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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 GCSH:

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
ENSG00000140905	GCSH	1	16	1	ENSG00000140905	ENST00000315467	ENSP00000319531	glycine cleavage system protein H (aminomethyl carrier) [Source:HGNC Symbol;Acc:4208]	16	81115566	81130008	-1	q23.2	81115566	81130008	GCSH	GCSH-001	HGNC Symbol	HGNC transcript name	6	43.88	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	101060817	4208	GCSH	NM_004483	27514

MSeqDR Master Exome Data Set M1: 101 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	16	81115573	C	T	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs12445303	0.162	-	-	-	-	-	het	100
2	16	81115573	C	T	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs12445303	0.162	-	-	-	-	-	hom	4
3	16	81115621	T	-AAC	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs35387568	-	-	-	-	-	-	het	99
4	16	81115621	T	-AAC	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs35387568	-	-	-	-	-	-	hom	4
5	16	81115621	T	-A	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs113297698	-	-	-	-	-	-	het	1
6	16	81115650	T	A	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs150367962	0.0014	-	-	-	-	-	het	2
7	16	81115687	T	C	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs8177959	0.1613	-	-	-	-	-	hom	4
8	16	81115687	T	C	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs8177959	0.1613	-	-	-	-	-	het	104
9	16	81115696	A	C	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	16	81115707	T	C	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	16	81115725	G	-ATTT	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	16	81115757	T	C	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs116820313	0.037	-	-	-	-	-	het	5
13	16	81115833	T	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1410	0.1503	-	-	-	-	-	het	103
14	16	81115833	T	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1410	0.1503	-	-	-	-	-	hom	4
15	16	81115842	A	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1412	0.1604	-	-	-	-	-	hom	4
16	16	81115842	A	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1412	0.1604	-	-	-	-	-	het	97
17	16	81115854	C	T	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
18	16	81115855	G	A	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs186051402	0.0022	-	-	-	-	-	het	5
19	16	81115857	A	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1414	0.1604	-	-	-	-	-	het	102
20	16	81115857	A	G	ENST00000315467	ENSG00000140905	81115566	81130008	ENSP00000319531	GCSH	-1	GCSH_HUMAN	-	-	3'_UTR	rs1414	0.1604	-	-	-	-	-	hom	4

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GCSH 16:81115566..81130008 region Gbrowse