Details for: CDKL5

Gene ID: 6792

Symbol: CDKL5

Ensembl ID: ENSG00000008086

Description: cyclin dependent kinase like 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 256.0027
    Cell Significance Index: -39.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 156.1247
    Cell Significance Index: -39.6000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 77.6848
    Cell Significance Index: -31.5600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.0979
    Cell Significance Index: -31.6000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.1063
    Cell Significance Index: -39.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.7343
    Cell Significance Index: -12.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.2564
    Cell Significance Index: 144.0400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.0203
    Cell Significance Index: 114.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.7799
    Cell Significance Index: 557.6400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.1199
    Cell Significance Index: 50.8400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.1058
    Cell Significance Index: 34.7000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.0123
    Cell Significance Index: 721.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.7430
    Cell Significance Index: 49.7400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.7320
    Cell Significance Index: 106.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3286
    Cell Significance Index: 101.9600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.2167
    Cell Significance Index: 16.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1122
    Cell Significance Index: 220.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0505
    Cell Significance Index: 54.5700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.0077
    Cell Significance Index: 117.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8660
    Cell Significance Index: 598.9800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.7907
    Cell Significance Index: 53.1700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5125
    Cell Significance Index: 32.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4231
    Cell Significance Index: 381.9800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3784
    Cell Significance Index: 3.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3699
    Cell Significance Index: 66.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3602
    Cell Significance Index: 20.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3580
    Cell Significance Index: 44.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3549
    Cell Significance Index: 35.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2673
    Cell Significance Index: 34.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2077
    Cell Significance Index: 4.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2058
    Cell Significance Index: 39.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1952
    Cell Significance Index: 31.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1571
    Cell Significance Index: 4.5300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1072
    Cell Significance Index: 2.6800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0786
    Cell Significance Index: 0.9700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0746
    Cell Significance Index: 3.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0692
    Cell Significance Index: 2.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0540
    Cell Significance Index: 1.5100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0539
    Cell Significance Index: 5.8700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0519
    Cell Significance Index: 32.9400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0447
    Cell Significance Index: 82.3600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0419
    Cell Significance Index: 0.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0337
    Cell Significance Index: 63.4100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0251
    Cell Significance Index: 0.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0236
    Cell Significance Index: 36.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0049
    Cell Significance Index: 0.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0029
    Cell Significance Index: 1.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0126
    Cell Significance Index: -17.0800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0139
    Cell Significance Index: -6.1500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0203
    Cell Significance Index: -9.2000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0302
    Cell Significance Index: -22.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0352
    Cell Significance Index: -26.6200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0396
    Cell Significance Index: -5.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0493
    Cell Significance Index: -36.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0702
    Cell Significance Index: -39.6100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0713
    Cell Significance Index: -44.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0901
    Cell Significance Index: -12.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1186
    Cell Significance Index: -34.1200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1187
    Cell Significance Index: -2.5200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1328
    Cell Significance Index: -9.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1386
    Cell Significance Index: -23.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1573
    Cell Significance Index: -5.1500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1689
    Cell Significance Index: -3.3400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1692
