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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 ISCU:

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
ENSG00000136003	ISCU	1	3	9	ENSG00000136003	ENST00000545932		iron-sulfur cluster assembly enzyme [Source:HGNC Symbol;Acc:29882]	12	108956358	108963160	1	q23.3	108956358	108963117	ISCU	ISCU-002	HGNC Symbol	HGNC transcript name	14	45.76	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	23479	29882	ISCU		27519

MSeqDR Master Exome Data Set M1: 268 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	12	108956417	T	G	ENST00000311893	ENSG00000136003	108956358	108963160	ENSP00000310623	ISCU	1	ISCU_HUMAN	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
2	12	108956417	T	G	ENST00000311893	ENSG00000136003	108956358	108963160	ENSP00000310623	ISCU	1	ISCU_HUMAN	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
3	12	108956417	T	G	ENST00000338291	ENSG00000136003	108956358	108963160	ENSP00000344584	ISCU	1	-	-	-	5'_UTR	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
4	12	108956417	T	G	ENST00000338291	ENSG00000136003	108956358	108963160	ENSP00000344584	ISCU	1	-	-	-	5'_UTR	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
5	12	108956417	T	G	ENST00000392807	ENSG00000136003	108956358	108963160	ENSP00000376554	ISCU	1	ISCU_HUMAN	-	-	5'_UTR	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
6	12	108956417	T	G	ENST00000392807	ENSG00000136003	108956358	108963160	ENSP00000376554	ISCU	1	ISCU_HUMAN	-	-	5'_UTR	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
7	12	108956417	T	G	ENST00000431221	ENSG00000136003	108956358	108963160	ENSP00000411108	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
8	12	108956417	T	G	ENST00000431221	ENSG00000136003	108956358	108963160	ENSP00000411108	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
9	12	108956417	T	G	ENST00000535405	ENSG00000136003	108956358	108963160	-	ISCU	1	-	c.25T>G	p.F9V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
10	12	108956417	T	G	ENST00000535405	ENSG00000136003	108956358	108963160	-	ISCU	1	-	c.25T>G	p.F9V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
11	12	108956417	T	G	ENST00000535729	ENSG00000136003	108956358	108963160	ENSP00000445598	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
12	12	108956417	T	G	ENST00000535729	ENSG00000136003	108956358	108963160	ENSP00000445598	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
13	12	108956417	T	G	ENST00000539580	ENSG00000136003	108956358	108963160	ENSP00000437854	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
14	12	108956417	T	G	ENST00000539580	ENSG00000136003	108956358	108963160	ENSP00000437854	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
15	12	108956417	T	G	ENST00000539593	ENSG00000136003	108956358	108963160	ENSP00000443272	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
16	12	108956417	T	G	ENST00000539593	ENSG00000136003	108956358	108963160	ENSP00000443272	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
17	12	108956417	T	G	ENST00000545932	ENSG00000136003	108956358	108963160	-	ISCU	1	-	c.60T>G	p.L20L	syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
18	12	108956417	T	G	ENST00000545932	ENSG00000136003	108956358	108963160	-	ISCU	1	-	c.60T>G	p.L20L	syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36
19	12	108956417	T	G	ENST00000547005	ENSG00000136003	108956358	108963160	ENSP00000446606	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	hom	558
20	12	108956417	T	G	ENST00000547005	ENSG00000136003	108956358	108963160	ENSP00000446606	ISCU	1	-	c.19T>G	p.F7V	non-syn	rs10778647	0.8417	-	lod=29:329	TOLERATED	-	-	het	36

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding ISCU 12:108956358..108963160 region Gbrowse