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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 SYNGAP1:

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
ENSG00000197283	SYNGAP1	0	0	35	ENSG00000197283	ENST00000418600	ENSP00000403636	synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]	6	33387847	33421466	1	p21.32	33387941	33421466	SYNGAP1	SYNGAP1-001	HGNC Symbol	HGNC transcript name	9	53.94	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8831	11497	SYNGAP1	NM_006772	27515
ENSG00000227460	SYNGAP1	0	0	35	ENSG00000227460	ENST00000551507	ENSP00000446753	synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]	HSCHR6_MHC_SSTO	33527235	33560852	1	p21.32	33527235	33555966	SYNGAP1	SYNGAP1-202	HGNC Symbol	HGNC transcript name	9	53.93	protein_coding	protein_coding	ensembl_hava	ensembl	KNOWN	KNOWN	8831	11497	SYNGAP1		27801

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MSeqDR Master Exome Data Set M1: 212 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	6	33391270	T	C	ENST00000293748	ENSG00000197283	33387847	33421466	ENSP00000293748	SYNGAP1	1	SYGP1_HUMAN	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	het	13
2	6	33391270	T	C	ENST00000293748	ENSG00000197283	33387847	33421466	ENSP00000293748	SYNGAP1	1	SYGP1_HUMAN	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	hom	1
3	6	33391270	T	C	ENST00000418600	ENSG00000197283	33387847	33421466	ENSP00000403636	SYNGAP1	1	SYGP1_HUMAN	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	het	13
4	6	33391270	T	C	ENST00000418600	ENSG00000197283	33387847	33421466	ENSP00000403636	SYNGAP1	1	SYGP1_HUMAN	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	hom	1
5	6	33391270	T	C	ENST00000449372	ENSG00000197283	33387847	33421466	ENSP00000416519	SYNGAP1	1	-	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	het	13
6	6	33391270	T	C	ENST00000449372	ENSG00000197283	33387847	33421466	ENSP00000416519	SYNGAP1	1	-	c.84T>C	p.S28S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	hom	1
7	6	33391270	T	C	ENST00000479510	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	c.279T>C	p.S93S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	het	13
8	6	33391270	T	C	ENST00000479510	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	c.279T>C	p.S93S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	hom	1
9	6	33391270	T	C	ENST00000496374	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	c.39T>C	p.S13S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	het	13
10	6	33391270	T	C	ENST00000496374	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	c.39T>C	p.S13S	syn	rs142359891	-	C=101/T=8499;C=16/T=4390;C=117/T=12889	lod=456:624	-	-	-	hom	1
11	6	33391379	A	-GT	ENST00000293748	ENSG00000197283	33387847	33421466	ENSP00000293748	SYNGAP1	1	SYGP1_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=456:624	-	-	-	het	1
12	6	33391379	A	-GT	ENST00000418600	ENSG00000197283	33387847	33421466	ENSP00000403636	SYNGAP1	1	SYGP1_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=456:624	-	-	-	het	1
13	6	33391379	A	-GT	ENST00000449372	ENSG00000197283	33387847	33421466	ENSP00000416519	SYNGAP1	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=456:624	-	-	-	het	1
14	6	33391379	A	-GT	ENST00000479510	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=456:624	-	-	-	het	1
15	6	33391379	A	-GT	ENST00000496374	ENSG00000197283	33387847	33421466	-	SYNGAP1	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=456:624	-	-	-	het	1
16	6	33393583	C	T	ENST00000293748	ENSG00000197283	33387847	33421466	ENSP00000293748	SYNGAP1	1	SYGP1_HUMAN	c.198C>T	p.P66P	syn	rs73402305	0.2007	T=8/C=8592;T=653/C=3753;T=661/C=12345	lod=427:616	-	-	-	het	3
17	6	33393583	C	T	ENST00000293748	ENSG00000197283	33387847	33421466	ENSP00000293748	SYNGAP1	1	SYGP1_HUMAN	c.198C>T	p.P66P	syn	rs73402305	0.2007	T=8/C=8592;T=653/C=3753;T=661/C=12345	lod=427:616	-	-	-	hom	2
18	6	33393583	C	T	ENST00000418600	ENSG00000197283	33387847	33421466	ENSP00000403636	SYNGAP1	1	SYGP1_HUMAN	c.198C>T	p.P66P	syn	rs73402305	0.2007	T=8/C=8592;T=653/C=3753;T=661/C=12345	lod=427:616	-	-	-	het	3
19	6	33393583	C	T	ENST00000418600	ENSG00000197283	33387847	33421466	ENSP00000403636	SYNGAP1	1	SYGP1_HUMAN	c.198C>T	p.P66P	syn	rs73402305	0.2007	T=8/C=8592;T=653/C=3753;T=661/C=12345	lod=427:616	-	-	-	hom	2
20	6	33393583	C	T	ENST00000449372	ENSG00000197283	33387847	33421466	ENSP00000416519	SYNGAP1	1	-	c.198C>T	p.P66P	syn	rs73402305	0.2007	T=8/C=8592;T=653/C=3753;T=661/C=12345	lod=427:616	-	-	-	het	3

** 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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Transcripts and variants in the surrounding SYNGAP1 6:33387847..33421466 region Gbrowse