Section 1: Gene Identifiers
| Database | Identifier | Notes |
|---|
| HGNC ID | HGNC:1777 | Approved |
| HGNC Symbol | CDK6 | Approved symbol |
| HGNC Name | cyclin dependent kinase 6 | Full name |
| Ensembl Gene | ENSG00000105810 | Human genome |
| NCBI Entrez Gene | 1021 | |
| OMIM | 603368 | Gene/locus |
| Aliases | PLSTIRE, MCPH12 | Previous symbols |
| Locus Group | protein-coding gene | |
| Gene Group | Cyclin dependent kinases | |
Genomic Location
| Attribute | Value |
|---|
| Chromosome | 7 |
| Cytogenetic Band | 7q21.2 |
| Start Position | 92,604,921 |
| End Position | 92,836,591 |
| Strand | Minus (-) |
| Genomic Accession | NC_000007.14 |
| Gene Span | ~232 kb |
Section 2: Transcript Identifiers
Ensembl Transcripts (Total: 12)
| Transcript ID | Biotype | Start | End | Notes |
|---|
| ENST00000265734 | protein_coding | 92,604,921 | 92,833,917 | Canonical |
| ENST00000424848 | protein_coding | 92,604,921 | 92,836,573 | |
| ENST00000906279 | protein_coding | 92,612,104 | 92,836,591 | |
| ENST00000906280 | protein_coding | 92,609,875 | 92,834,095 | |
| ENST00000906281 | protein_coding | 92,611,541 | 92,833,959 | |
| ENST00000906282 | protein_coding | 92,613,905 | 92,835,935 | |
| ENST00000906283 | protein_coding | 92,614,452 | 92,833,954 | |
| ENST00000930022 | protein_coding | 92,614,452 | 92,833,959 | |
| ENST00000961497 | protein_coding | 92,614,467 | 92,833,933 | |
| ENST00000467166 | retained_intron | 92,614,714 | 92,618,277 | Non-coding |
| ENST00000473078 | retained_intron | 92,671,235 | 92,725,710 | Non-coding |
| ENST00000491250 | protein_coding_CDS_not_defined | 92,833,403 | 92,835,297 | |
RefSeq Transcripts (Human, Reviewed)
| RefSeq ID | Type | Status | MANE Select |
|---|
| NM_001145306 | mRNA | REVIEWED | ✓ Yes |
| NM_001259 | mRNA | REVIEWED | No |
| NP_001138778 | protein | REVIEWED | ✓ (MANE) |
| NP_001250 | protein | REVIEWED | No |
CCDS Identifier
| ID | Notes |
|---|
| CCDS5628 | Consensus coding sequence |
Exons for Canonical Transcript (ENST00000265734)
Total Exon Count: 8
| Exon ID | Start | End | Strand |
|---|
| ENSE00001337042 | 92,833,873 | 92,833,917 | - |
| ENSE00001132651 | 92,833,091 | 92,833,690 | - |
| ENSE00000877375 | 92,774,696 | 92,774,831 | - |
| ENSE00000877376 | 92,725,626 | 92,725,793 | - |
| ENSE00001764561 | 92,671,426 | 92,671,535 | - |
| ENSE00000705202 | 92,623,036 | 92,623,086 | - |
| ENSE00000705199 | 92,618,072 | 92,618,207 | - |
| ENSE00001132644 | 92,604,921 | 92,615,286 | - |
Section 3: Protein Identifiers
UniProt Accession
| Accession | Name | Status | Mass | Length |
|---|
| Q00534 | Cyclin-dependent kinase 6 | Reviewed (Swiss-Prot) | 36,938 Da | 326 aa |
Alternative Names:
- Cell division protein kinase 6
- Serine/threonine-protein kinase PLSTIRE
RefSeq Protein Accessions (Human)
| RefSeq ID | Status | MANE |
|---|
| NP_001138778 | REVIEWED | ✓ |
| NP_001250 | REVIEWED | |
Protein Domains and Families (InterPro)
| InterPro ID | Name | Type |
|---|
| IPR028788 | CDK6 | Family |
| IPR050108 | CDK | Family |
| IPR000719 | Prot_kinase_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous superfamily |
| IPR008271 | Ser/Thr_kinase_AS | Active site |
| IPR017441 | Protein_kinase_ATP_BS | Binding site |
Enzyme Classification: EC 2.7.11.22 (Cyclin-dependent kinase)
Section 4: Structure Identifiers
Experimental Structures (PDB)
Total PDB Structure Count: 22
| PDB ID | Method | Resolution | Description |
|---|
| 9PE8 | X-ray | 1.80 Å | CDK6 with PF-07220060 |
| 1BLX | X-ray | 1.90 Å | P19INK4D/CDK6 complex |
| 6OQO | X-ray | 1.98 Å | CDK6 with Cpd24 |
| 9D8U | X-ray | 2.00 Å | CDK6 with atirmociclib |
| 9PE7 | X-ray | 2.05 Å | CDK6 with compound 6 |
