The CDKL5 gene homepage

General information
Gene symbol CDKL5
Gene name cyclin-dependent kinase-like 5
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_008475.1
Transcript reference NM_001037343.1, NM_003159.2, XM_005274584.1, XM_005274585.1
Associated with diseases AS, EIEE-2, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 7
Unique public DNA variants reported 5
Individuals with public variants 6
Hidden variants 15
Date created October 29, 2013
Date last updated September 20, 2016
Version CDKL5:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11411
Entrez Gene 6792
PubMed articles CDKL5
OMIM - Gene 300203
OMIM - Diseases AS (Angelman syndrome (AS))
EIEE-2 (encephalopathy, epileptic, early infantile, type 2 (EIEE-2))
HGMD CDKL5
GeneCards CDKL5
GeneTests CDKL5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001507 X transcript variant II NM_001037343.1 NP_001032420.1 7
00001508 X transcript variant I NM_003159.2 NP_003150.1 7
00048298 X transcript variant X1 XM_005274584.1 XP_005274641.1 -
00048299 X transcript variant X2 XM_005274585.1 XP_005274642.1 -


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