AutismKB 2.0

Evidence Details for CDKL5


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Basic Information Top
Gene Symbol:CDKL5 ( ISSX,STK9 )
Gene Full Name: cyclin-dependent kinase-like 5
Band: Xp22.13
Quick LinksEntrez ID:6792; OMIM: 300203; Uniprot ID:CDKL5_HUMAN; ENSEMBL ID: ENSG00000008086; HGNC ID: 11411
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDKL5|6792|nucleotide
ATGAAGATTCCTAACATTGGTAATGTGATGAATAAATTTGAGATCCTTGGGGTTGTAGGTGAAGGAGCCTATGGAGTTGTACTTAAATGCAGACACAAGGAAACA
CATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAA
AACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAAATATGCTCGAATTGCTGGAAGAAATGCCAAAT
GGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGATATAAAACCAGAAAAT
CTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTTTTGCTCGTAATCTGTCAGAAGGCAATAATGCTAATTACACAGAGTACGTTGCCACCAGA
TGGTATCGGTCCCCAGAACTCTTACTTGGCGCTCCCTATGGAAAGTCCGTGGACATGTGGTCGGTGGGCTGTATTCTTGGGGAGCTTAGCGATGGACAGCCTTTA
TTTCCTGGAGAAAGTGAAATTGACCAACTTTTTACTATTCAGAAGGTGCTAGGACCACTTCCATCTGAGCAGATGAAGCTTTTCTACAGTAATCCTCGCTTCCAT
GGGCTCCGGTTTCCAGCTGTTAACCATCCTCAGTCCTTGGAAAGAAGATACCTTGGAATTTTGAATAGTGTTCTACTTGACCTAATGAAGAATTTACTGAAGTTG
GACCCAGCTGACAGATACTTGACAGAACAGTGTTTGAATCACCCTACATTTCAAACCCAGAGACTTCTGGATCGTTCTCCTTCAAGGTCAGCAAAAAGAAAACCT
TACCATGTGGAAAGCAGCACATTGTCTAATAGAAACCAAGCCGGCAAAAGTACTGCTTTGCAGTCTCACCACAGATCTAACAGCAAGGACATCCAGAACCTGAGT
GTAGGCCTGCCCCGGGCTGACGAAGGTCTCCCTGCCAATGAAAGCTTCCTAAATGGAAACCTTGCTGGAGCTAGTCTTAGTCCACTGCACACCAAAACCTACCAA
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>CDKL5|6792|protein
MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPN
GVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPL
FPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKP
YHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN
IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLN
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 3 (5) 1 (1) 36 (10)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMEpileptic encephalopathy, early infantile, 2 (300672)
DescriptionRett-like syndrome with infantile spasms and severe ID in female patients
Reference(s)16611748; 19241098; 15492925;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Szafranski P, 2015 - aCGH;FISHautism 7 - - - 11 - 11
Linkage Studies Top