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 ADAMTS18:

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
ENSG00000140873	ADAMTS18	0	0	6	ENSG00000140873	ENST00000562332	ENSP00000454368	ADAM metallopeptidase with thrombospondin type 1 motif, 18 [Source:HGNC Symbol;Acc:17110]	16	77281710	77469011	-1	q23.1	77281710	77323256	ADAMTS18	ADAMTS18-011	HGNC Symbol	HGNC transcript name	9	39.76	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	170692	17110	ADAMTS18		27514

MSeqDR Master Exome Data Set M1: 250 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	16	77281779	G	-TC	ENST00000562332	ENSG00000140873	77281710	77469011	ENSP00000454368	ADAMTS18	-1	-	-	-	3'_UTR	rs35625788	-	-	-	-	-	-	het	70
2	16	77281779	G	-TC	ENST00000562332	ENSG00000140873	77281710	77469011	ENSP00000454368	ADAMTS18	-1	-	-	-	3'_UTR	rs35625788	-	-	-	-	-	-	hom	52
3	16	77281905	C	T	ENST00000562332	ENSG00000140873	77281710	77469011	ENSP00000454368	ADAMTS18	-1	-	c.154G>A	p.D52N	non-syn	rs13332812	0.0554	-	-	-	-	-	het	7
4	16	77316025	T	C	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs56011164	0.0344	-	lod=630:658	-	-	-	het	1
5	16	77316150	G	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs1060547	0.1953	-	lod=630:658	-	-	-	hom	8
6	16	77316150	G	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs1060547	0.1953	-	lod=630:658	-	-	-	het	85
7	16	77316177	C	G	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	NA	-	-	lod=630:658	-	-	-	het	1
8	16	77316178	T	-ATTA	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs72415010	-	-	lod=630:658	-	-	-	het	1
9	16	77316260	C	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs16945428	0.2025	-	-	-	-	-	het	119
10	16	77316260	C	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs16945428	0.2025	-	-	-	-	-	hom	11
11	16	77316279	A	+T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	16	77316326	C	G	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs74025765	0.009	-	-	-	-	-	het	2
13	16	77316342	A	C	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	16	77316410	C	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs34371402	0.16698	-	lod=92:452	-	-	-	het	132
15	16	77316410	C	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs34371402	0.16698	-	lod=92:452	-	-	-	hom	11
16	16	77316441	A	C	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	16	77316615	A	T	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	NA	-	-	lod=64:414	-	-	-	het	1
18	16	77316787	A	C	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs747734	0.98242	-	-	-	-	-	het	11
19	16	77316787	A	C	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs747734	0.98242	-	-	-	-	-	hom	188
20	16	77316790	C	-CTTT	ENST00000282849	ENSG00000140873	77281710	77469011	ENSP00000282849	ADAMTS18	-1	ATS18_HUMAN	-	-	3'_UTR	rs139591380	-	-	-	-	-	-	hom	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 ADAMTS18 16:77281710..77469011 region Gbrowse