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| # | Reference Title | Reference Citation |
| 1. | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | Bahi-Buisson N, etal., Am J Med Genet A. 2012 Jul;158A(7):1612-9. doi: 10.1002/ajmg.a.35401. Epub 2012 Jun 7. |
| 2. | CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. | Chen Q, etal., J Neurosci. 2010 Sep 22;30(38):12777-86. doi: 10.1523/JNEUROSCI.1102-10.2010. |
| 3. | Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. | Das DK, etal., Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. | Moseley BD, etal., Pediatr Neurol. 2012 Feb;46(2):101-5. doi: 10.1016/j.pediatrneurol.2011.11.007. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. | Szafranski P, etal., Eur J Hum Genet. 2015 Jul;23(7):915-21. doi: 10.1038/ejhg.2014.217. Epub 2014 Oct 15. |
| 10. | Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development. | Zhu YC, etal., Proc Natl Acad Sci U S A. 2013 May 28;110(22):9118-23. doi: 10.1073/pnas.1300003110. Epub 2013 May 13. |
| PMID:15917271 | PMID:16935860 | PMID:20211261 | PMID:22922712 | PMID:25931508 | PMID:27940108 | PMID:29420175 | PMID:30288694 | PMID:36759195 | PMID:38877552 |
| Cdkl5 (Rattus norvegicus - Norway rat) |
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| CDKL5 (Homo sapiens - human) |
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| Cdkl5 (Mus musculus - house mouse) |
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| Cdkl5 (Chinchilla lanigera - long-tailed chinchilla) |
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| CDKL5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CDKL5 (Canis lupus familiaris - dog) |
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| Cdkl5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CDKL5 (Sus scrofa - pig) |
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| CDKL5 (Chlorocebus sabaeus - green monkey) |
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| Cdkl5 (Heterocephalus glaber - naked mole-rat) |
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| Cdkl5 (Rattus rattus - black rat) |
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Variants in Cdkl5
956 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| DXRat87 |
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| DXGot31 |
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| AU048188 |
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| RH136752 |
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| RH137814 |
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| AI577388 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 90 | 59 | 6 | 353 | 190 | 11 | 143 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001421533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017588222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017588223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017588224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017602290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039100454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039100455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | FJ807484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GU351881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000005061 ⟹ ENSRNOP00000005061 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000072627 ⟹ ENSRNOP00000067316 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000095927 ⟹ ENSRNOP00000088060 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000104285 ⟹ ENSRNOP00000078764 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000107431 ⟹ ENSRNOP00000082790 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000146106 ⟹ ENSRNOP00000105376 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000150186 ⟹ ENSRNOP00000107456 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000174042 ⟹ ENSRNOP00000098998 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001421533 ⟹ NP_001408462 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_017602290 ⟹ XP_017457779 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039100454 ⟹ XP_038956382 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039100455 ⟹ XP_038956383 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279693 ⟹ XP_063135763 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001408462 | (Get FASTA) | NCBI Sequence Viewer |
