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 ACAT1:

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
ENSG00000075239	ACAT1	1	83	34	ENSG00000075239	ENST00000265838	ENSP00000265838	acetyl-CoA acetyltransferase 1 [Source:HGNC Symbol;Acc:93]	11	107992243	108018503	1	q22.3	107992243	108018503	ACAT1	ACAT1-001	HGNC Symbol	HGNC transcript name	12	42.49	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	38	93	ACAT1	NM_000019	27504

MSeqDR Master Exome Data Set M1: 158 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	11	107992306	T	A	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	rs36216231	0.009	A=1/T=7863;A=15/T=4045;A=16/T=11908	-	-	-	-	hom	1
2	11	107992306	T	A	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	rs36216231	0.009	A=1/T=7863;A=15/T=4045;A=16/T=11908	-	-	-	-	hom	1
3	11	107992306	T	A	ENST00000524833	ENSG00000075239	107992243	108018503	-	ACAT1	1	-	c.13T>A	p.W5R	non-syn	rs36216231	0.009	A=1/T=7863;A=15/T=4045;A=16/T=11908	-	-	-	-	hom	1
4	11	107992312	C	G	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	het	220
5	11	107992312	C	G	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	hom	21
6	11	107992312	C	G	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	het	220
7	11	107992312	C	G	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	hom	21
8	11	107992312	C	G	ENST00000524833	ENSG00000075239	107992243	108018503	-	ACAT1	1	-	c.19C>G	p.R7G	non-syn	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	het	220
9	11	107992312	C	G	ENST00000524833	ENSG00000075239	107992243	108018503	-	ACAT1	1	-	c.19C>G	p.R7G	non-syn	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	hom	21
10	11	107992312	C	G	ENST00000531813	ENSG00000075239	107992243	108018503	ENSP00000435965	ACAT1	1	-	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	het	220
11	11	107992312	C	G	ENST00000531813	ENSG00000075239	107992243	108018503	ENSP00000435965	ACAT1	1	-	-	-	5'_UTR	rs3741054	0.1395	G=1214/C=6736;G=349/C=3763;G=1563/C=10499	-	-	-	-	hom	21
12	11	107992318	T	G	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	11	107992318	T	G	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	11	107992318	T	G	ENST00000524833	ENSG00000075239	107992243	108018503	-	ACAT1	1	-	c.25T>G	p.S9A	non-syn	NA	-	-	-	-	-	-	het	1
15	11	107992318	T	G	ENST00000531813	ENSG00000075239	107992243	108018503	ENSP00000435965	ACAT1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	11	107992319	C	G	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	rs113348145	0.0282	G=2/C=7992;G=250/C=3864;G=252/C=11856	-	-	-	-	het	6
17	11	107992319	C	G	ENST00000265838	ENSG00000075239	107992243	108018503	ENSP00000265838	ACAT1	1	THIL_HUMAN	-	-	5'_UTR	rs113348145	0.0282	G=2/C=7992;G=250/C=3864;G=252/C=11856	-	-	-	-	hom	1
18	11	107992319	C	G	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	rs113348145	0.0282	G=2/C=7992;G=250/C=3864;G=252/C=11856	-	-	-	-	het	6
19	11	107992319	C	G	ENST00000299355	ENSG00000075239	107992243	108018503	ENSP00000299355	ACAT1	1	-	-	-	5'_UTR	rs113348145	0.0282	G=2/C=7992;G=250/C=3864;G=252/C=11856	-	-	-	-	hom	1
20	11	107992319	C	G	ENST00000524833	ENSG00000075239	107992243	108018503	-	ACAT1	1	-	c.26C>G	p.S9*	non-syn	rs113348145	0.0282	G=2/C=7992;G=250/C=3864;G=252/C=11856	-	-	-	-	het	6

** 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 ACAT1 11:107992243..108018503 region Gbrowse