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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 UCHL1:

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
ENSG00000154277	UCHL1	0	0	3	ENSG00000154277	ENST00000514924	ENSP00000426634	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) [Source:HGNC Symbol;Acc:12513]	4	41258430	41270472	1	p13	41258430	41259754	UCHL1	UCHL1-007	HGNC Symbol	HGNC transcript name	12	44.57	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	7345	12513	UCHL1		27524

MSeqDR Master Exome Data Set M1: 223 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	4	41258688	A	G	ENST00000514924	ENSG00000154277	41258430	41270472	ENSP00000426634	UCHL1	1	-	-	-	5'_UTR	rs73809700	0.1572	-	-	-	-	-	het	1
2	4	41258762	G	A	ENST00000514924	ENSG00000154277	41258430	41270472	ENSP00000426634	UCHL1	1	-	-	-	5'_UTR	rs73809701	0.1597	-	lod=41:366	-	-	-	het	29
3	4	41258762	G	A	ENST00000514924	ENSG00000154277	41258430	41270472	ENSP00000426634	UCHL1	1	-	-	-	5'_UTR	rs73809701	0.1597	-	lod=41:366	-	-	-	hom	4
4	4	41258792	G	A	ENST00000503431	ENSG00000154277	41258430	41270472	ENSP00000422542	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	3
5	4	41258792	G	A	ENST00000514924	ENSG00000154277	41258430	41270472	ENSP00000426634	UCHL1	1	-	-	-	+14bp 5'_splice_site	NA	-	-	lod=25:313	-	-	-	het	3
6	4	41258860	G	T	ENST00000284440	ENSG00000154277	41258430	41270472	ENSP00000284440	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	NA	-	-	lod=142:499	-	-	-	het	1
7	4	41258923	C	G	ENST00000284440	ENSG00000154277	41258430	41270472	ENSP00000284440	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	rs201100258	-	G=8/C=3174;G=1/C=1383;G=9/C=4557	lod=142:499	-	-	-	het	8
8	4	41258970	A	G	ENST00000284440	ENSG00000154277	41258430	41270472	ENSP00000284440	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
9	4	41258970	A	G	ENST00000284440	ENSG00000154277	41258430	41270472	ENSP00000284440	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
10	4	41258970	A	G	ENST00000381760	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.46A>G	p.I16V	non-syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
11	4	41258970	A	G	ENST00000381760	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.46A>G	p.I16V	non-syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
12	4	41258970	A	G	ENST00000472501	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.8A>G	p.Y3C	non-syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
13	4	41258970	A	G	ENST00000472501	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.8A>G	p.Y3C	non-syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
14	4	41258970	A	G	ENST00000503431	ENSG00000154277	41258430	41270472	ENSP00000422542	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
15	4	41258970	A	G	ENST00000503431	ENSG00000154277	41258430	41270472	ENSP00000422542	UCHL1	1	UCHL1_HUMAN	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
16	4	41258970	A	G	ENST00000504818	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.21A>G	p.L7L	syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
17	4	41258970	A	G	ENST00000504818	ENSG00000154277	41258430	41270472	-	UCHL1	1	-	c.21A>G	p.L7L	syn	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
18	4	41258970	A	G	ENST00000505232	ENSG00000154277	41258430	41270472	ENSP00000423348	UCHL1	1	-	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161
19	4	41258970	A	G	ENST00000505232	ENSG00000154277	41258430	41270472	ENSP00000423348	UCHL1	1	-	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	hom	7
20	4	41258970	A	G	ENST00000508768	ENSG00000154277	41258430	41270472	ENSP00000426895	UCHL1	1	-	-	-	5'_UTR	rs11556271	0.1114	G=766/A=7834;G=355/A=4051;G=1121/A=11885	-	-	-	-	het	161

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Transcripts and variants in the surrounding UCHL1 4:41258430..41270472 region Gbrowse