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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 SATB2:

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
ENSG00000119042	SATB2	0	0	10	ENSG00000119042	ENST00000417098	ENSP00000401112	SATB homeobox 2 [Source:HGNC Symbol;Acc:21637]	2	200134223	200335989	-1	q33.1	200134223	200322819	SATB2	SATB2-001	HGNC Symbol	HGNC transcript name	10	38.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23314	21637	SATB2	NM_001172509	27508

MSeqDR Master Exome Data Set M1: 169 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	200134420	C	+AAA	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	42
2	2	200134420	C	+AAA	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	42
3	2	200134420	C	+AAA	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	42
4	2	200134420	C	+AA	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	466
5	2	200134420	C	+AA	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	466
6	2	200134420	C	+AA	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	466
7	2	200134420	C	+A	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	346
8	2	200134420	C	+A	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	346
9	2	200134420	C	+A	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	NA	-	-	lod=2803:818	-	-	-	het	346
10	2	200134604	T	C	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	rs184512660	0.00733	-	lod=2803:818	-	-	-	het	10
11	2	200134604	T	C	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	rs184512660	0.00733	-	lod=2803:818	-	-	-	het	10
12	2	200134604	T	C	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	rs184512660	0.00733	-	lod=2803:818	-	-	-	het	10
13	2	200134880	G	A	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=33:343	-	-	-	het	2
14	2	200134880	G	A	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=33:343	-	-	-	het	2
15	2	200134880	G	A	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	NA	-	-	lod=33:343	-	-	-	het	2
16	2	200134952	T	C	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	rs184841500	0.00183	-	lod=20:289	-	-	-	het	1
17	2	200134952	T	C	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	rs184841500	0.00183	-	lod=20:289	-	-	-	het	1
18	2	200134952	T	C	ENST00000443023	ENSG00000119042	200134223	200335989	ENSP00000388764	SATB2	-1	-	-	-	3'_UTR	rs184841500	0.00183	-	lod=20:289	-	-	-	het	1
19	2	200134970	C	G	ENST00000260926	ENSG00000119042	200134223	200335989	ENSP00000260926	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=1412:744	-	-	-	het	1
20	2	200134970	C	G	ENST00000417098	ENSG00000119042	200134223	200335989	ENSP00000401112	SATB2	-1	SATB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=1412:744	-	-	-	het	1

** 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 SATB2 2:200134223..200335989 region Gbrowse