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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 ENSG00000157184:

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
ENSG00000157184	CPT2	1	100	51	ENSG00000157184	ENST00000371486	ENSP00000360541	carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]	1	53662101	53679869	1	p32.3	53662101	53679869	CPT2	CPT2-001	HGNC Symbol	HGNC transcript name	2	44.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1376	2330	CPT2	NM_000098	27511

MSeqDR Master Exome Data Set M1: 49 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	53662258	C	+T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	9
2	1	53662331	C	A	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	1	53662374	G	A	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	1	53662374	G	A	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
5	1	53662374	G	C	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	1	53662660	G	T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.45G>T	p.A15A	syn	NA	-	-	-	-	-	-	het	1
7	1	53662660	G	T	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.130G>T	p.G44C	non-syn	NA	-	-	-	-	-	-	het	1
8	1	53667997	A	C	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.236A>C	p.K79T	non-syn	rs150888506	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	lod=77:433	TOLERATED	B	-	het	1
9	1	53667997	A	C	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.321A>C	p.E107D	non-syn	rs150888506	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	lod=77:433	TOLERATED	B	-	het	1
10	1	53668063	C	T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.302C>T	p.A101V	non-syn	rs75939866	0.0071	T=0/C=8600;T=70/C=4336;T=70/C=12936	lod=136:494	DAMAGING	B	HGMD	het	2
11	1	53668063	C	T	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.387C>T	p.C129C	syn	rs75939866	0.0071	T=0/C=8600;T=70/C=4336;T=70/C=12936	lod=136:494	DAMAGING	B	HGMD	het	2
12	1	53668099	C	T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.338C>T	p.S113L	non-syn	rs17355168	-	T=16/C=8584;T=2/C=4404;T=18/C=12988	lod=100:461	DAMAGING	D	HGMD	het	4
13	1	53668099	C	T	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.423C>T	p.F141F	syn	rs17355168	-	T=16/C=8584;T=2/C=4404;T=18/C=12988	lod=100:461	DAMAGING	D	HGMD	het	4
14	1	53668222	G	A	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.546G>A	p.T182T	syn	rs729227	0.007	-	-	-	-	-	het	1
15	1	53668223	T	A	ENST00000468572	ENSG00000157184	53662101	53679869	-	CPT2	1	-	c.547T>A	p.S183T	non-syn	rs145446223	0.0531	-	-	-	-	-	het	3
16	1	53675671	T	C	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	-	-	-16bp 3'_splice_site	rs180830030	0.0042	C=15/T=8509;C=0/T=4210;C=15/T=12719	-	-	-	-	het	1
17	1	53675699	A	G	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.353A>G	p.D118G	non-syn	rs148035648	0.0084	G=0/A=8600;G=2/A=4404;G=2/A=13004	lod=168:517	DAMAGING	D	-	het	1
18	1	53675794	A	G	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.448A>G	p.T150A	non-syn	rs141505320	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=115:476	TOLERATED	B	-	het	1
19	1	53675857	C	T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.511C>T	p.L171L	syn	rs2229292	0.0375	T=3/C=8597;T=335/C=4071;T=338/C=12668	lod=240:555	-	-	-	het	7
20	1	53675857	C	T	ENST00000371486	ENSG00000157184	53662101	53679869	ENSP00000360541	CPT2	1	CPT2_HUMAN	c.511C>T	p.L171L	syn	rs2229292	0.0375	T=3/C=8597;T=335/C=4071;T=338/C=12668	lod=240:555	-	-	-	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.

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Transcripts and variants in the surrounding CPT2 1:53662101..53679869 region Gbrowse