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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 DHODH:

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
ENSG00000102967	DHODH	1	0	10	ENSG00000102967	ENST00000572887	ENSP00000461848	dihydroorotate dehydrogenase (quinone) [Source:HGNC Symbol;Acc:2867]	16	72042487	72058954	1	q22.2	72042487	72058948	DHODH	DHODH-002	HGNC Symbol	HGNC transcript name	9	49.81	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1723	2867	DHODH		27514

MSeqDR Master Exome Data Set M1: 107 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	16	72042508	G	A	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
2	16	72042579	G	A	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	NA	0.0037	A=18/G=3164;A=4/G=1380;A=22/G=4544	-	-	-	-	het	7
3	16	72042581	G	A	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	NA	-	A=19/G=3163;A=4/G=1380;A=23/G=4543	-	-	-	-	het	7
4	16	72042612	C	T	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	rs138009379	0.0023	T=18/C=5896;T=1/C=2529;T=19/C=8425	-	-	-	-	het	2
5	16	72042635	A	G	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	rs34270657	0.0783	G=641/A=6851;G=58/A=3468;G=699/A=10319	-	-	-	-	het	102
6	16	72042635	A	G	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	rs34270657	0.0783	G=641/A=6851;G=58/A=3468;G=699/A=10319	-	-	-	-	hom	9
7	16	72042653	A	G	ENST00000219240	ENSG00000102967	72042487	72058954	ENSP00000219240	DHODH	1	PYRD_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	16	72042653	A	G	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	16	72042682	A	C	ENST00000219240	ENSG00000102967	72042487	72058954	ENSP00000219240	DHODH	1	PYRD_HUMAN	c.19A>C	p.K7Q	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	hom	253
10	16	72042682	A	C	ENST00000219240	ENSG00000102967	72042487	72058954	ENSP00000219240	DHODH	1	PYRD_HUMAN	c.19A>C	p.K7Q	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	het	365
11	16	72042682	A	C	ENST00000571288	ENSG00000102967	72042487	72058954	ENSP00000464249	DHODH	1	-	c.6A>C	p.*2C	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	hom	253
12	16	72042682	A	C	ENST00000571288	ENSG00000102967	72042487	72058954	ENSP00000464249	DHODH	1	-	c.6A>C	p.*2C	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	het	365
13	16	72042682	A	C	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	c.19A>C	p.K7Q	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	hom	253
14	16	72042682	A	C	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	c.19A>C	p.K7Q	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	het	365
15	16	72042682	A	C	ENST00000574309	ENSG00000102967	72042487	72058954	ENSP00000460966	DHODH	1	-	c.15A>C	p.*5C	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	hom	253
16	16	72042682	A	C	ENST00000574309	ENSG00000102967	72042487	72058954	ENSP00000460966	DHODH	1	-	c.15A>C	p.*5C	non-syn	rs3213422	0.6442	C=4234/A=3824;C=2268/A=1612;C=6502/A=5436	lod=64:414	TOLERATED	B	-	het	365
17	16	72042686	T	C	ENST00000219240	ENSG00000102967	72042487	72058954	ENSP00000219240	DHODH	1	PYRD_HUMAN	-	-	+2bp 5'_splice_site	NA	-	-	lod=64:414	-	-	-	het	1
18	16	72042686	T	C	ENST00000571288	ENSG00000102967	72042487	72058954	ENSP00000464249	DHODH	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=64:414	-	-	-	het	1
19	16	72042686	T	C	ENST00000572887	ENSG00000102967	72042487	72058954	ENSP00000461848	DHODH	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=64:414	-	-	-	het	1
20	16	72042686	T	C	ENST00000574309	ENSG00000102967	72042487	72058954	ENSP00000460966	DHODH	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=64:414	-	-	-	het	1

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Transcripts and variants in the surrounding DHODH 16:72042487..72058954 region Gbrowse