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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 SCN4A:

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
ENSG00000007314	SCN4A	0	0	78	ENSG00000007314	ENST00000578147	ENSP00000463963	sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]	17	62015914	62050278	-1	q23.3	62015914	62050278	SCN4A	SCN4A-001	HGNC Symbol	HGNC transcript name	4	56.1	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	6329	10591	SCN4A		27509

MSeqDR Master Exome Data Set M1: 199 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	17	62016440	G	+CA	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs79824884	-	-	-	-	-	-	het	28
2	17	62016440	G	+CA	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs79824884	-	-	-	-	-	-	hom	9
3	17	62016440	G	+CA	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs79824884	-	-	-	-	-	-	het	28
4	17	62016440	G	+CA	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs79824884	-	-	-	-	-	-	hom	9
5	17	62016520	T	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs16947280	0.0641	-	lod=78:435	-	-	-	het	1
6	17	62016520	T	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs16947280	0.0641	-	lod=78:435	-	-	-	het	1
7	17	62018002	C	A	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs140026321	0.0062	-	lod=14:251	-	-	-	het	6
8	17	62018002	C	A	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs140026321	0.0062	-	lod=14:251	-	-	-	het	6
9	17	62018009	C	T	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs2228997	0.1689	-	-	-	-	-	het	22
10	17	62018009	C	T	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs2228997	0.1689	-	-	-	-	-	het	22
11	17	62018109	T	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs2228995	0.4909	C=25/T=8349;C=2153/T=1927;C=2178/T=10276	-	-	-	-	het	35
12	17	62018109	T	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	-	-	3'_UTR	rs2228995	0.4909	C=25/T=8349;C=2153/T=1927;C=2178/T=10276	-	-	-	-	hom	8
13	17	62018109	T	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs2228995	0.4909	C=25/T=8349;C=2153/T=1927;C=2178/T=10276	-	-	-	-	het	35
14	17	62018109	T	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	-	-	3'_UTR	rs2228995	0.4909	C=25/T=8349;C=2153/T=1927;C=2178/T=10276	-	-	-	-	hom	8
15	17	62018164	A	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	c.5478T>G	p.T1826T	syn	rs2227906	0.4545	C=23/A=8359;C=2118/A=1974;C=2141/A=10333	-	-	-	-	het	39
16	17	62018164	A	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	c.5478T>G	p.T1826T	syn	rs2227906	0.4545	C=23/A=8359;C=2118/A=1974;C=2141/A=10333	-	-	-	-	hom	6
17	17	62018164	A	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	c.5478T>G	p.T1826T	syn	rs2227906	0.4545	C=23/A=8359;C=2118/A=1974;C=2141/A=10333	-	-	-	-	het	39
18	17	62018164	A	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	c.5478T>G	p.T1826T	syn	rs2227906	0.4545	C=23/A=8359;C=2118/A=1974;C=2141/A=10333	-	-	-	-	hom	6
19	17	62018174	G	C	ENST00000435607	ENSG00000007314	62015914	62050278	ENSP00000396320	SCN4A	-1	SCN4A_HUMAN	c.5468C>G	p.P1823R	non-syn	NA	-	-	-	TOLERATED	-	-	het	3
20	17	62018174	G	C	ENST00000578147	ENSG00000007314	62015914	62050278	ENSP00000463963	SCN4A	-1	-	c.5468C>G	p.P1823R	non-syn	NA	-	-	-	TOLERATED	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SCN4A 17:62015914..62050278 region Gbrowse