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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 PLEKHM1:

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
ENSG00000225190	PLEKHM1	0	0	1	ENSG00000225190	ENST00000580404		pleckstrin homology domain containing, family M (with RUN domain) member 1 [Source:HGNC Symbol;Acc:29017]	17	43513266	43568115	-1	q21.31	43513269	43523639	PLEKHM1	PLEKHM1-008	HGNC Symbol	HGNC transcript name	19	50.52	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	9842	29017	PLEKHM1		27509
ENSG00000257339	PLEKHM1	0	0	1	ENSG00000257339	ENST00000547603	ENSP00000448185	hsa-mir-4315-1 [Source:miRBase;Acc:MI0015844]	HSCHR17_1	43513192	43568077	-1	q21.31	43513192	43568077	PLEKHM1	PLEKHM1-202	UniProtKB Gene Name	UniProt transcript name	3	50.51	protein_coding	protein_coding	ensembl	ensembl	KNOWN	KNOWN	9842	29017			27803

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MSeqDR Master Exome Data Set M1: 282 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	17	43513441	C	T	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	het	187
2	17	43513441	C	T	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	hom	19
3	17	43513441	C	T	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	het	187
4	17	43513441	C	T	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	hom	19
5	17	43513441	C	T	ENST00000579197	ENSG00000225190	43513266	43568115	ENSP00000462282	PLEKHM1	-1	-	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	het	187
6	17	43513441	C	T	ENST00000579197	ENSG00000225190	43513266	43568115	ENSP00000462282	PLEKHM1	-1	-	-	-	3'_UTR	rs11012	0.16897	-	-	TOLERATED	-	HGMD	hom	19
7	17	43513441	C	T	ENST00000580404	ENSG00000225190	43513266	43568115	-	PLEKHM1	-1	-	c.2456G>A	p.R819H	non-syn	rs11012	0.16897	-	-	TOLERATED	-	HGMD	het	187
8	17	43513441	C	T	ENST00000580404	ENSG00000225190	43513266	43568115	-	PLEKHM1	-1	-	c.2456G>A	p.R819H	non-syn	rs11012	0.16897	-	-	TOLERATED	-	HGMD	hom	19
9	17	43513518	C	T	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	17	43513518	C	T	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	17	43513518	C	T	ENST00000579197	ENSG00000225190	43513266	43568115	ENSP00000462282	PLEKHM1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	17	43513518	C	T	ENST00000580404	ENSG00000225190	43513266	43568115	-	PLEKHM1	-1	-	c.2379G>A	p.S793S	syn	NA	-	-	-	-	-	-	het	1
13	17	43513523	G	A	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
14	17	43513523	G	A	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
15	17	43513523	G	A	ENST00000579197	ENSG00000225190	43513266	43568115	ENSP00000462282	PLEKHM1	-1	-	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
16	17	43513523	G	A	ENST00000580404	ENSG00000225190	43513266	43568115	-	PLEKHM1	-1	-	c.2374C>T	p.P792S	non-syn	NA	-	-	-	TOLERATED	-	-	het	1
17	17	43513551	C	G	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	rs9730	0.1883	-	-	-	-	-	het	134
18	17	43513551	C	G	ENST00000421073	ENSG00000225190	43513266	43568115	ENSP00000414352	PLEKHM1	-1	-	-	-	3'_UTR	rs9730	0.1883	-	-	-	-	-	hom	22
19	17	43513551	C	G	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	rs9730	0.1883	-	-	-	-	-	het	134
20	17	43513551	C	G	ENST00000430334	ENSG00000225190	43513266	43568115	ENSP00000389913	PLEKHM1	-1	PKHM1_HUMAN	-	-	3'_UTR	rs9730	0.1883	-	-	-	-	-	hom	22

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding PLEKHM1 17:43513266..43568115 region Gbrowse