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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 PTEN:

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
ENSG00000171862	PTEN	0	0	479	ENSG00000171862	ENST00000371953	ENSP00000361021	phosphatase and tensin homolog [Source:HGNC Symbol;Acc:9588]	10	89622870	89731687	1	q23.31	89622870	89731687	PTEN	PTEN-001	HGNC Symbol	HGNC transcript name	5	35.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5728	9588	PTEN	NM_000314	27525

MSeqDR Master Exome Data Set M1: 114 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	10	89622875	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
2	10	89623002	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	10	89623056	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	10	89623084	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	10	89623200	C	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs34149102	-	-	-	-	-	-	het	5
6	10	89623251	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
7	10	89623251	G	C	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	10	89623323	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs1044322	0.0108	-	lod=160:512	-	-	-	hom	3
9	10	89623323	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs1044322	0.0108	-	lod=160:512	-	-	-	het	34
10	10	89623332	T	C	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=160:512	-	-	-	het	1
11	10	89623376	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=432:618	-	-	-	het	1
12	10	89623392	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=432:618	-	-	HGMD	het	1
13	10	89623581	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=432:618	-	-	-	het	4
14	10	89623581	C	T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=432:618	-	-	-	hom	1
15	10	89623636	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs35736544	-	-	-	-	-	-	het	1
16	10	89623678	C	+GCG	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=1183:725	-	-	-	het	23
17	10	89623716	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs12573787	0.2033	-	lod=1183:725	-	-	-	het	146
18	10	89623716	G	A	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs12573787	0.2033	-	lod=1183:725	-	-	-	hom	11
19	10	89623832	A	G	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	NA	-	-	lod=1183:725	-	-	-	het	2
20	10	89623860	C	-T	ENST00000371953	ENSG00000171862	89622870	89731687	ENSP00000361021	PTEN	1	PTEN_HUMAN	-	-	5'_UTR	rs71022512	-	-	lod=1183:725	-	-	-	het	3

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding PTEN 10:89622870..89731687 region Gbrowse