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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 PLS3:

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
ENSG00000268767	PLS3	0	0	3	ENSG00000268767	ENST00000593934	ENSP00000469190	plastin 3 [Source:HGNC Symbol;Acc:9091]	HG1462_PATCH	114797644	114887331	1	q23	114876909	114886172	PLS3	PLS3-205	HGNC Symbol	HGNC transcript name	11	38.9	protein_coding	protein_coding	ensembl_hava	ensembl	KNOWN	KNOWN	5358	9091	PLS3		0
ENSG00000102024	PLS3	0	0	3	ENSG00000102024	ENST00000355899	ENSP00000348163	plastin 3 [Source:HGNC Symbol;Acc:9091]	X	114795501	114885181	1	q23	114795509	114885177	PLS3	PLS3-001	HGNC Symbol	HGNC transcript name	11	38.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5358	9091	PLS3	NM_005032	27516

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MSeqDR Master Exome Data Set M1: 242 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	X	114795541	C	G	ENST00000355899	ENSG00000102024	114795501	114885181	ENSP00000348163	PLS3	1	PLST_HUMAN	-	-	5'_UTR	rs757124	0.4313	-	-	-	-	-	het	3
2	X	114795541	C	G	ENST00000355899	ENSG00000102024	114795501	114885181	ENSP00000348163	PLS3	1	PLST_HUMAN	-	-	5'_UTR	rs757124	0.4313	-	-	-	-	-	hom	1
3	X	114795541	C	G	ENST00000489283	ENSG00000102024	114795501	114885181	ENSP00000420458	PLS3	1	-	-	-	5'_UTR	rs757124	0.4313	-	-	-	-	-	het	3
4	X	114795541	C	G	ENST00000489283	ENSG00000102024	114795501	114885181	ENSP00000420458	PLS3	1	-	-	-	5'_UTR	rs757124	0.4313	-	-	-	-	-	hom	1
5	X	114844535	C	T	ENST00000289290	ENSG00000102024	114795501	114885181	ENSP00000289290	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
6	X	114844535	C	T	ENST00000289290	ENSG00000102024	114795501	114885181	ENSP00000289290	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
7	X	114844535	C	T	ENST00000355899	ENSG00000102024	114795501	114885181	ENSP00000348163	PLS3	1	PLST_HUMAN	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
8	X	114844535	C	T	ENST00000355899	ENSG00000102024	114795501	114885181	ENSP00000348163	PLS3	1	PLST_HUMAN	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
9	X	114844535	C	T	ENST00000420625	ENSG00000102024	114795501	114885181	ENSP00000398945	PLS3	1	PLST_HUMAN	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
10	X	114844535	C	T	ENST00000420625	ENSG00000102024	114795501	114885181	ENSP00000398945	PLS3	1	PLST_HUMAN	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
11	X	114844535	C	T	ENST00000481823	ENSG00000102024	114795501	114885181	ENSP00000419051	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
12	X	114844535	C	T	ENST00000481823	ENSG00000102024	114795501	114885181	ENSP00000419051	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
13	X	114844535	C	T	ENST00000489283	ENSG00000102024	114795501	114885181	ENSP00000420458	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
14	X	114844535	C	T	ENST00000489283	ENSG00000102024	114795501	114885181	ENSP00000420458	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
15	X	114844535	C	T	ENST00000537301	ENSG00000102024	114795501	114885181	ENSP00000445105	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
16	X	114844535	C	T	ENST00000537301	ENSG00000102024	114795501	114885181	ENSP00000445105	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
17	X	114844535	C	T	ENST00000539310	ENSG00000102024	114795501	114885181	ENSP00000445339	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	het	6
18	X	114844535	C	T	ENST00000539310	ENSG00000102024	114795501	114885181	ENSP00000445339	PLS3	1	-	-	-	-20bp 3'_splice_site	rs114186394	0.0708	T=2/C=6725;T=449/C=3386;T=451/C=10111	-	-	-	-	hom	2
19	X	114856739	C	A	ENST00000289290	ENSG00000102024	114795501	114885181	ENSP00000289290	PLS3	1	-	-	-	+18bp 5'_splice_site	rs146656785	0.018	A=0/C=6727;A=90/C=3745;A=90/C=10472	-	-	-	-	hom	2
20	X	114856739	C	A	ENST00000289290	ENSG00000102024	114795501	114885181	ENSP00000289290	PLS3	1	-	-	-	+18bp 5'_splice_site	rs146656785	0.018	A=0/C=6727;A=90/C=3745;A=90/C=10472	-	-	-	-	het	1

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Transcripts and variants in the surrounding PLS3 X:114795501..114885181 region Gbrowse