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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 ASS1:

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
ENSG00000130707	ASS1	1	15	45	ENSG00000130707	ENST00000352480	ENSP00000253004	argininosuccinate synthase 1 [Source:HGNC Symbol;Acc:758]	9	133320316	133376661	1	q34.11	133320316	133376661	ASS1	ASS1-002	HGNC Symbol	HGNC transcript name	10	55.65	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	445	758	ASS1	NM_054012	27518

MSeqDR Master Exome Data Set M1: 201 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	9	133320449	A	C	ENST00000422569	ENSG00000130707	133320316	133376661	ENSP00000394212	ASS1	1	-	-	-	5'_UTR	rs6597680	0.4249	-	-	-	-	-	het	1
2	9	133320449	A	C	ENST00000422569	ENSG00000130707	133320316	133376661	ENSP00000394212	ASS1	1	-	-	-	5'_UTR	rs6597680	0.4249	-	-	-	-	-	hom	3
3	9	133325694	G	A	ENST00000372393	ENSG00000130707	133320316	133376661	ENSP00000361469	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs145212223	0.0136	-	-	-	-	-	het	1
4	9	133325728	C	T	ENST00000372393	ENSG00000130707	133320316	133376661	ENSP00000361469	ASS1	1	ASSY_HUMAN	-	-	+8bp 5'_splice_site	rs12004384	0.021	-	-	-	-	-	het	6
5	9	133327178	G	C	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs180893104	0.0017	-	-	-	-	-	het	2
6	9	133327186	C	A	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs7040665	0.0326	-	-	-	-	-	het	2
7	9	133327308	G	A	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	9	133327311	G	A	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs114084616	0.013	-	-	-	-	-	het	4
9	9	133327391	C	T	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	9	133327396	G	A	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs150904366	0.0065	-	-	-	-	-	het	23
11	9	133327439	T	C	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	+9bp 5'_splice_site	rs1760275	0.9828	-	-	-	-	-	het	37
12	9	133327439	T	C	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	+9bp 5'_splice_site	rs1760275	0.9828	-	-	-	-	-	hom	697
13	9	133327599	G	A	ENST00000352480	ENSG00000130707	133320316	133376661	ENSP00000253004	ASS1	1	ASSY_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
14	9	133327599	G	A	ENST00000372393	ENSG00000130707	133320316	133376661	ENSP00000361469	ASS1	1	ASSY_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
15	9	133327599	G	A	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
16	9	133327599	G	A	ENST00000422569	ENSG00000130707	133320316	133376661	ENSP00000394212	ASS1	1	-	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
17	9	133327612	C	T	ENST00000352480	ENSG00000130707	133320316	133376661	ENSP00000253004	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs138350285	0.0033	T=2/C=8598;T=6/C=4400;T=8/C=12998	-	-	-	HGMD	het	1
18	9	133327612	C	T	ENST00000372393	ENSG00000130707	133320316	133376661	ENSP00000361469	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs138350285	0.0033	T=2/C=8598;T=6/C=4400;T=8/C=12998	-	-	-	HGMD	het	1
19	9	133327612	C	T	ENST00000372394	ENSG00000130707	133320316	133376661	ENSP00000361471	ASS1	1	ASSY_HUMAN	-	-	5'_UTR	rs138350285	0.0033	T=2/C=8598;T=6/C=4400;T=8/C=12998	-	-	-	HGMD	het	1
20	9	133327612	C	T	ENST00000422569	ENSG00000130707	133320316	133376661	ENSP00000394212	ASS1	1	-	-	-	5'_UTR	rs138350285	0.0033	T=2/C=8598;T=6/C=4400;T=8/C=12998	-	-	-	HGMD	het	1

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Transcripts and variants in the surrounding ASS1 9:133320316..133376661 region Gbrowse