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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 CARD14:

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
ENSG00000141527	CARD14	0	0	17	ENSG00000141527	ENST00000576785	ENSP00000461447	caspase recruitment domain family, member 14 [Source:HGNC Symbol;Acc:16446]	17	78143791	78183130	1	q25.3	78143791	78155368	CARD14	CARD14-009	HGNC Symbol	HGNC transcript name	15	54.29	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	79092	16446	CARD14		27509

MSeqDR Master Exome Data Set M1: 548 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	17	78155253	C	T	ENST00000344227	ENSG00000141527	78143791	78183130	ENSP00000344549	CARD14	1	CAR14_HUMAN	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
2	17	78155253	C	T	ENST00000570421	ENSG00000141527	78143791	78183130	ENSP00000461806	CARD14	1	-	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
3	17	78155253	C	T	ENST00000573882	ENSG00000141527	78143791	78183130	ENSP00000458715	CARD14	1	CAR14_HUMAN	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
4	17	78155253	C	T	ENST00000575465	ENSG00000141527	78143791	78183130	ENSP00000459244	CARD14	1	-	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
5	17	78155253	C	T	ENST00000575500	ENSG00000141527	78143791	78183130	ENSP00000460883	CARD14	1	-	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
6	17	78155253	C	T	ENST00000576785	ENSG00000141527	78143791	78183130	ENSP00000461447	CARD14	1	-	c.16C>T	p.R6C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
7	17	78155255	C	T	ENST00000344227	ENSG00000141527	78143791	78183130	ENSP00000344549	CARD14	1	CAR14_HUMAN	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
8	17	78155255	C	T	ENST00000570421	ENSG00000141527	78143791	78183130	ENSP00000461806	CARD14	1	-	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
9	17	78155255	C	T	ENST00000573882	ENSG00000141527	78143791	78183130	ENSP00000458715	CARD14	1	CAR14_HUMAN	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
10	17	78155255	C	T	ENST00000575465	ENSG00000141527	78143791	78183130	ENSP00000459244	CARD14	1	-	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
11	17	78155255	C	T	ENST00000575500	ENSG00000141527	78143791	78183130	ENSP00000460883	CARD14	1	-	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
12	17	78155255	C	T	ENST00000576785	ENSG00000141527	78143791	78183130	ENSP00000461447	CARD14	1	-	c.18C>T	p.R6R	syn	NA	-	-	lod=17:272	-	-	-	het	2
13	17	78156539	A	G	ENST00000344227	ENSG00000141527	78143791	78183130	ENSP00000344549	CARD14	1	CAR14_HUMAN	c.299A>G	p.Y100C	non-syn	NA	-	-	lod=50:387	DAMAGING	D	-	het	1
14	17	78156539	A	G	ENST00000570421	ENSG00000141527	78143791	78183130	ENSP00000461806	CARD14	1	-	c.299A>G	p.Y100C	non-syn	NA	-	-	lod=50:387	DAMAGING	D	-	het	1
15	17	78156539	A	G	ENST00000573882	ENSG00000141527	78143791	78183130	ENSP00000458715	CARD14	1	CAR14_HUMAN	c.299A>G	p.Y100C	non-syn	NA	-	-	lod=50:387	DAMAGING	D	-	het	1
16	17	78156539	A	G	ENST00000575500	ENSG00000141527	78143791	78183130	ENSP00000460883	CARD14	1	-	c.299A>G	p.Y100C	non-syn	NA	-	-	lod=50:387	DAMAGING	D	-	het	1
17	17	78157740	G	A	ENST00000344227	ENSG00000141527	78143791	78183130	ENSP00000344549	CARD14	1	CAR14_HUMAN	c.378G>A	p.E126E	syn	rs138552007	-	A=27/G=8543;A=4/G=4372;A=31/G=12915	lod=270:567	-	-	-	het	3
18	17	78157740	G	A	ENST00000570421	ENSG00000141527	78143791	78183130	ENSP00000461806	CARD14	1	-	c.378G>A	p.E126E	syn	rs138552007	-	A=27/G=8543;A=4/G=4372;A=31/G=12915	lod=270:567	-	-	-	het	3
19	17	78157740	G	A	ENST00000573882	ENSG00000141527	78143791	78183130	ENSP00000458715	CARD14	1	CAR14_HUMAN	c.378G>A	p.E126E	syn	rs138552007	-	A=27/G=8543;A=4/G=4372;A=31/G=12915	lod=270:567	-	-	-	het	3
20	17	78157740	G	A	ENST00000575500	ENSG00000141527	78143791	78183130	ENSP00000460883	CARD14	1	-	c.378G>A	p.E126E	syn	rs138552007	-	A=27/G=8543;A=4/G=4372;A=31/G=12915	lod=270:567	-	-	-	het	3

** 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**,
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Transcripts and variants in the surrounding CARD14 17:78143791..78183130 region Gbrowse