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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 CDKL5:

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
ENSG00000008086	CDKL5	1	10	265	ENSG00000008086	ENST00000379996	ENSP00000369332	cyclin-dependent kinase-like 5 [Source:HGNC Symbol;Acc:11411]	X	18443703	18671749	1	p22.13	18443703	18671749	CDKL5	CDKL5-002	HGNC Symbol	HGNC transcript name	3	40.21	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6792	11411	CDKL5	NM_003159	27516

MSeqDR Master Exome Data Set M1: 50 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	X	18582646	G	-ATAT	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	6
2	X	18582646	G	-ATAT	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	6
3	X	18582646	G	-AT	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	14
4	X	18582646	G	-AT	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
5	X	18582646	G	+AT	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
6	X	18582646	G	-AT	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	14
7	X	18582646	G	-AT	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
8	X	18582646	G	+AT	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
9	X	18582659	A	G	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	+17bp 5'_splice_site	rs199814742	-	G=34/A=6226;G=0/A=3366;G=34/A=9592	-	-	-	-	het	3
10	X	18582659	A	G	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	-	-	+17bp 5'_splice_site	rs199814742	-	G=34/A=6226;G=0/A=3366;G=34/A=9592	-	-	-	-	het	3
11	X	18593520	T	G	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	c.192T>G	p.L64L	syn	rs145496868	-	G=3/T=6725;G=0/T=3835;G=3/T=10560	lod=353:596	-	-	-	hom	1
12	X	18593520	T	G	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	c.192T>G	p.L64L	syn	rs145496868	-	G=3/T=6725;G=0/T=3835;G=3/T=10560	lod=353:596	-	-	-	het	2
13	X	18593520	T	G	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	c.192T>G	p.L64L	syn	rs145496868	-	G=3/T=6725;G=0/T=3835;G=3/T=10560	lod=353:596	-	-	-	hom	1
14	X	18593520	T	G	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	c.192T>G	p.L64L	syn	rs145496868	-	G=3/T=6725;G=0/T=3835;G=3/T=10560	lod=353:596	-	-	-	het	2
15	X	18597976	C	T	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	c.291C>T	p.L97L	syn	rs138125282	-	T=0/C=6728;T=2/C=3833;T=2/C=10561	lod=384:605	-	-	-	het	1
16	X	18597976	C	T	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	c.291C>T	p.L97L	syn	rs138125282	-	T=0/C=6728;T=2/C=3833;T=2/C=10561	lod=384:605	-	-	-	hom	1
17	X	18597976	C	T	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	c.291C>T	p.L97L	syn	rs138125282	-	T=0/C=6728;T=2/C=3833;T=2/C=10561	lod=384:605	-	-	-	het	1
18	X	18597976	C	T	ENST00000379996	ENSG00000008086	18443703	18671749	ENSP00000369332	CDKL5	1	CDKL5_HUMAN	c.291C>T	p.L97L	syn	rs138125282	-	T=0/C=6728;T=2/C=3833;T=2/C=10561	lod=384:605	-	-	-	hom	1
19	X	18606055	C	G	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	-19bp 3'_splice_site	rs75057928	0.0986	G=3/C=6725;G=256/C=3579;G=259/C=10304	-	-	-	-	hom	6
20	X	18606055	C	G	ENST00000379989	ENSG00000008086	18443703	18671749	ENSP00000369325	CDKL5	1	CDKL5_HUMAN	-	-	-19bp 3'_splice_site	rs75057928	0.0986	G=3/C=6725;G=256/C=3579;G=259/C=10304	-	-	-	-	het	17

** 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 CDKL5 X:18443703..18671749 region Gbrowse