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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 ENSG00000144182:

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
ENSG00000144182	LIPT1	1	4	0	ENSG00000144182	ENST00000393473	ENSP00000377115	lipoyltransferase 1 [Source:HGNC Symbol;Acc:29569]	2	99771418	99779620	1	q11.2	99771418	99779620	LIPT1	LIPT1-001	HGNC Symbol	HGNC transcript name	10	41.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51601	29569	LIPT1	NM_015929	27508

MSeqDR Master Exome Data Set M1: 128 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	99771533	C	T	ENST00000340066	ENSG00000144182	99771418	99779620	ENSP00000342071	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
2	2	99771533	C	T	ENST00000340066	ENSG00000144182	99771418	99779620	ENSP00000342071	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
3	2	99771533	C	T	ENST00000393471	ENSG00000144182	99771418	99779620	ENSP00000377114	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
4	2	99771533	C	T	ENST00000393471	ENSG00000144182	99771418	99779620	ENSP00000377114	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
5	2	99771533	C	T	ENST00000393473	ENSG00000144182	99771418	99779620	ENSP00000377115	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
6	2	99771533	C	T	ENST00000393473	ENSG00000144182	99771418	99779620	ENSP00000377115	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
7	2	99771533	C	T	ENST00000393474	ENSG00000144182	99771418	99779620	ENSP00000377116	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
8	2	99771533	C	T	ENST00000393474	ENSG00000144182	99771418	99779620	ENSP00000377116	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
9	2	99771533	C	T	ENST00000393477	ENSG00000144182	99771418	99779620	ENSP00000377118	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
10	2	99771533	C	T	ENST00000393477	ENSG00000144182	99771418	99779620	ENSP00000377118	LIPT1	1	LIPT_HUMAN	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
11	2	99771533	C	T	ENST00000434566	ENSG00000144182	99771418	99779620	ENSP00000393591	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
12	2	99771533	C	T	ENST00000434566	ENSG00000144182	99771418	99779620	ENSP00000393591	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
13	2	99771533	C	T	ENST00000449211	ENSG00000144182	99771418	99779620	ENSP00000387387	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
14	2	99771533	C	T	ENST00000449211	ENSG00000144182	99771418	99779620	ENSP00000387387	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
15	2	99771533	C	T	ENST00000480170	ENSG00000144182	99771418	99779620	-	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	het	82
16	2	99771533	C	T	ENST00000480170	ENSG00000144182	99771418	99779620	-	LIPT1	1	-	-	-	+19bp 5'_splice_site	rs2516834	0.8304	-	-	-	-	-	hom	90
17	2	99771581	C	T	ENST00000415142	ENSG00000144182	99771418	99779620	ENSP00000398168	LIPT1	1	-	-	-	5'_UTR	rs56824332	0.0187	-	-	-	-	-	het	2
18	2	99771581	C	T	ENST00000436234	ENSG00000144182	99771418	99779620	ENSP00000406314	LIPT1	1	-	-	-	5'_UTR	rs56824332	0.0187	-	-	-	-	-	het	2
19	2	99771590	G	T	ENST00000415142	ENSG00000144182	99771418	99779620	ENSP00000398168	LIPT1	1	-	-	-	5'_UTR	rs2632260	0.812	-	-	-	-	-	het	74
20	2	99771590	G	T	ENST00000415142	ENSG00000144182	99771418	99779620	ENSP00000398168	LIPT1	1	-	-	-	5'_UTR	rs2632260	0.812	-	-	-	-	-	hom	84

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Transcripts and variants in the surrounding LIPT1 2:99771418..99779620 region Gbrowse