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 SLC16A1:

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
ENSG00000155380	SLC16A1	1	0	16	ENSG00000155380	ENST00000369626	ENSP00000358640	solute carrier family 16 (monocarboxylate transporter), member 1 [Source:HGNC Symbol;Acc:10922]	1	113454469	113499635	-1	p13.2	113454469	113498975	SLC16A1	SLC16A1-001	HGNC Symbol	HGNC transcript name	8	40.76	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6566	10922	SLC16A1	NM_003051	27511

MSeqDR Master Exome Data Set M1: 115 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	1	113454473	T	C	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	113454571	A	G	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs9429505	0.4626	-	-	-	-	-	het	208
3	1	113454571	A	G	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs9429505	0.4626	-	-	-	-	-	hom	33
4	1	113454571	A	G	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs9429505	0.4626	-	-	-	-	-	het	208
5	1	113454571	A	G	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs9429505	0.4626	-	-	-	-	-	hom	33
6	1	113454637	C	G	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs11811205	0.0282	-	-	-	-	-	het	2
7	1	113454637	C	G	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs11811205	0.0282	-	-	-	-	-	het	2
8	1	113454947	T	C	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
9	1	113454947	T	C	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
10	1	113454948	C	T	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	2
11	1	113454948	C	T	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	2
12	1	113455099	G	A	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs7169	0.55421	-	-	-	-	-	hom	225
13	1	113455099	G	A	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs7169	0.55421	-	-	-	-	-	het	299
14	1	113455099	G	A	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs7169	0.55421	-	-	-	-	-	hom	225
15	1	113455099	G	A	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs7169	0.55421	-	-	-	-	-	het	299
16	1	113455113	C	T	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	1	113455113	C	T	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	1	113455145	T	C	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs192518061	0.0014	-	lod=50:387	-	-	-	het	2
19	1	113455145	T	C	ENST00000538576	ENSG00000155380	113454469	113499635	ENSP00000441065	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs192518061	0.0014	-	lod=50:387	-	-	-	het	2
20	1	113455232	A	C	ENST00000369626	ENSG00000155380	113454469	113499635	ENSP00000358640	SLC16A1	-1	MOT1_HUMAN	-	-	3'_UTR	rs184445532	0.0029	-	-	-	-	-	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 SLC16A1 1:113454469..113499635 region Gbrowse