| 5L2S | X-ray | 2.27 Å | CDK6 with Abemaciclib |
| 4AUA | X-ray | 2.31 Å | Liganded CDK6 |
| 5L2T | X-ray | 2.37 Å | CDK6 with Ribociclib |
| 3NUP | X-ray | 2.60 Å | Monomeric CDK6 with inhibitor |
| 3NUX | X-ray | 2.70 Å | Monomeric CDK6 with inhibitor |
| 4EZ5 | X-ray | 2.70 Å | CDK6 with inhibitor |
| 6OQL | X-ray | 2.71 Å | CDK6 with Cpd13 |
| 5L2I | X-ray | 2.75 Å | CDK6 with Palbociclib |
| 8I0M | X-ray | 2.78 Å | CDK6 with inhibitor |
| 2F2C | X-ray | 2.80 Å | CDK6-Vcyclin with aminopurvalanol |
| 1BI8 | X-ray | 2.80 Å | CDK6-P19INK4D complex |
| 4TTH | X-ray | 2.90 Å | CDK6/Vcyclin with inhibitor |
| 1G3N | X-ray | 2.90 Å | P18INK4C-CDK6-K-cyclin ternary |
| 1XO2 | X-ray | 2.90 Å | CDK6 with fisetin |
| 2EUF | X-ray | 3.00 Å | CDK6-Vcyclin with PD0332991 |
| 1JOW | X-ray | 3.10 Å | CDK6 with viral cyclin |
| 1BI7 | X-ray | 3.40 Å | CDK6-P16INK4A complex |
Predicted Structures (AlphaFold)
| Model ID | pLDDT Score | Sequence Length | High Confidence Fraction |
|---|
| AF-Q00534 | 85.81 | 2600 | 63% |
Section 5: Cross-Species Orthologs
| Organism | Gene ID | Symbol | Biotype |
|---|
| Mouse (Mus musculus) | ENSMUSG00000040274 | Cdk6 | protein_coding |
| Rat (Rattus norvegicus) | ENSRNOG00000009258 | Cdk6 | protein_coding |
| Zebrafish (Danio rerio) | ENSDARG00000070228 | cdk6 | protein_coding |
| Drosophila melanogaster | No direct ortholog | - | CDK family members exist |
| C. elegans | No direct ortholog | - | CDK family members exist |
| S. cerevisiae | No direct ortholog | - | CDK family members exist |
Section 6: Clinical Variants & AI Predictions
ClinVar Variants
Total Variant Count: 53
Classification Breakdown:
| Classification | Count |
|---|
| Pathogenic | 1 |
| Likely Pathogenic | 0 |
| Uncertain Significance (VUS) | 14 |
| Likely Benign | 11 |
| Benign | 16 |
| Conflicting | 1 |
| Other/No Classification | 10 |
Pathogenic/Likely Pathogenic Variants:
| ClinVar ID | HGVS Notation | Protein Change | Condition |
|---|
| 157508 | NM_001145306.2:c.589G>A | p.Ala197Thr | Primary microcephaly |
Top VUS Variants:
| ClinVar ID | HGVS Notation | Protein Change |
|---|
| 2407985 | c.700G>A | p.Val234Met |
| 2479703 | c.535G>T | p.Val179Leu |
| 2532596 | c.484G>A | p.Ala162Thr |
| 2536616 | c.659G>A | p.Arg220His |
| 2537802 | c.697G>A | p.Asp233Asn |
| 3141600 | c.160A>G | p.Met54Val |
| 3141601 | c.25G>C | p.Ala9Pro |
| 3141602 | c.395G>C | p.Gly132Ala |
| 3141603 | c.493G>A | p.Gly165Ser |
| 434659 | c.775G>A | p.Ala259Thr |
AI-Based Splice Effect Predictions (SpliceAI)
Total Predictions: 2,308
Top 50 Predicted Splice-Altering Variants (by delta score):
| Variant | Effect | Delta Score |
|---|
| 7:92614796:G>C | donor_gain | 0.99 |
| 7:92614991:T>A | donor_gain | 0.99 |
| 7:92614780:A>AC | donor_gain | 0.95 |
| 7:92614791:A>C | donor_gain | 0.94 |
| 7:92614748:A>AC | donor_gain | 0.93 |
| 7:92614785:A>C | donor_gain | 0.93 |
| 7:92614807:A>AC | donor_gain | 0.91 |
| 7:92614814:A>AC | donor_gain | 0.83 |
| 7:92614815:C>CC | donor_gain | 0.83 |
| 7:92615091:C>CT | donor_gain | 0.76 |
| 7:92615037:T>TA | donor_gain | 0.75 |
| 7:92614904:T>C | acceptor_gain | 0.73 |
| 7:92610181:T>A | donor_gain | 0.73 |
| 7:92610174:G>C | donor_gain | 0.72 |
| 7:92614950:A>C | donor_gain | 0.69 |
| 7:92615006:AG>A | donor_gain | 0.68 |
| 7:92615004:AGAG>A | donor_gain | 0.63 |
| 7:92614753:CAAA>C | donor_gain | 0.62 |
| 7:92608580:AGCG>A | donor_gain | 0.61 |
| 7:92615049:T>TA | donor_gain | 0.61 |
AI-Based Missense Pathogenicity Predictions (AlphaMissense)
Total Predictions: 2,126
The majority of missense variants are classified as likely_benign by AlphaMissense, consistent with CDK6 being relatively tolerant to missense variation in non-critical residues.
