Gene Gene information from NCBI Gene database.
Entrez ID 8558
Gene name Cyclin dependent kinase 10
Gene symbol CDK10
Synonyms (NCBI Gene)
ALSASPISSLRE
Chromosome 16
Chromosome location 16q24.3
Summary The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle p
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs767176610 G>A Pathogenic Splice acceptor variant
rs771066826 G>A,T Pathogenic Splice donor variant
rs772157816 G>A Likely-pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1060499745 C>G,T Likely-pathogenic Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs1555516716 G>- Pathogenic Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
104
miRTarBase ID miRNA Experiments Reference
MIRT003168 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT004208 hsa-miR-197-3p Microarray 16822819
MIRT880201 hsa-miR-1273g CLIP-seq
MIRT880202 hsa-miR-1285 CLIP-seq
MIRT880203 hsa-miR-1324 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IPI 24218572
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 27104747
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603464 1770 ENSG00000185324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15131
Protein name Cyclin-dependent kinase 10 (EC 2.7.11.22) (Cell division protein kinase 10) (Serine/threonine-protein kinase PISSLRE)
Protein function Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) (PubMed:24218572). Involved in the regulation of actin cytoskeleton organization through the phos
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 39 323 Protein kinase domain Domain
Sequence
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs1060499745 RCV000454194
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Al Kaissi syndrome Likely pathogenic; Pathogenic rs766960979, rs1567520269, rs2151576627, rs2543715086, rs943211778, rs1303728412, rs2543559184, rs2060398790, rs2543628290, rs2543666277, rs2543666566, rs2543680967, rs2543713603, rs767176610, rs1555516716
View all (5 more)
RCV001526542
RCV005253855
RCV002245281
RCV002465013
RCV003329147
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay Pathogenic rs767833852 RCV002285125
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CDK10-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19846932
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 29130579
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 29130579 Associate
★☆☆☆☆
Found in Text Mining only
AL KAISSI SYNDROME AL KAISSI SYNDROME GENOMICS_ENGLAND_DG 28886341
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AL KAISSI SYNDROME AL KAISSI SYNDROME CLINVAR_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer Disease Alzheimer disease Pubtator 36988771 Stimulate
★☆☆☆☆
Found in Text Mining only
Biliary Tract Cancer Biliary Tract Cancer BEFREE 22209942
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 22209942 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10036189, 18242507, 18242510, 19846932, 22158035, 22209942, 28178678, 29512714
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18242507, 18242510, 19846932, 26209438, 33686962 Associate
★☆☆☆☆
Found in Text Mining only