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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 GMPPB:

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
ENSG00000173540	GMPPB	1	0	11	ENSG00000173540	ENST00000480687	ENSP00000418565	GDP-mannose pyrophosphorylase B [Source:HGNC Symbol;Acc:22932]	3	49754277	49761384	-1	p21.31	49754277	49761384	GMPPB	GMPPB-001	HGNC Symbol	HGNC transcript name	5	61.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	386724	22932	GMPPB		27517

MSeqDR Master Exome Data Set M1: 154 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	3	49754320	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	3	49754336	A	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	3	49754342	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs150374322	0.0148	-	-	-	-	-	het	2
4	3	49754523	A	G	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	3	49754538	G	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	3	49754902	C	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs189486260	0.0117	-	-	-	-	-	het	3
7	3	49754932	C	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	3	49754961	C	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs138066462	0.0024	-	-	-	-	-	het	3
9	3	49754970	T	C	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs7628207	0.8333	-	-	-	-	-	het	173
10	3	49754970	T	C	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs7628207	0.8333	-	-	-	-	-	hom	462
11	3	49755124	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	3	49755271	T	+G	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	3	49755278	C	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs78079533	0.0059	-	-	-	-	-	het	7
14	3	49755405	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs148158961	0.0025	A=23/G=8577;A=1/G=4405;A=24/G=12982	lod=22:300	-	-	-	het	9
15	3	49755481	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs140027250	-	A=12/G=8588;A=2/G=4404;A=14/G=12992	-	TOLERATED	B	-	het	4
16	3	49755558	C	G	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs149103139	-	G=8/C=8592;G=0/C=4406;G=8/C=12998	lod=152:506	TOLERATED	D	-	het	3
17	3	49755697	T	G	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	lod=167:516	DAMAGING	D	-	het	1
18	3	49755767	G	A	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	-	TOLERATED	B	-	het	1
19	3	49756366	T	C	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	NA	-	-	lod=78:435	TOLERATED	B	-	het	1
20	3	49756511	C	T	ENST00000480687	ENSG00000173540	49754277	49761384	ENSP00000418565	GMPPB	-1	GMPPB_HUMAN	-	-	3'_UTR	rs35926560	0.0198	T=0/C=8600;T=151/C=4255;T=151/C=12855	-	TOLERATED	B	-	het	2

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Transcripts and variants in the surrounding GMPPB 3:49754277..49761384 region Gbrowse