    Cell Significance Index: -10.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1714
    Cell Significance Index: -9.0000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1746
    Cell Significance Index: -8.1400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1938
    Cell Significance Index: -2.9200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1944
    Cell Significance Index: -6.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2089
    Cell Significance Index: -44.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2169
    Cell Significance Index: -28.0200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2256
    Cell Significance Index: -3.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2350
    Cell Significance Index: -26.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2389
    Cell Significance Index: -3.2600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2535
    Cell Significance Index: -8.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2825
    Cell Significance Index: -17.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2988
    Cell Significance Index: -30.5200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3176
    Cell Significance Index: -3.4600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3195
    Cell Significance Index: -6.4200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3197
    Cell Significance Index: -7.0000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3268
    Cell Significance Index: -38.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3472
    Cell Significance Index: -36.1500
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3616
    Cell Significance Index: -4.6900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3896
    Cell Significance Index: -10.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3966
    Cell Significance Index: -20.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4052
    Cell Significance Index: -30.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4193
    Cell Significance Index: -33.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4513
    Cell Significance Index: -21.2100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4830
    Cell Significance Index: -10.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4946
    Cell Significance Index: -34.9800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5028
    Cell Significance Index: -7.2000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5151
    Cell Significance Index: -14.0200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5386
    Cell Significance Index: -34.7500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5470
    Cell Significance Index: -14.0600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5776
    Cell Significance Index: -12.4800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5873
    Cell Significance Index: -14.6500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6700
    Cell Significance Index: -23.4700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.6926
    Cell Significance Index: -30.1200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.8016
    Cell Significance Index: -16.7300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.8113
    Cell Significance Index: -9.4700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.8221
    Cell Significance Index: -5.5700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CDKL5 is a member of the cyclin-dependent kinase family, which is characterized by its ability to phosphorylate and regulate the activity of downstream targets. CDKL5 is specifically expressed in the developing nervous system, particularly in GABAergic cortical interneurons, which are involved in regulating neuronal activity and synaptic transmission. The gene is also expressed in other neuronal populations, including near-projecting glutamatergic cortical neurons and L2/3-6 intratelencephalic projecting glutamatergic neurons. **Pathways and Functions:** CDKL5 is involved in various signaling pathways that regulate neuronal development and function. These pathways include: 1. **Axon extension**: CDKL5 regulates the extension of axons by phosphorylating and activating downstream targets, such as c-Jun N-terminal kinase (JNK) and p38 mitogen-activated protein kinases (MAPKs). 2. **Dendrite morphogenesis**: CDKL5 regulates the development of dendrites by phosphorylating and activating proteins involved in the regulation of dendritic spine formation and morphology. 3. **Dendritic spine development**: CDKL5 regulates the development of dendritic spines, which are critical for synaptic plasticity and learning. 4. **Postsynapse organization**: CDKL5 regulates the organization of postsynaptic densities, which are critical for synaptic transmission and plasticity. 5. **Regulation of cell cycle**: CDKL5 regulates the cell cycle by phosphorylating and activating proteins involved in the regulation of cell proliferation and differentiation. **Clinical Significance:** Mutations in CDKL5 have been associated with severe neurodevelopmental disorders, including: 1. **Epilepsy**: CDKL5 mutations have been identified in patients with epilepsy, particularly in those with infantile spasms and myoclonic seizures. 2. **Intellectual disability**: CDKL5 mutations have been identified in patients with intellectual disability, particularly in those with autism spectrum disorder. 3. **Autism spectrum disorder**: CDKL5 mutations have been identified in patients with autism spectrum disorder, particularly in those with epilepsy and intellectual disability. In conclusion, CDKL5 is a critical regulator of neuronal development and function, and mutations in this gene can lead to severe neurodevelopmental disorders. Further research is needed to fully understand the mechanisms by which CDKL5 regulates neuronal development and function, and to develop effective therapeutic strategies for patients with CDKL5-related disorders.

