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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 SH2B3:

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
ENSG00000111252	SH2B3	0	0	3	ENSG00000111252	ENST00000341259	ENSP00000345492	SH2B adaptor protein 3 [Source:HGNC Symbol;Acc:29605]	12	111843752	111889427	1	q24.12	111843752	111889427	SH2B3	SH2B3-001	HGNC Symbol	HGNC transcript name	3	54.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	10019	29605	SH2B3	NM_005475	27519

MSeqDR Master Exome Data Set M1: 91 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	12	111856045	G	T	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.96G>T	p.L32F	non-syn	NA	-	-	lod=168:517	DAMAGING	P	-	het	1
2	12	111856187	C	T	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.238C>T	p.R80C	non-syn	rs73428142	0.0321	T=5/C=5695;T=54/C=2706;T=59/C=8401	lod=325:587	DAMAGING	D	-	het	4
3	12	111856187	C	T	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.44C>T	p.A15V	non-syn	rs73428142	0.0321	T=5/C=5695;T=54/C=2706;T=59/C=8401	lod=325:587	DAMAGING	D	-	het	4
4	12	111856304	C	T	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.355C>T	p.R119C	non-syn	NA	-	-	lod=23:304	DAMAGING	D	-	het	1
5	12	111856304	C	T	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.161C>T	p.P54L	non-syn	NA	-	-	lod=23:304	DAMAGING	D	-	het	1
6	12	111856443	C	G	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.494C>G	p.T165S	non-syn	rs7963692	0.327	G=8/C=5276;G=323/C=1659;G=331/C=6935	-	TOLERATED	B	-	het	9
7	12	111856443	C	G	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.494C>G	p.T165S	non-syn	rs7963692	0.327	G=8/C=5276;G=323/C=1659;G=331/C=6935	-	TOLERATED	B	-	hom	1
8	12	111856443	C	G	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.300C>G	p.D100E	non-syn	rs7963692	0.327	G=8/C=5276;G=323/C=1659;G=331/C=6935	-	TOLERATED	B	-	het	9
9	12	111856443	C	G	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.300C>G	p.D100E	non-syn	rs7963692	0.327	G=8/C=5276;G=323/C=1659;G=331/C=6935	-	TOLERATED	B	-	hom	1
10	12	111856493	T	C	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.544T>C	p.F182L	non-syn	rs7972796	0.2989	C=11/T=6153;C=424/T=2112;C=435/T=8265	lod=84:443	TOLERATED	B	-	hom	1
11	12	111856493	T	C	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.544T>C	p.F182L	non-syn	rs7972796	0.2989	C=11/T=6153;C=424/T=2112;C=435/T=8265	lod=84:443	TOLERATED	B	-	het	10
12	12	111856493	T	C	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.350T>C	p.V117A	non-syn	rs7972796	0.2989	C=11/T=6153;C=424/T=2112;C=435/T=8265	lod=84:443	TOLERATED	B	-	hom	1
13	12	111856493	T	C	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.350T>C	p.V117A	non-syn	rs7972796	0.2989	C=11/T=6153;C=424/T=2112;C=435/T=8265	lod=84:443	TOLERATED	B	-	het	10
14	12	111856506	G	T	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.557G>T	p.S186I	non-syn	rs183913232	0.0077	T=31/G=6009;T=3/G=2525;T=34/G=8534	lod=84:443	TOLERATED	P	-	het	4
15	12	111856506	G	T	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.557G>T	p.S186I	non-syn	rs183913232	0.0077	T=31/G=6009;T=3/G=2525;T=34/G=8534	lod=84:443	TOLERATED	P	-	hom	1
16	12	111856506	G	T	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.363G>T	p.E121D	non-syn	rs183913232	0.0077	T=31/G=6009;T=3/G=2525;T=34/G=8534	lod=84:443	TOLERATED	P	-	het	4
17	12	111856506	G	T	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.363G>T	p.E121D	non-syn	rs183913232	0.0077	T=31/G=6009;T=3/G=2525;T=34/G=8534	lod=84:443	TOLERATED	P	-	hom	1
18	12	111856571	G	C	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.622G>C	p.E208Q	non-syn	rs202080221	-	C=4/G=5394;C=0/G=2372;C=4/G=7766	lod=61:409	DAMAGING	D	-	het	1
19	12	111856571	G	C	ENST00000550925	ENSG00000111252	111843752	111889427	ENSP00000473529	SH2B3	1	-	c.428G>C	p.R143P	non-syn	rs202080221	-	C=4/G=5394;C=0/G=2372;C=4/G=7766	lod=61:409	DAMAGING	D	-	het	1
20	12	111856640	G	A	ENST00000341259	ENSG00000111252	111843752	111889427	ENSP00000345492	SH2B3	1	SH2B3_HUMAN	c.691G>A	p.D231N	non-syn	NA	-	-	-	TOLERATED	B	-	het	1

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Transcripts and variants in the surrounding SH2B3 12:111843752..111889427 region Gbrowse