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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 ENSG00000021826:

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
ENSG00000021826	CPS1	1	210	27	ENSG00000021826	ENST00000417946	ENSP00000388496	carbamoyl-phosphate synthase 1, mitochondrial [Source:HGNC Symbol;Acc:2323]	2	211342406	211543831	1	q34	211342406	211441198	CPS1	CPS1-002	HGNC Symbol	HGNC transcript name	11	36.31	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1373	2323	CPS1		27508

MSeqDR Master Exome Data Set M1: 394 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	211342413	T	C	ENST00000417946	ENSG00000021826	211342406	211543831	ENSP00000388496	CPS1	1	-	-	-	5'_UTR	rs187487015	0.0014	-	-	-	-	-	het	1
2	2	211342413	T	C	ENST00000518043	ENSG00000021826	211342406	211543831	ENSP00000430697	CPS1	1	-	-	-	5'_UTR	rs187487015	0.0014	-	-	-	-	-	het	1
3	2	211342472	G	A	ENST00000417946	ENSG00000021826	211342406	211543831	ENSP00000388496	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	het	35
4	2	211342472	G	A	ENST00000417946	ENSG00000021826	211342406	211543831	ENSP00000388496	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	hom	1
5	2	211342472	G	A	ENST00000430249	ENSG00000021826	211342406	211543831	ENSP00000402608	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	het	35
6	2	211342472	G	A	ENST00000430249	ENSG00000021826	211342406	211543831	ENSP00000402608	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	hom	1
7	2	211342472	G	A	ENST00000518043	ENSG00000021826	211342406	211543831	ENSP00000430697	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	het	35
8	2	211342472	G	A	ENST00000518043	ENSG00000021826	211342406	211543831	ENSP00000430697	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	hom	1
9	2	211342472	G	A	ENST00000523702	ENSG00000021826	211342406	211543831	ENSP00000430644	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	het	35
10	2	211342472	G	A	ENST00000523702	ENSG00000021826	211342406	211543831	ENSP00000430644	CPS1	1	-	-	-	5'_UTR	rs111491997	0.0247	A=127/G=7037;A=7/G=3129;A=134/G=10166	-	-	-	-	hom	1
11	2	211342502	G	A	ENST00000417946	ENSG00000021826	211342406	211543831	ENSP00000388496	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	het	457
12	2	211342502	G	A	ENST00000417946	ENSG00000021826	211342406	211543831	ENSP00000388496	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	hom	217
13	2	211342502	G	A	ENST00000430249	ENSG00000021826	211342406	211543831	ENSP00000402608	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	het	457
14	2	211342502	G	A	ENST00000430249	ENSG00000021826	211342406	211543831	ENSP00000402608	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	hom	217
15	2	211342502	G	A	ENST00000518043	ENSG00000021826	211342406	211543831	ENSP00000430697	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	het	457
16	2	211342502	G	A	ENST00000518043	ENSG00000021826	211342406	211543831	ENSP00000430697	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	hom	217
17	2	211342502	G	A	ENST00000523702	ENSG00000021826	211342406	211543831	ENSP00000430644	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	het	457
18	2	211342502	G	A	ENST00000523702	ENSG00000021826	211342406	211543831	ENSP00000430644	CPS1	1	-	-	-	+12bp 5'_splice_site	rs17552879	0.50653	A=3572/G=3592;A=832/G=2304;A=4404/G=5896	-	-	-	-	hom	217
19	2	211421264	G	A	ENST00000233072	ENSG00000021826	211342406	211543831	ENSP00000233072	CPS1	1	CPSM_HUMAN	-	-	5'_UTR	rs6732642	0.0692	-	lod=48:383	-	-	-	het	3
20	2	211421330	G	A	ENST00000233072	ENSG00000021826	211342406	211543831	ENSP00000233072	CPS1	1	CPSM_HUMAN	-	-	5'_UTR	rs182021022	0.00929	-	lod=31:336	-	-	-	het	10

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Transcripts and variants in the surrounding CPS1 2:211342406..211543831 region Gbrowse