| Position Region | Sample Variants | AlphaMissense Class |
|---|
| C-terminal (310-326) | A326V, T325I, N324K, etc. | likely_benign (scores 0.05-0.21) |
| Mid-protein (200-309) | Various | likely_benign to ambiguous |
| N-terminal/kinase core | Higher pathogenicity scores | ambiguous to likely_pathogenic |
Section 7: Biological Pathways & Gene Ontology
Reactome Pathways (Total: 9)
| Pathway ID | Pathway Name | Disease Pathway |
|---|
| R-HSA-69231 | Cyclin D associated events in G1 | No |
| R-HSA-2559580 | Oxidative Stress Induced Senescence | No |
| R-HSA-2559582 | Senescence-Associated Secretory Phenotype (SASP) | No |
| R-HSA-2559585 | Oncogene Induced Senescence | No |
| R-HSA-8934593 | Regulation of RUNX1 Expression and Activity | No |
| R-HSA-9754119 | Drug-mediated inhibition of CDK4/CDK6 activity | No |
| R-HSA-9630794 | Evasion of OIS Due to Defective p16INK4A binding | Yes |
| R-HSA-9632700 | Evasion of OSIS Due to Defective p16INK4A binding | Yes |
| R-HSA-9661069 | Defective binding of RB1 mutants to E2F1,2,3 | Yes |
Gene Ontology Annotations (Total: 48)
Molecular Function (6 terms)
| GO ID | Term |
|---|
| GO:0004693 | cyclin-dependent protein serine/threonine kinase activity |
| GO:0005524 | ATP binding |
| GO:0030332 | cyclin binding |
| GO:0098770 | FBXO family protein binding |
| GO:0106310 | protein serine kinase activity |
Cellular Component (10 terms)
| GO ID | Term |
|---|
| GO:0000307 | cyclin-dependent protein kinase holoenzyme complex |
| GO:0097131 | cyclin D1-CDK6 complex |
| GO:0097132 | cyclin D2-CDK6 complex |
| GO:0097133 | cyclin D3-CDK6 complex |
| GO:0005634 | nucleus |
| GO:0005654 | nucleoplasm |
| GO:0005737 | cytoplasm |
| GO:0005813 | centrosome |
| GO:0005829 | cytosol |
| GO:0001726 | ruffle |
Biological Process (32 terms - Top 20)
| GO ID | Term |
|---|
| GO:0000082 | G1/S transition of mitotic cell cycle |
| GO:0051726 | regulation of cell cycle |
| GO:0051301 | cell division |
| GO:0000122 | negative regulation of transcription by RNA polymerase II |
| GO:0001954 | positive regulation of cell-matrix adhesion |
| GO:0003323 | type B pancreatic cell development |
| GO:0006974 | DNA damage response |
| GO:0007165 | signal transduction |
| GO:0007219 | Notch signaling pathway |
| GO:0008285 | negative regulation of cell population proliferation |
| GO:0009615 | response to virus |
| GO:0010389 | regulation of G2/M transition of mitotic cell cycle |
| GO:0010468 | regulation of gene expression |
| GO:0010628 | positive regulation of gene expression |
| GO:0014002 | astrocyte development |
| GO:0021542 | dentate gyrus development |
| GO:0021670 | lateral ventricle development |
| GO:0033077 | T cell differentiation in thymus |
| GO:0042063 | gliogenesis |
| GO:0045786 | negative regulation of cell cycle |
Section 8: Protein Interactions & Molecular Networks
Protein-Protein Interactions
- STRING interactions: 6,068+
- IntAct interactions: 281+
- BioGRID interactions: 408
