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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 SOX18:

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
ENSG00000203883	SOX18	0	0	0	ENSG00000203883	ENST00000340356	ENSP00000341815	SRY (sex determining region Y)-box 18 [Source:HGNC Symbol;Acc:11194]	20	62679076	62680994	-1	q13.33	62679076	62680994	SOX18	SOX18-001	HGNC Symbol	HGNC transcript name	1	72.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54345	11194	SOX18	NM_018419	27522

MSeqDR Master Exome Data Set M1: 22 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	20	62679146	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs12303	0.1386	-	lod=72:426	-	-	-	het	85
2	20	62679146	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs12303	0.1386	-	lod=72:426	-	-	-	hom	12
3	20	62679162	T	C	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	NA	-	-	lod=72:426	-	-	-	het	8
4	20	62679162	T	C	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	NA	-	-	lod=72:426	-	-	-	hom	1
5	20	62679224	C	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	20	62679392	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs114081080	0.0574	-	-	-	-	-	het	8
7	20	62679392	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs114081080	0.0574	-	-	-	-	-	hom	1
8	20	62679420	A	G	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	20	62679437	A	G	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs115220371	0.0525	-	-	-	-	-	het	8
10	20	62679437	A	G	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	3'_UTR	rs115220371	0.0525	-	-	-	-	-	hom	1
11	20	62679713	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.961G>A	p.D321N	non-syn	rs200668348	-	T=4/C=8456;T=0/C=4300;T=4/C=12756	lod=267:566	DAMAGING	P	-	het	1
12	20	62679873	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.801G>A	p.A267A	syn	rs183578654	0.0608	-	lod=50:387	-	-	-	hom	1
13	20	62679873	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.801G>A	p.A267A	syn	rs183578654	0.0608	-	lod=50:387	-	-	-	het	7
14	20	62679957	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.717C>T	p.D239D	syn	NA	-	-	lod=76:432	-	-	-	het	2
15	20	62680496	C	T	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	+16bp 5'_splice_site	rs201411079	-	T=11/C=8389;T=3/C=4269;T=14/C=12658	-	-	-	-	het	2
16	20	62680627	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.243C>T	p.D81D	syn	rs144785707	0.024	A=5/G=8557;A=258/G=4120;A=263/G=12677	lod=580:649	-	-	-	het	2
17	20	62680627	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.243C>T	p.D81D	syn	rs144785707	0.024	A=5/G=8557;A=258/G=4120;A=263/G=12677	lod=580:649	-	-	-	hom	2
18	20	62680785	C	+GG	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.84_85insCC	p.A29NA	non-syn	NA	-	-	lod=178:523	-	-	-	het	1
19	20	62680832	T	G	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	c.38A>C	p.D13A	non-syn	NA	-	-	lod=178:523	TOLERATED	D	-	het	4
20	20	62680906	G	A	ENST00000340356	ENSG00000203883	62679076	62680994	ENSP00000341815	SOX18	-1	SOX18_HUMAN	-	-	5'_UTR	NA	-	-	lod=178:523	-	-	-	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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Transcripts and variants in the surrounding SOX18 20:62679076..62680994 region Gbrowse