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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 ENSG00000073009:

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
ENSG00000073009	IKBKG	0	0	27	ENSG00000073009	ENST00000470142	ENSP00000420565	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma [Source:HGNC Symbol;Acc:5961]	X	153769414	153796782	1	q28	153775853	153795804	IKBKG	IKBKG-014	HGNC Symbol	HGNC transcript name	17	55.97	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	8517	5961	IKBKG		27516

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	X	153770574	G	A	ENST00000369607	ENSG00000073009	153769414	153796782	ENSP00000358620	IKBKG	1	NEMO_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
2	X	153770574	G	A	ENST00000369609	ENSG00000073009	153769414	153796782	ENSP00000358622	IKBKG	1	NEMO_HUMAN	c.96G>A	p.K32K	syn	NA	-	-	-	-	-	-	hom	1
3	X	153770574	G	A	ENST00000422680	ENSG00000073009	153769414	153796782	ENSP00000390368	IKBKG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
4	X	153770634	A	G	ENST00000369609	ENSG00000073009	153769414	153796782	ENSP00000358622	IKBKG	1	NEMO_HUMAN	c.156A>G	p.L52L	syn	NA	-	G=0/A=5498;G=4/A=2623;G=4/A=8121	-	-	-	-	het	1
5	X	153770634	A	G	ENST00000369609	ENSG00000073009	153769414	153796782	ENSP00000358622	IKBKG	1	NEMO_HUMAN	c.156A>G	p.L52L	syn	NA	-	G=0/A=5498;G=4/A=2623;G=4/A=8121	-	-	-	-	hom	1
6	X	153770634	A	G	ENST00000422680	ENSG00000073009	153769414	153796782	ENSP00000390368	IKBKG	1	-	-	-	5'_UTR	NA	-	G=0/A=5498;G=4/A=2623;G=4/A=8121	-	-	-	-	het	1
7	X	153770634	A	G	ENST00000422680	ENSG00000073009	153769414	153796782	ENSP00000390368	IKBKG	1	-	-	-	5'_UTR	NA	-	G=0/A=5498;G=4/A=2623;G=4/A=8121	-	-	-	-	hom	1
8	X	153770679	G	A	ENST00000369609	ENSG00000073009	153769414	153796782	ENSP00000358622	IKBKG	1	NEMO_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
9	X	153770679	G	A	ENST00000422680	ENSG00000073009	153769414	153796782	ENSP00000390368	IKBKG	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
10	X	153774209	G	A	ENST00000445622	ENSG00000073009	153769414	153796782	ENSP00000395205	IKBKG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	X	153774219	G	A	ENST00000445622	ENSG00000073009	153769414	153796782	ENSP00000395205	IKBKG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	X	153780184	T	C	ENST00000263518	ENSG00000073009	153769414	153796782	ENSP00000263518	IKBKG	1	-	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
13	X	153780184	T	C	ENST00000369601	ENSG00000073009	153769414	153796782	ENSP00000358614	IKBKG	1	NEMO_HUMAN	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
14	X	153780184	T	C	ENST00000369602	ENSG00000073009	153769414	153796782	ENSP00000358615	IKBKG	1	NEMO_HUMAN	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
15	X	153780184	T	C	ENST00000369606	ENSG00000073009	153769414	153796782	ENSP00000358619	IKBKG	1	NEMO_HUMAN	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
16	X	153780184	T	C	ENST00000369607	ENSG00000073009	153769414	153796782	ENSP00000358620	IKBKG	1	NEMO_HUMAN	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
17	X	153780184	T	C	ENST00000369609	ENSG00000073009	153769414	153796782	ENSP00000358622	IKBKG	1	NEMO_HUMAN	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
18	X	153780184	T	C	ENST00000393549	ENSG00000073009	153769414	153796782	ENSP00000377180	IKBKG	1	-	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
19	X	153780184	T	C	ENST00000422680	ENSG00000073009	153769414	153796782	ENSP00000390368	IKBKG	1	-	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1
20	X	153780184	T	C	ENST00000440286	ENSG00000073009	153769414	153796782	ENSP00000394934	IKBKG	1	-	-	-	-19bp 3'_splice_site	NA	-	C=2/T=6726;C=1/T=3834;C=3/T=10560	-	-	-	-	het	1

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding IKBKG X:153769414..153796782 region Gbrowse