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
PMD-VR_Virtual Registry
Collaboration
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 ATL1:

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
ENSG00000198513	ATL1	1	0	28	ENSG00000198513	ENST00000556478		atlastin GTPase 1 [Source:HGNC Symbol;Acc:11231]	14	50999227	51099786	1	q22.1	50999227	51054654	ATL1	ATL1-003	HGNC Symbol	HGNC transcript name	12	37.9	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	51062	11231	ATL1		27520

MSeqDR Master Exome Data Set M1: 116 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	14	50999290	T	+CGCCGC	ENST00000556478	ENSG00000198513	50999227	51099786	-	ATL1	1	-	c.64_65insCGCCGC	p.S22NA	non-syn	NA	-	-	lod=66:417	-	-	-	het	1
2	14	51026747	A	+G	ENST00000354525	ENSG00000198513	50999227	51099786	ENSP00000346522	ATL1	1	ATLA1_HUMAN	-	-	5'_UTR	NA	-	-	lod=210:541	-	-	-	het	1
3	14	51026747	A	+G	ENST00000357032	ENSG00000198513	50999227	51099786	ENSP00000349534	ATL1	1	-	-	-	5'_UTR	NA	-	-	lod=210:541	-	-	-	het	1
4	14	51026747	A	+G	ENST00000358385	ENSG00000198513	50999227	51099786	ENSP00000351155	ATL1	1	ATLA1_HUMAN	-	-	5'_UTR	NA	-	-	lod=210:541	-	-	-	het	1
5	14	51027097	G	A	ENST00000557735	ENSG00000198513	50999227	51099786	ENSP00000451015	ATL1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	14	51027122	T	C	ENST00000557735	ENSG00000198513	50999227	51099786	ENSP00000451015	ATL1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	14	51027127	G	C	ENST00000557735	ENSG00000198513	50999227	51099786	ENSP00000451015	ATL1	1	-	-	-	5'_UTR	rs74885887	0.1075	-	-	-	-	-	het	6
8	14	51027130	T	G	ENST00000557735	ENSG00000198513	50999227	51099786	ENSP00000451015	ATL1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	14	51054559	G	A	ENST00000354525	ENSG00000198513	50999227	51099786	ENSP00000346522	ATL1	1	ATLA1_HUMAN	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
10	14	51054559	G	A	ENST00000357032	ENSG00000198513	50999227	51099786	ENSP00000349534	ATL1	1	-	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
11	14	51054559	G	A	ENST00000358385	ENSG00000198513	50999227	51099786	ENSP00000351155	ATL1	1	ATLA1_HUMAN	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
12	14	51054559	G	A	ENST00000441560	ENSG00000198513	50999227	51099786	ENSP00000413675	ATL1	1	ATLA1_HUMAN	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
13	14	51054559	G	A	ENST00000553509	ENSG00000198513	50999227	51099786	ENSP00000450989	ATL1	1	-	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
14	14	51054559	G	A	ENST00000555960	ENSG00000198513	50999227	51099786	ENSP00000452506	ATL1	1	-	c.45G>A	p.S15S	syn	NA	-	-	lod=97:458	-	-	-	het	1
15	14	51054559	G	A	ENST00000556478	ENSG00000198513	50999227	51099786	-	ATL1	1	-	c.549G>A	p.S183S	syn	NA	-	-	lod=97:458	-	-	-	het	1
16	14	51054559	G	A	ENST00000557735	ENSG00000198513	50999227	51099786	ENSP00000451015	ATL1	1	-	-	-	5'_UTR	NA	-	-	lod=97:458	-	-	-	het	1
17	14	51054598	A	G	ENST00000354525	ENSG00000198513	50999227	51099786	ENSP00000346522	ATL1	1	ATLA1_HUMAN	c.84A>G	p.P28P	syn	rs35014209	0.3371	G=1236/A=7364;G=1384/A=3022;G=2620/A=10386	lod=264:565	-	-	-	hom	39
18	14	51054598	A	G	ENST00000354525	ENSG00000198513	50999227	51099786	ENSP00000346522	ATL1	1	ATLA1_HUMAN	c.84A>G	p.P28P	syn	rs35014209	0.3371	G=1236/A=7364;G=1384/A=3022;G=2620/A=10386	lod=264:565	-	-	-	het	231
19	14	51054598	A	G	ENST00000357032	ENSG00000198513	50999227	51099786	ENSP00000349534	ATL1	1	-	c.84A>G	p.P28P	syn	rs35014209	0.3371	G=1236/A=7364;G=1384/A=3022;G=2620/A=10386	lod=264:565	-	-	-	hom	39
20	14	51054598	A	G	ENST00000357032	ENSG00000198513	50999227	51099786	ENSP00000349534	ATL1	1	-	c.84A>G	p.P28P	syn	rs35014209	0.3371	G=1236/A=7364;G=1384/A=3022;G=2620/A=10386	lod=264:565	-	-	-	het	231

** 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 ATL1 14:50999227..51099786 region Gbrowse