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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 CD40LG:

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
ENSG00000102245	CD40LG	0	0	15	ENSG00000102245	ENST00000370629	ENSP00000359663	CD40 ligand [Source:HGNC Symbol;Acc:11935]	X	135730352	135742549	1	q26.3	135730352	135742549	CD40LG	CD40LG-001	HGNC Symbol	HGNC transcript name	2	41.62	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	959	11935	CD40LG	NM_000074	27516

MSeqDR Master Exome Data Set M1: 46 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	X	135730488	A	G	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.81A>G	p.L27L	syn	rs36063307	0.0117	G=0/A=6728;G=34/A=3801;G=34/A=10529	lod=53:393	-	-	-	het	1
2	X	135730488	A	G	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.81A>G	p.L27L	syn	rs36063307	0.0117	G=0/A=6728;G=34/A=3801;G=34/A=10529	lod=53:393	-	-	-	hom	1
3	X	135730488	A	G	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.81A>G	p.L27L	syn	rs36063307	0.0117	G=0/A=6728;G=34/A=3801;G=34/A=10529	lod=53:393	-	-	-	het	1
4	X	135730488	A	G	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.81A>G	p.L27L	syn	rs36063307	0.0117	G=0/A=6728;G=34/A=3801;G=34/A=10529	lod=53:393	-	-	-	hom	1
5	X	135730555	T	C	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.148T>C	p.L50L	syn	rs1126535	0.23846	C=1221/T=5507;C=602/T=3233;C=1823/T=8740	lod=115:476	-	-	-	het	176
6	X	135730555	T	C	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.148T>C	p.L50L	syn	rs1126535	0.23846	C=1221/T=5507;C=602/T=3233;C=1823/T=8740	lod=115:476	-	-	-	hom	126
7	X	135730555	T	C	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.148T>C	p.L50L	syn	rs1126535	0.23846	C=1221/T=5507;C=602/T=3233;C=1823/T=8740	lod=115:476	-	-	-	het	176
8	X	135730555	T	C	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.148T>C	p.L50L	syn	rs1126535	0.23846	C=1221/T=5507;C=602/T=3233;C=1823/T=8740	lod=115:476	-	-	-	hom	126
9	X	135741185	T	C	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	-	-	-13bp 3'_splice_site	rs3092923	0.5974	C=615/T=6113;C=2630/T=1203;C=3245/T=7316	-	-	-	-	het	99
10	X	135741185	T	C	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	-	-	-13bp 3'_splice_site	rs3092923	0.5974	C=615/T=6113;C=2630/T=1203;C=3245/T=7316	-	-	-	-	hom	86
11	X	135741185	T	C	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	-	-	-13bp 3'_splice_site	rs3092923	0.5974	C=615/T=6113;C=2630/T=1203;C=3245/T=7316	-	-	-	-	het	99
12	X	135741185	T	C	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	-	-	-13bp 3'_splice_site	rs3092923	0.5974	C=615/T=6113;C=2630/T=1203;C=3245/T=7316	-	-	-	-	hom	86
13	X	135741275	G	A	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.424G>A	p.V142I	non-syn	rs199914973	-	-	-	DAMAGING	D	-	het	1
14	X	135741275	G	A	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.424G>A	p.V142I	non-syn	rs199914973	-	-	-	DAMAGING	D	-	hom	3
15	X	135741275	G	A	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.487G>A	p.V163I	non-syn	rs199914973	-	-	-	DAMAGING	D	-	het	1
16	X	135741275	G	A	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.487G>A	p.V163I	non-syn	rs199914973	-	-	-	DAMAGING	D	-	hom	3
17	X	135741443	G	A	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.592G>A	p.G198R	non-syn	rs148594123	0.01566	A=115/G=6613;A=10/G=3825;A=125/G=10438	-	TOLERATED	P	-	het	8
18	X	135741443	G	A	ENST00000370628	ENSG00000102245	135730352	135742549	ENSP00000359662	CD40LG	1	-	c.592G>A	p.G198R	non-syn	rs148594123	0.01566	A=115/G=6613;A=10/G=3825;A=125/G=10438	-	TOLERATED	P	-	hom	6
19	X	135741443	G	A	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.655G>A	p.G219R	non-syn	rs148594123	0.01566	A=115/G=6613;A=10/G=3825;A=125/G=10438	-	TOLERATED	P	-	het	8
20	X	135741443	G	A	ENST00000370629	ENSG00000102245	135730352	135742549	ENSP00000359663	CD40LG	1	CD40L_HUMAN	c.655G>A	p.G219R	non-syn	rs148594123	0.01566	A=115/G=6613;A=10/G=3825;A=125/G=10438	-	TOLERATED	P	-	hom	6

** 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 CD40LG X:135730352..135742549 region Gbrowse