MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 ELMOD3:

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
ENSG00000115459	ELMOD3	0	0	1	ENSG00000115459	ENST00000315658	ENSP00000318264	ELMO/CED-12 domain containing 3 [Source:HGNC Symbol;Acc:26158]	2	85581517	85618875	1	p11.2	85581926	85618871	ELMOD3	ELMOD3-001	HGNC Symbol	HGNC transcript name	23	46.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84173	26158	ELMOD3	NM_032213	27508

MSeqDR Master Exome Data Set M1: 524 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	2	85581606	G	A	ENST00000462396	ENSG00000115459	85581517	85618875	-	ELMOD3	1	-	c.90G>A	p.Q30Q	syn	NA	-	-	lod=23:304	-	-	-	het	1
2	2	85581778	C	T	ENST00000462396	ENSG00000115459	85581517	85618875	-	ELMOD3	1	-	c.262C>T	p.L88F	non-syn	rs143078619	0.0219	-	-	-	-	-	het	2
3	2	85583936	G	A	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	rs62162715	0.0085	-	-	-	-	-	het	2
4	2	85583936	G	A	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	rs62162715	0.0085	-	-	-	-	-	hom	1
5	2	85584003	C	-AAA	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	2	85584003	C	-AA	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	2	85584003	C	-A	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	106
8	2	85584003	C	+A	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
9	2	85584051	C	T	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
10	2	85584084	G	A	ENST00000315658	ENSG00000115459	85581517	85618875	ENSP00000318264	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
11	2	85584084	G	A	ENST00000393852	ENSG00000115459	85581517	85618875	ENSP00000377434	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
12	2	85584084	G	A	ENST00000409013	ENSG00000115459	85581517	85618875	ENSP00000387139	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
13	2	85584084	G	A	ENST00000409331	ENSG00000115459	85581517	85618875	ENSP00000386257	ELMOD3	1	-	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
14	2	85584084	G	A	ENST00000409344	ENSG00000115459	85581517	85618875	ENSP00000386248	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
15	2	85584084	G	A	ENST00000409890	ENSG00000115459	85581517	85618875	ENSP00000386304	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
16	2	85584084	G	A	ENST00000418268	ENSG00000115459	85581517	85618875	ENSP00000393443	ELMOD3	1	-	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
17	2	85584084	G	A	ENST00000423095	ENSG00000115459	85581517	85618875	ENSP00000408745	ELMOD3	1	-	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	2	85584084	G	A	ENST00000428955	ENSG00000115459	85581517	85618875	ENSP00000412692	ELMOD3	1	ELMD3_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	2	85584084	G	A	ENST00000429764	ENSG00000115459	85581517	85618875	ENSP00000408329	ELMOD3	1	-	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
20	2	85584084	G	A	ENST00000446464	ENSG00000115459	85581517	85618875	ENSP00000407599	ELMOD3	1	ELMD3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

** 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 ELMOD3 2:85581517..85618875 region Gbrowse