSP00000449693	IRAK4	1	-	c.172C>G	p.Q58E	non-syn	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
19	12	44165993	C	G	ENST00000550361	ENSG00000198001	44152747	44183346	ENSP00000449859	IRAK4	1	-	c.172C>G	p.Q58E	non-syn	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8
20	12	44165993	C	G	ENST00000550386	ENSG00000198001	44152747	44183346	ENSP00000449848	IRAK4	1	-	-	-	3'_UTR	rs56338336	0.00723	G=62/C=8538;G=9/C=4397;G=71/C=12935	lod=35:349	-	-	-	het	8

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Transcripts and variants in the surrounding IRAK4 12:44152747..44183346 region Gbrowse