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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 ECSIT:

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
ENSG00000130159	ECSIT	1	0	0	ENSG00000130159	ENST00000270517	ENSP00000270517	ECSIT signalling integrator [Source:HGNC Symbol;Acc:29548]	19	11616731	11639989	-1	p13.2	11616731	11639989	ECSIT	ECSIT-001	HGNC Symbol	HGNC transcript name	14	50.87	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51295	29548	ECSIT	NM_016581	27526

MSeqDR Master Exome Data Set M1: 241 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	19	11616807	A	G	ENST00000252440	ENSG00000130159	11616731	11639989	ENSP00000252440	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	rs1062958	0.2769	-	-	-	-	-	het	25
2	19	11616807	A	G	ENST00000270517	ENSG00000130159	11616731	11639989	ENSP00000270517	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	rs1062958	0.2769	-	-	-	-	-	het	25
3	19	11616807	A	G	ENST00000588998	ENSG00000130159	11616731	11639989	ENSP00000468783	ECSIT	-1	-	-	-	3'_UTR	rs1062958	0.2769	-	-	-	-	-	het	25
4	19	11616807	A	G	ENST00000592571	ENSG00000130159	11616731	11639989	ENSP00000465162	ECSIT	-1	-	-	-	3'_UTR	rs1062958	0.2769	-	-	-	-	-	het	25
5	19	11616973	A	C	ENST00000252440	ENSG00000130159	11616731	11639989	ENSP00000252440	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	11616973	A	C	ENST00000270517	ENSG00000130159	11616731	11639989	ENSP00000270517	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	19	11616973	A	C	ENST00000417981	ENSG00000130159	11616731	11639989	ENSP00000412712	ECSIT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	19	11616973	A	C	ENST00000585898	ENSG00000130159	11616731	11639989	-	ECSIT	-1	-	c.524T>G	p.L175R	non-syn	NA	-	-	-	-	-	-	het	1
9	19	11616973	A	C	ENST00000588998	ENSG00000130159	11616731	11639989	ENSP00000468783	ECSIT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	19	11616973	A	C	ENST00000592571	ENSG00000130159	11616731	11639989	ENSP00000465162	ECSIT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	19	11617020	T	G	ENST00000252440	ENSG00000130159	11616731	11639989	ENSP00000252440	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
12	19	11617020	T	G	ENST00000270517	ENSG00000130159	11616731	11639989	ENSP00000270517	ECSIT	-1	ECSIT_HUMAN	c.1275A>C	p.R425R	syn	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
13	19	11617020	T	G	ENST00000417981	ENSG00000130159	11616731	11639989	ENSP00000412712	ECSIT	-1	-	c.633A>C	p.R211R	syn	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
14	19	11617020	T	G	ENST00000585898	ENSG00000130159	11616731	11639989	-	ECSIT	-1	-	c.477A>C	p.R159R	syn	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
15	19	11617020	T	G	ENST00000588998	ENSG00000130159	11616731	11639989	ENSP00000468783	ECSIT	-1	-	-	-	3'_UTR	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
16	19	11617020	T	G	ENST00000591104	ENSG00000130159	11616731	11639989	ENSP00000466559	ECSIT	-1	-	-	-	3'_UTR	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
17	19	11617020	T	G	ENST00000592571	ENSG00000130159	11616731	11639989	ENSP00000465162	ECSIT	-1	-	-	-	3'_UTR	rs34645543	-	G=13/T=8423;G=3/T=4303;G=16/T=12726	-	-	-	-	het	3
18	19	11617073	C	T	ENST00000252440	ENSG00000130159	11616731	11639989	ENSP00000252440	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	rs35513404	0.0314	T=298/C=8264;T=31/C=4361;T=329/C=12625	-	TOLERATED	D	-	het	68
19	19	11617073	C	T	ENST00000252440	ENSG00000130159	11616731	11639989	ENSP00000252440	ECSIT	-1	ECSIT_HUMAN	-	-	3'_UTR	rs35513404	0.0314	T=298/C=8264;T=31/C=4361;T=329/C=12625	-	TOLERATED	D	-	hom	4
20	19	11617073	C	T	ENST00000270517	ENSG00000130159	11616731	11639989	ENSP00000270517	ECSIT	-1	ECSIT_HUMAN	c.1222G>A	p.E408K	non-syn	rs35513404	0.0314	T=298/C=8264;T=31/C=4361;T=329/C=12625	-	TOLERATED	D	-	het	68

** 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 ECSIT 19:11616731..11639989 region Gbrowse