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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 ENSG00000188389:

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
ENSG00000188389	PDCD1	0	0	1	ENSG00000188389	ENST00000334409	ENSP00000335062	programmed cell death 1 [Source:HGNC Symbol;Acc:8760]	2	242792033	242801060	-1	q37.3	242792033	242801060	PDCD1	PDCD1-001	HGNC Symbol	HGNC transcript name	3	63.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5133	8760	PDCD1	NM_005018	27508

MSeqDR Master Exome Data Set M1: 62 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	242792128	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	2	242792207	T	G	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
3	2	242792262	G	A	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs55704165	-	-	-	-	-	-	het	1
4	2	242792321	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs10204525	0.5584	-	-	-	-	-	het	137
5	2	242792321	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs10204525	0.5584	-	-	-	-	-	hom	32
6	2	242792328	G	A	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	2	242792374	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	2	242792590	A	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs41465046	0.0378	-	-	-	-	-	het	1
9	2	242792748	G	A	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs6605260	0.0598	-	-	-	-	-	hom	1
10	2	242792748	G	A	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs6605260	0.0598	-	-	-	-	-	het	5
11	2	242792811	C	G	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	2	242792851	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs6605259	0.0591	-	-	-	-	-	het	3
13	2	242792851	C	T	ENST00000418831	ENSG00000188389	242792033	242801060	ENSP00000390296	PDCD1	-1	-	-	-	3'_UTR	rs6605259	0.0591	-	-	-	-	-	het	3
14	2	242792871	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs55844488	-	-	-	-	-	-	het	5
15	2	242792871	C	T	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	rs55844488	-	-	-	-	-	-	hom	1
16	2	242792871	C	T	ENST00000418831	ENSG00000188389	242792033	242801060	ENSP00000390296	PDCD1	-1	-	-	-	3'_UTR	rs55844488	-	-	-	-	-	-	het	5
17	2	242792871	C	T	ENST00000418831	ENSG00000188389	242792033	242801060	ENSP00000390296	PDCD1	-1	-	-	-	3'_UTR	rs55844488	-	-	-	-	-	-	hom	1
18	2	242792875	G	+GCA	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
19	2	242792875	G	+GCA	ENST00000418831	ENSG00000188389	242792033	242801060	ENSP00000390296	PDCD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
20	2	242792962	C	G	ENST00000334409	ENSG00000188389	242792033	242801060	ENSP00000335062	PDCD1	-1	PDCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding PDCD1 2:242792033..242801060 region Gbrowse