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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 CISD2:

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
ENSG00000145354	CISD2	1	1	0	ENSG00000145354	ENST00000273986	ENSP00000273986	CDGSH iron sulfur domain 2 [Source:HGNC Symbol;Acc:24212]	4	103790135	103810399	1	q24	103790135	103810399	CISD2	CISD2-001	HGNC Symbol	HGNC transcript name	3	39.45	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	493856	24212	CISD2	NM_001008388	27524

MSeqDR Master Exome Data Set M1: 21 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	4	103790158	C	T	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	9
2	4	103790186	G	T	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	5'_UTR	rs223332	0.8056	-	-	-	-	-	hom	218
3	4	103790186	G	T	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	5'_UTR	rs223332	0.8056	-	-	-	-	-	het	376
4	4	103790210	G	A	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	4	103790224	T	G	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	4	103790224	T	G	ENST00000574446	ENSG00000145354	103790135	103810399	ENSP00000458976	CISD2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	4	103790253	G	A	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	c.12G>A	p.E4E	syn	rs145312923	0.0041	A=0/G=8600;A=14/G=4392;A=14/G=12992	lod=192:531	-	-	-	het	1
8	4	103790253	G	A	ENST00000574446	ENSG00000145354	103790135	103810399	ENSP00000458976	CISD2	1	-	c.12G>A	p.E4E	syn	rs145312923	0.0041	A=0/G=8600;A=14/G=4392;A=14/G=12992	lod=192:531	-	-	-	het	1
9	4	103790595	C	A	ENST00000503643	ENSG00000145354	103790135	103810399	ENSP00000423716	CISD2	1	-	c.59C>A	p.P20Q	non-syn	rs79799774	0.0463	-	-	-	-	-	het	5
10	4	103790637	C	T	ENST00000503643	ENSG00000145354	103790135	103810399	ENSP00000423716	CISD2	1	-	c.101C>T	p.S34F	non-syn	rs113711399	0.0188	-	-	-	-	-	het	10
11	4	103806364	C	A	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	-9bp 3'_splice_site	rs190212874	0.0014	A=0/C=8600;A=11/C=4395;A=11/C=12995	-	-	-	-	het	1
12	4	103806364	C	A	ENST00000503643	ENSG00000145354	103790135	103810399	ENSP00000423716	CISD2	1	-	-	-	-9bp 3'_splice_site	rs190212874	0.0014	A=0/C=8600;A=11/C=4395;A=11/C=12995	-	-	-	-	het	1
13	4	103806364	C	A	ENST00000574446	ENSG00000145354	103790135	103810399	ENSP00000458976	CISD2	1	-	-	-	-9bp 3'_splice_site	rs190212874	0.0014	A=0/C=8600;A=11/C=4395;A=11/C=12995	-	-	-	-	het	1
14	4	103809211	C	+TG	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	4	103809211	C	-TG	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	rs35045951	-	-	-	-	-	-	het	47
16	4	103809211	C	-TGTG	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	21
17	4	103809323	T	+C	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	rs35331282	-	-	-	-	-	-	het	99
18	4	103809323	T	+C	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	rs35331282	-	-	-	-	-	-	hom	52
19	4	103809914	C	A	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	rs223311	0.7708	-	-	-	-	-	het	327
20	4	103809914	C	A	ENST00000273986	ENSG00000145354	103790135	103810399	ENSP00000273986	CISD2	1	CISD2_HUMAN	-	-	3'_UTR	rs223311	0.7708	-	-	-	-	-	hom	171

** 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 CISD2 4:103790135..103810399 region Gbrowse