| XP_017457779 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038956382 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038956383 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135763 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | ACY73182 | (Get FASTA) | NCBI Sequence Viewer |
| ADK77880 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000005061 | ||
| ENSRNOP00000005061.6 | |||
| ENSRNOP00000067316.1 | |||
| ENSRNOP00000078764.2 | |||
| ENSRNOP00000082790.2 | |||
| ENSRNOP00000088060.2 | |||
| ENSRNOP00000098998 | |||
| ENSRNOP00000098998.1 | |||
| ENSRNOP00000105376.1 | |||
| ENSRNOP00000107456 | |||
| ENSRNOP00000107456.1 |
| RefSeq Acc Id: | XP_017457779 ⟸ XM_017602290 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I5ZVL4 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000067316 ⟸ ENSRNOT00000072627 |
| Ensembl Acc Id: | ENSRNOP00000005061 ⟸ ENSRNOT00000005061 |
| RefSeq Acc Id: | XP_038956383 ⟸ XM_039100455 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I5ZVL4 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038956382 ⟸ XM_039100454 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I5ZVL4 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000082790 ⟸ ENSRNOT00000107431 |
| Ensembl Acc Id: | ENSRNOP00000078764 ⟸ ENSRNOT00000104285 |
| Ensembl Acc Id: | ENSRNOP00000088060 ⟸ ENSRNOT00000095927 |
| RefSeq Acc Id: | NP_001408462 ⟸ NM_001421533 |
| - UniProtKB: | A0A8I6A725 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063135763 ⟸ XM_063279693 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8I6G3S6 (UniProtKB/TrEMBL), D3ZG85 (UniProtKB/TrEMBL), E1U7Q0 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000098998 ⟸ ENSRNOT00000174042 |
| Ensembl Acc Id: | ENSRNOP00000105376 ⟸ ENSRNOT00000146106 |
| Ensembl Acc Id: | ENSRNOP00000107456 ⟸ ENSRNOT00000150186 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZG85-F1-model_v2 | AlphaFold | D3ZG85 | 1-934 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:2324133 | AgrOrtholog |
| BioCyc Gene | G2FUF-2511 | BioCyc |
| Ensembl Genes | ENSRNOG00000003742 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000005061 | ENTREZGENE |
| ENSRNOT00000005061.8 | UniProtKB/TrEMBL | |
| ENSRNOT00000072627.5 | UniProtKB/TrEMBL | |
| ENSRNOT00000095927.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000104285.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000107431.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000146106.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000150186 | ENTREZGENE | |
| ENSRNOT00000150186.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000174042 | ENTREZGENE | |
| ENSRNOT00000174042.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | Phosphorylase Kinase, domain 1 | UniProtKB/TrEMBL |
| Transferase(Phosphotransferase) domain 1 | UniProtKB/TrEMBL | |
| InterPro | CDK | UniProtKB/TrEMBL |
| Kinase-like_dom | UniProtKB/TrEMBL | |
| Prot_kinase_cat_dom | UniProtKB/TrEMBL | |
| Protein_kinase_ATP_BS | UniProtKB/TrEMBL | |
| Ser/Thr_prot_kinase_AS | UniProtKB/TrEMBL | |
| NCBI Gene | 100362725 | ENTREZGENE |
| PANTHER | CELL DIVISION PROTEIN KINASE | UniProtKB/TrEMBL |
| CYCLIN-DEPENDENT KINASE-LIKE 5 | UniProtKB/TrEMBL | |
| Pfam | Pkinase | UniProtKB/TrEMBL |
| PhenoGen | Cdkl5 | PhenoGen |
| PROSITE | PROTEIN_KINASE_ATP | UniProtKB/TrEMBL |
| PROTEIN_KINASE_DOM | UniProtKB/TrEMBL | |
| PROTEIN_KINASE_ST | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000003742 | RatGTEx |
| SMART | S_TKc | UniProtKB/TrEMBL |
| Superfamily-SCOP | Kinase_like | UniProtKB/TrEMBL |
| UniProt | A0A8I5ZVL4 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6A725 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6G3S6 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0ABK0LCR6_RAT | UniProtKB/TrEMBL | |
| A0ABK0LP10_RAT | UniProtKB/TrEMBL | |
| A0ABK0LTY9_RAT | UniProtKB/TrEMBL | |
| D3ZG85 | ENTREZGENE, UniProtKB/TrEMBL | |
| E1U7Q0 | ENTREZGENE | |
| E2E1S0_RAT | UniProtKB/TrEMBL | |
| UniProt Secondary | E1U7Q0 | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2012-08-30 | Cdkl5 | cyclin-dependent kinase-like 5 | LOC100362725 | cyclin-dependent kinase-like 5 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2010-05-06 | LOC100362725 | cyclin-dependent kinase-like 5 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |