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 CYP24A1:

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
ENSG00000019186	CYP24A1	1	0	6	ENSG00000019186	ENST00000216862	ENSP00000216862	cytochrome P450, family 24, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2602]	20	52769988	52790512	-1	q13.2	52769988	52790512	CYP24A1	CYP24A1-003	HGNC Symbol	HGNC transcript name	6	43.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1591	2602	CYP24A1	NM_000782	27522

MSeqDR Master Exome Data Set M1: 134 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	20	52770220	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	20	52770596	G	C	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	-	-	3'_UTR	rs6022987	0.27164	-	-	-	-	-	het	1
3	20	52770596	G	C	ENST00000395955	ENSG00000019186	52769988	52790512	ENSP00000379285	CYP24A1	-1	CP24A_HUMAN	-	-	3'_UTR	rs6022987	0.27164	-	-	-	-	-	het	1
4	20	52773736	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	c.1527C>T	p.I509I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	hom	1
5	20	52773736	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	c.1527C>T	p.I509I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	het	9
6	20	52773736	G	A	ENST00000395954	ENSG00000019186	52769988	52790512	ENSP00000379284	CYP24A1	-1	-	c.1101C>T	p.I367I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	hom	1
7	20	52773736	G	A	ENST00000395954	ENSG00000019186	52769988	52790512	ENSP00000379284	CYP24A1	-1	-	c.1101C>T	p.I367I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	het	9
8	20	52773736	G	A	ENST00000395955	ENSG00000019186	52769988	52790512	ENSP00000379285	CYP24A1	-1	CP24A_HUMAN	c.1329C>T	p.I443I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	hom	1
9	20	52773736	G	A	ENST00000395955	ENSG00000019186	52769988	52790512	ENSP00000379285	CYP24A1	-1	CP24A_HUMAN	c.1329C>T	p.I443I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	het	9
10	20	52773736	G	A	ENST00000460643	ENSG00000019186	52769988	52790512	-	CYP24A1	-1	-	c.102C>T	p.I34I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	hom	1
11	20	52773736	G	A	ENST00000460643	ENSG00000019186	52769988	52790512	-	CYP24A1	-1	-	c.102C>T	p.I34I	syn	rs61730999	0.0853	A=4/G=8596;A=566/G=3840;A=570/G=12436	lod=121:482	-	-	-	het	9
12	20	52773755	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	c.1508C>T	p.P503L	non-syn	NA	-	-	lod=121:482	DAMAGING	D	-	het	1
13	20	52773755	G	A	ENST00000395954	ENSG00000019186	52769988	52790512	ENSP00000379284	CYP24A1	-1	-	c.1082C>T	p.P361L	non-syn	NA	-	-	lod=121:482	DAMAGING	D	-	het	1
14	20	52773755	G	A	ENST00000395955	ENSG00000019186	52769988	52790512	ENSP00000379285	CYP24A1	-1	CP24A_HUMAN	c.1310C>T	p.P437L	non-syn	NA	-	-	lod=121:482	DAMAGING	D	-	het	1
15	20	52773755	G	A	ENST00000460643	ENSG00000019186	52769988	52790512	-	CYP24A1	-1	-	c.83C>T	p.P28L	non-syn	NA	-	-	lod=121:482	DAMAGING	D	-	het	1
16	20	52773822	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	c.1441C>T	p.R481C	non-syn	rs143523685	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=28:325	DAMAGING	D	-	het	1
17	20	52773822	G	A	ENST00000395954	ENSG00000019186	52769988	52790512	ENSP00000379284	CYP24A1	-1	-	c.1015C>T	p.R339C	non-syn	rs143523685	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=28:325	DAMAGING	D	-	het	1
18	20	52773822	G	A	ENST00000395955	ENSG00000019186	52769988	52790512	ENSP00000379285	CYP24A1	-1	CP24A_HUMAN	c.1243C>T	p.R415C	non-syn	rs143523685	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=28:325	DAMAGING	D	-	het	1
19	20	52773822	G	A	ENST00000460643	ENSG00000019186	52769988	52790512	-	CYP24A1	-1	-	c.16C>T	p.R6C	non-syn	rs143523685	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=28:325	DAMAGING	D	-	het	1
20	20	52773965	G	A	ENST00000216862	ENSG00000019186	52769988	52790512	ENSP00000216862	CYP24A1	-1	CP24A_HUMAN	c.1396C>T	p.R466*	non-syn	NA	-	-	lod=33:343	TOLERATED	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 CYP24A1 20:52769988..52790512 region Gbrowse