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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 IFIH1:

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
ENSG00000115267	IFIH1	0	0	11	ENSG00000115267	ENST00000263642	ENSP00000263642	interferon induced with helicase C domain 1 [Source:HGNC Symbol;Acc:18873]	2	163123589	163175213	-1	q24.2	163123589	163175213	IFIH1	IFIH1-001	HGNC Symbol	HGNC transcript name	3	35.76	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	64135	18873	IFIH1	NM_022168	27508

MSeqDR Master Exome Data Set M1: 75 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	2	163123704	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	-	-	3'_UTR	rs11891191	0.2708	T=7/C=8491;T=1356/C=3036;T=1363/C=11527	-	-	-	-	het	20
2	2	163123704	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	-	-	3'_UTR	rs11891191	0.2708	T=7/C=8491;T=1356/C=3036;T=1363/C=11527	-	-	-	-	hom	5
3	2	163123826	C	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2962G>T	p.V988L	non-syn	rs74162090	-	A=1/C=8599;A=0/C=4404;A=1/C=13003	lod=296:577	DAMAGING	P	-	het	1
4	2	163123842	G	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2946C>T	p.L982L	syn	rs74162089	0.0042	A=9/G=8591;A=20/G=4386;A=29/G=12977	lod=296:577	-	-	-	het	10
5	2	163123842	G	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2946C>T	p.L982L	syn	rs74162089	0.0042	A=9/G=8591;A=20/G=4386;A=29/G=12977	lod=296:577	-	-	-	hom	2
6	2	163124024	G	C	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2863C>G	p.Q955E	non-syn	rs144455277	0.00181	C=7/G=8591;C=1/G=4405;C=8/G=12996	lod=72:426	TOLERATED	B	-	het	1
7	2	163124051	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2836G>A	p.A946T	non-syn	rs1990760	0.54037	T=5185/C=3415;T=816/C=3590;T=6001/C=7005	lod=69:422	TOLERATED	B	Diabetes, type 1, assoc. with	het	477
8	2	163124051	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2836G>A	p.A946T	non-syn	rs1990760	0.54037	T=5185/C=3415;T=816/C=3590;T=6001/C=7005	lod=69:422	TOLERATED	B	Diabetes, type 1, assoc. with	hom	311
9	2	163124596	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	-	-	+1bp 5'_splice_site	rs35732034	0.01	T=65/C=8535;T=5/C=4401;T=70/C=12936	lod=68:420	-	-	HGMD	het	22
10	2	163124619	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2785G>A	p.V929I	non-syn	rs140562355	-	T=3/C=8597;T=25/C=4381;T=28/C=12978	lod=143:500	DAMAGING	D	-	het	3
11	2	163124637	T	C	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2767A>G	p.I923V	non-syn	rs35667974	0.00639	C=140/T=8460;C=11/T=4395;C=151/T=12855	lod=143:500	TOLERATED	B	Reduced activity, association with	het	23
12	2	163124722	C	T	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2682G>A	p.K894K	syn	NA	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=17:272	-	-	-	het	2
13	2	163128725	A	G	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	-	-	+11bp 5'_splice_site	rs3747518	0.3898	G=121/A=8479;G=1815/A=2591;G=1936/A=11070	-	-	-	-	het	65
14	2	163128725	A	G	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	-	-	+11bp 5'_splice_site	rs3747518	0.3898	G=121/A=8479;G=1815/A=2591;G=1936/A=11070	-	-	-	-	hom	15
15	2	163128755	G	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2597C>T	p.P866L	non-syn	rs200833729	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=93:454	TOLERATED	P	-	het	1
16	2	163128779	A	G	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2573T>C	p.I858T	non-syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=245:557	DAMAGING	D	-	het	1
17	2	163128824	T	C	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2528A>G	p.H843R	non-syn	rs3747517	0.72635	C=6244/T=2356;C=2751/T=1655;C=8995/T=4011	lod=245:557	TOLERATED	B	Colorectal cancer, increased risk, assoc. with	hom	524
18	2	163128824	T	C	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2528A>G	p.H843R	non-syn	rs3747517	0.72635	C=6244/T=2356;C=2751/T=1655;C=8995/T=4011	lod=245:557	TOLERATED	B	Colorectal cancer, increased risk, assoc. with	het	437
19	2	163128883	G	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2469C>T	p.A823A	syn	rs13418718	0.3017	A=7/G=8593;A=1416/G=2990;A=1423/G=11583	lod=188:529	-	-	-	het	19
20	2	163128883	G	A	ENST00000263642	ENSG00000115267	163123589	163175213	ENSP00000263642	IFIH1	-1	IFIH1_HUMAN	c.2469C>T	p.A823A	syn	rs13418718	0.3017	A=7/G=8593;A=1416/G=2990;A=1423/G=11583	lod=188:529	-	-	-	hom	5

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Transcripts and variants in the surrounding IFIH1 2:163123589..163175213 region Gbrowse