Genular Protein ID: 1467748106

Symbol: CDKL5_HUMAN

Name: Serine/threonine-protein kinase 9

UniProtKB Accession Codes:

O76039 G9B9X4 Q14198 Q5H985 Q8IYC7 Q9UJL6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 3 EMBL 6 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 28 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 3 Rhea 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9721213

Title: Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

PubMed ID: 9721213

DOI: 10.1006/geno.1998.5391

PubMed ID: 12736870

Title: Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

PubMed ID: 12736870

DOI: 10.1086/375538

PubMed ID: 21748340

Title: A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

PubMed ID: 21748340

DOI: 10.1007/s00439-011-1058-x

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 8864140

Title: Differential screening leads to novel genetic markers of monocyte to macrophage maturation.

PubMed ID: 8864140

DOI: 10.1002/jlb.60.4.540

PubMed ID: 15492925

Title: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

PubMed ID: 15492925

DOI: 10.1086/426462

PubMed ID: 15917271

Title: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

PubMed ID: 15917271

DOI: 10.1093/hmg/ddi198

PubMed ID: 16935860

Title: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

PubMed ID: 16935860

DOI: 10.1074/jbc.m606325200

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 29420175

Title: CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.

PubMed ID: 29420175

DOI: 10.1016/j.celrep.2017.12.083

PubMed ID: 15499549

Title: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

PubMed ID: 15499549

DOI: 10.1086/426460

PubMed ID: 15689447

Title: CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.

PubMed ID: 15689447

DOI: 10.1136/jmg.2004.026237

PubMed ID: 16015284

Title: Early onset seizures and Rett-like features associated with mutations in CDKL5.

PubMed ID: 16015284

DOI: 10.1038/sj.ejhg.5201451

PubMed ID: 16611748

Title: CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

PubMed ID: 16611748

DOI: 10.1136/jmg.2006.041467

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 18790821

Title: Key clinical features to identify girls with CDKL5 mutations.

PubMed ID: 18790821

DOI: 10.1093/brain/awn197

PubMed ID: 17993579

Title: Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

PubMed ID: 17993579

DOI: 10.1136/jmg.2007.053504

PubMed ID: 18809835

Title: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

PubMed ID: 18809835

DOI: 10.1212/01.wnl.0000326592.37105.88

PubMed ID: 19253388

Title: A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

PubMed ID: 19253388

DOI: 10.1002/ajmg.a.32711

PubMed ID: 19241098

Title: Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

PubMed ID: 19241098

DOI: 10.1007/s10048-009-0177-1

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 24564546

Title: Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

PubMed ID: 24564546

DOI: 10.1186/1471-2350-15-24

PubMed ID: 25969726

Title: Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PubMed ID: 25969726

DOI: 10.1186/s13229-015-0017-0

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 960
  • Mass: 107519
  • Checksum: 6E955E0B40DBC1B8
  • Sequence:
    • MKIPNIGNVM NKFEILGVVG EGAYGVVLKC RHKETHEIVA IKKFKDSEEN EEVKETTLRE 
LKMLRTLKQE NIVELKEAFR RRGKLYLVFE YVEKNMLELL EEMPNGVPPE KVKSYIYQLI 
KAIHWCHKND IVHRDIKPEN LLISHNDVLK LCDFGFARNL SEGNNANYTE YVATRWYRSP 
ELLLGAPYGK SVDMWSVGCI LGELSDGQPL FPGESEIDQL FTIQKVLGPL PSEQMKLFYS 
NPRFHGLRFP AVNHPQSLER RYLGILNSVL LDLMKNLLKL DPADRYLTEQ CLNHPTFQTQ 
RLLDRSPSRS AKRKPYHVES STLSNRNQAG KSTALQSHHR SNSKDIQNLS VGLPRADEGL 
PANESFLNGN LAGASLSPLH TKTYQASSQP GSTSKDLTNN NIPHLLSPKE AKSKTEFDFN 
IDPKPSEGPG TKYLKSNSRS QQNRHSFMES SQSKAGTLQP NEKQSRHSYI DTIPQSSRSP 
SYRTKAKSHG ALSDSKSVSN LSEARAQIAE PSTSRYFPSS CLDLNSPTSP TPTRHSDTRT 
LLSPSGRNNR NEGTLDSRRT TTRHSKTMEE LKLPEHMDSS HSHSLSAPHE SFSYGLGYTS 
PFSSQQRPHR HSMYVTRDKV RAKGLDGSLS IGQGMAARAN SLQLLSPQPG EQLPPEMTVA 
RSSVKETSRE GTSSFHTRQK SEGGVYHDPH SDDGTAPKEN RHLYNDPVPR RVGSFYRVPS 
PRPDNSFHEN NVSTRVSSLP SESSSGTNHS KRQPAFDPWK SPENISHSEQ LKEKEKQGFF 
RSMKKKKKKS QTVPNSDSPD LLTLQKSIHS ASTPSSRPKE WRPEKISDLQ TQSQPLKSLR 
KLLHLSSASN HPASSDPRFQ PLTAQQTKNS FSEIRIHPLS QASGGSSNIR QEPAPKGRPA 
LQLPGQMDPG WHVSSVTRSA TEGPSYSEQL GAKSGPNGHP YNRTNRSRMP NLNDLKETAL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.