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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 IRF6:

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
ENSG00000117595	IRF6	0	0	18	ENSG00000117595	ENST00000367021	ENSP00000355988	interferon regulatory factor 6 [Source:HGNC Symbol;Acc:6121]	1	209959036	209979465	-1	q32.2	209959036	209979389	IRF6	IRF6-001	HGNC Symbol	HGNC transcript name	4	44.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3664	6121	IRF6	NM_006147	27511

MSeqDR Master Exome Data Set M1: 95 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	1	209959077	A	G	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	209959159	A	G	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs7802	-	-	-	-	-	-	het	5
3	1	209959168	C	T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs1856161	0.2961	-	-	-	-	-	het	33
4	1	209959168	C	T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs1856161	0.2961	-	-	-	-	-	hom	7
5	1	209959370	C	+T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs144945364	-	-	-	-	-	-	het	3
6	1	209959446	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	1	209959614	G	T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs1044516	0.4273	-	-	-	-	-	het	183
8	1	209959614	G	T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs1044516	0.4273	-	-	-	-	-	hom	35
9	1	209959627	A	-C	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
10	1	209959872	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs680331	0.77256	-	-	-	-	-	het	177
11	1	209959872	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs680331	0.77256	-	-	-	-	-	hom	465
12	1	209960086	T	-A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs141112353	-	-	-	-	-	-	hom	15
13	1	209960086	T	-A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs141112353	-	-	-	-	-	-	het	185
14	1	209960254	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs114756064	0.017	-	-	-	-	-	het	3
15	1	209960436	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs2235372	0.3961	-	-	-	-	-	het	199
16	1	209960436	G	A	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs2235372	0.3961	-	-	-	-	-	hom	37
17	1	209960449	A	G	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	1	209960498	A	T	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	1	209960500	C	G	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs149425923	0.0132	-	-	-	-	-	het	2
20	1	209960519	G	C	ENST00000367021	ENSG00000117595	209959036	209979465	ENSP00000355988	IRF6	-1	IRF6_HUMAN	-	-	3'_UTR	rs58161850	0.0522	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding IRF6 1:209959036..209979465 region Gbrowse