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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 ENSG00000173599:

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
ENSG00000173599	PC	1	126	61	ENSG00000173599	ENST00000529047	ENSP00000435905	pyruvate carboxylase [Source:HGNC Symbol;Acc:8636]	11	66615704	66725847	-1	q13.2	66615704	66617812	PC	PC-011	HGNC Symbol	HGNC transcript name	14	51.92	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	5091	8636	PC		27504

MSeqDR Master Exome Data Set M1: 228 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	11	66615739	G	A	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	11	66615900	C	T	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	11	66615900	C	T	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
4	11	66615943	C	T	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	11	66616071	A	T	ENST00000393955	ENSG00000173599	66615704	66725847	ENSP00000377527	PC	-1	PYC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	11	66616071	A	T	ENST00000393958	ENSG00000173599	66615704	66725847	ENSP00000377530	PC	-1	PYC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	11	66616071	A	T	ENST00000393960	ENSG00000173599	66615704	66725847	ENSP00000377532	PC	-1	PYC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	11	66616071	A	T	ENST00000528224	ENSG00000173599	66615704	66725847	-	PC	-1	-	c.966T>A	p.Y322*	non-syn	NA	-	-	-	-	-	-	het	1
9	11	66616071	A	T	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	11	66616264	C	A	ENST00000393955	ENSG00000173599	66615704	66725847	ENSP00000377527	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	het	25
11	11	66616264	C	A	ENST00000393955	ENSG00000173599	66615704	66725847	ENSP00000377527	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	hom	1
12	11	66616264	C	A	ENST00000393958	ENSG00000173599	66615704	66725847	ENSP00000377530	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	het	25
13	11	66616264	C	A	ENST00000393958	ENSG00000173599	66615704	66725847	ENSP00000377530	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	hom	1
14	11	66616264	C	A	ENST00000393960	ENSG00000173599	66615704	66725847	ENSP00000377532	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	het	25
15	11	66616264	C	A	ENST00000393960	ENSG00000173599	66615704	66725847	ENSP00000377532	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	hom	1
16	11	66616264	C	A	ENST00000528224	ENSG00000173599	66615704	66725847	-	PC	-1	-	c.773G>T	p.R258L	non-syn	rs45505701	0.0243	-	-	-	-	-	het	25
17	11	66616264	C	A	ENST00000528224	ENSG00000173599	66615704	66725847	-	PC	-1	-	c.773G>T	p.R258L	non-syn	rs45505701	0.0243	-	-	-	-	-	hom	1
18	11	66616264	C	A	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	het	25
19	11	66616264	C	A	ENST00000529047	ENSG00000173599	66615704	66725847	ENSP00000435905	PC	-1	-	-	-	3'_UTR	rs45505701	0.0243	-	-	-	-	-	hom	1
20	11	66616281	C	T	ENST00000393955	ENSG00000173599	66615704	66725847	ENSP00000377527	PC	-1	PYC_HUMAN	-	-	3'_UTR	rs186152567	0.0059	-	-	-	-	-	het	5

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding PC 11:66615704..66725847 region Gbrowse