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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 PITPNM3:

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
ENSG00000091622	PITPNM3	0	0	11	ENSG00000091622	ENST00000421306	ENSP00000407882	PITPNM family member 3 [Source:HGNC Symbol;Acc:21043]	17	6354584	6459814	-1	p13.2	6354584	6459780	PITPNM3	PITPNM3-002	HGNC Symbol	HGNC transcript name	5	51.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	83394	21043	PITPNM3	NM_001165966	27509

MSeqDR Master Exome Data Set M1: 393 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	6354616	C	T	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	17	6354616	C	T	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	17	6354780	C	T	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs56787229	0.1228	-	lod=23:304	-	-	-	het	6
4	17	6354780	C	T	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs56787229	0.1228	-	lod=23:304	-	-	-	het	6
5	17	6354884	G	A	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	17	6354884	G	A	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	17	6354924	C	T	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs145961702	0.0046	-	-	-	-	-	het	1
8	17	6354924	C	T	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs145961702	0.0046	-	-	-	-	-	het	1
9	17	6354965	T	C	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs3169862	0.5591	-	-	-	-	-	het	300
10	17	6354965	T	C	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs3169862	0.5591	-	-	-	-	-	hom	264
11	17	6354965	T	C	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs3169862	0.5591	-	-	-	-	-	het	300
12	17	6354965	T	C	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs3169862	0.5591	-	-	-	-	-	hom	264
13	17	6354973	T	G	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	17	6354973	T	G	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	17	6355102	G	-T	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs61555153	-	-	-	-	-	-	hom	500
16	17	6355102	G	-T	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs61555153	-	-	-	-	-	-	het	155
17	17	6355102	G	-T	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs61555153	-	-	-	-	-	-	hom	500
18	17	6355102	G	-T	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs61555153	-	-	-	-	-	-	het	155
19	17	6355117	G	A	ENST00000262483	ENSG00000091622	6354584	6459814	ENSP00000262483	PITPNM3	-1	PITM3_HUMAN	-	-	3'_UTR	rs142047814	0.0159	-	-	-	-	-	het	1
20	17	6355117	G	A	ENST00000421306	ENSG00000091622	6354584	6459814	ENSP00000407882	PITPNM3	-1	-	-	-	3'_UTR	rs142047814	0.0159	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding PITPNM3 17:6354584..6459814 region Gbrowse