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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 CDC73:

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
ENSG00000134371	CDC73	0	0	25	ENSG00000134371	ENST00000367435	ENSP00000356405	cell division cycle 73 [Source:HGNC Symbol;Acc:16783]	1	193091147	193223031	1	q31.2	193091147	193223031	CDC73	CDC73-001	HGNC Symbol	HGNC transcript name	3	35.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	79577	16783	CDC73	NM_024529	27511

MSeqDR Master Exome Data Set M1: 45 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	193091204	G	A	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	5'_UTR	NA	-	-	lod=38:358	-	-	-	het	3
2	1	193091236	G	A	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	5'_UTR	rs143969598	0.0026	-	-	-	-	-	het	4
3	1	193091319	A	-G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	1	193091319	A	+G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	7
5	1	193091320	G	A	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	5'_UTR	rs80356643	-	-	-	-	-	-	het	3
6	1	193091363	C	T	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.33C>T	p.Y11Y	syn	rs150951102	-	T=10/C=8590;T=0/C=4406;T=10/C=12996	lod=660:663	-	-	-	het	2
7	1	193104505	C	A	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	-16bp 3'_splice_site	rs201766013	-	A=1/C=8599;A=29/C=4377;A=30/C=12976	lod=14:251	-	-	-	het	1
8	1	193104505	C	A	ENST00000482484	ENSG00000134371	193091147	193223031	-	CDC73	1	-	-	-	-16bp 3'_splice_site	rs201766013	-	A=1/C=8599;A=29/C=4377;A=30/C=12976	lod=14:251	-	-	-	het	1
9	1	193104600	A	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	+17bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
10	1	193104600	A	G	ENST00000482484	ENSG00000134371	193091147	193223031	-	CDC73	1	-	-	-	+17bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
11	1	193119481	A	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.876A>G	p.R292R	syn	NA	-	-	lod=386:606	-	-	-	het	1
12	1	193119487	T	C	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.882T>C	p.D294D	syn	rs112540003	-	-	lod=386:606	-	-	-	het	2
13	1	193121567	C	A	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.965C>A	p.S322Y	non-syn	NA	-	-	lod=101:462	DAMAGING	D	-	het	1
14	1	193172965	A	C	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.1013A>C	p.Q338P	non-syn	NA	-	-	lod=137:495	TOLERATED	B	-	het	2
15	1	193181196	T	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.1032T>G	p.V344V	syn	rs148612206	-	G=8/T=8580;G=0/T=4388;G=8/T=12968	lod=298:578	-	-	-	het	3
16	1	193202153	A	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	c.1185A>G	p.Q395Q	syn	rs116358657	0.0142	G=1/A=8599;G=72/A=4334;G=73/A=12933	lod=280:571	-	-	-	het	1
17	1	193218843	C	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	-17bp 3'_splice_site	rs11583414	0.07369	G=777/C=7821;G=89/C=4317;G=866/C=12138	-	-	-	-	het	121
18	1	193218843	C	G	ENST00000367435	ENSG00000134371	193091147	193223031	ENSP00000356405	CDC73	1	CDC73_HUMAN	-	-	-17bp 3'_splice_site	rs11583414	0.07369	G=777/C=7821;G=89/C=4317;G=866/C=12138	-	-	-	-	hom	7
19	1	193218843	C	G	ENST00000477868	ENSG00000134371	193091147	193223031	-	CDC73	1	-	-	-	-17bp 3'_splice_site	rs11583414	0.07369	G=777/C=7821;G=89/C=4317;G=866/C=12138	-	-	-	-	het	121
20	1	193218843	C	G	ENST00000477868	ENSG00000134371	193091147	193223031	-	CDC73	1	-	-	-	-17bp 3'_splice_site	rs11583414	0.07369	G=777/C=7821;G=89/C=4317;G=866/C=12138	-	-	-	-	hom	7

** 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 CDC73 1:193091147..193223031 region Gbrowse