Top 50 STRING Interactors (by confidence score)
| UniProt ID | Gene | Score | Description |
|---|
| P42771 | CDKN2A | 999 | p16INK4a - CDK inhibitor |
| Q96S94 | CDKN2C | 999 | p18INK4c - CDK inhibitor |
| P24385 | CCND1 | 998 | Cyclin D1 |
| P42772 | CDKN2B | 998 | p15INK4b - CDK inhibitor |
| P30279 | CCND2 | 997 | Cyclin D2 |
| P30281 | CCND3 | 997 | Cyclin D3 |
| P42773 | CDKN2D | 997 | p19INK4d - CDK inhibitor |
| P55273 | CDKN2D | 997 | CDK inhibitor |
| P38936 | CDKN1A | 995 | p21Cip1 - CDK inhibitor |
| P20248 | CCNA2 | 994 | Cyclin A2 |
| P78396 | CCNA1 | 987 | Cyclin A1 |
| P46527 | CDKN1B | 984 | p27Kip1 - CDK inhibitor |
| P11802 | CDK4 | 983 | Cyclin-dependent kinase 4 |
| P24941 | CDK2 | 963 | Cyclin-dependent kinase 2 |
| P24864 | CCNE1 | 885 | Cyclin E1 |
| Q16543 | CDC37 | 883 | Hsp90 co-chaperone |
| Q16667 | CDKN3 | 877 | CDK-associated phosphatase |
| P40763 | STAT3 | 872 | Signal transducer |
| Q01094 | E2F1 | 856 | E2F transcription factor 1 |
| P06400 | RB1 | 841 | Retinoblastoma protein |
| P14635 | CCNB1 | 839 | Cyclin B1 |
| P30304 | CDC25A | 806 | Cell division cycle 25A |
| P49918 | CDKN1C | 782 | p57Kip2 - CDK inhibitor |
| P60484 | PTEN | 774 | Phosphatase and tensin homolog |
| P04637 | TP53 | 771 | Tumor protein p53 |
Key Interacting Proteins from IntAct (High Confidence ≥0.9)
| Partner Gene | Interaction Type | Confidence |
|---|
| CCND3 | physical association | 0.97 |
| CDKN2C | physical association | 0.97 |
| CDKN2D | physical association | 0.96 |
| CDKN2A | direct interaction | 0.95 |
| CDKN2B | physical association | 0.92 |
| CCND1 | association | 0.88 |
Protein Similarity
Sequence Homology (DIAMOND) - Total: 44 similar proteins
Top homologs:
| UniProt | Identity | Bitscore | Description |
|---|
| P11802 (CDK4) | 97.0% | 599 | Human CDK4 |
| P30285 (CDK4) | 98.7% | 603 | Mouse Cdk4 |
| P35426 (CDK4) | 98.7% | 605 | Rat Cdk4 |
| Q64261 (CDK6) | 96.3% | 632 | Mouse Cdk6 |
| P97874 | 96.7% | 2496 | High similarity |
Structural/Embedding Similarity (ESM2) - Total: 54 similar proteins
Top similar proteins:
| UniProt | Similarity | Description |
|---|
| P11802 (CDK4) | 0.9997 | Human CDK4 |
| P50750 (CDK9) | 0.9999 | Human CDK9 |
| P50613 (CDK7) | 0.9998 | Human CDK7 |
| Q03147 (CDK7) | 0.9998 | Mouse Cdk7 |
| Q641Z4 (CDK6) | 1.0000 | Rat Cdk6 |
Section 9: Transcription Factor Regulatory Data
Note: CDK6 is NOT a transcription factor. This section describes transcriptional regulation OF CDK6.
Upstream Regulators (TFs that regulate CDK6 expression)
Total: 25 known regulators
| TF Gene | Regulation Type | Confidence |
|---|
| MYC | Activation | Low |
| NFKB2 | Activation | - |
| NFKB | Activation | Low |
| RELA | Activation | - |
| GATA1 | Repression | - |
| GLI3 | Repression | - |
| NANOG | Repression | High |
| NR3C1 | Repression | - |
| PAX6 | Repression | High |
| SMAD6 | Repression | High |
| SP1 | Repression | High |
| TCF3 | Repression | - |
| ZNF382 | Repression | Low |
| AR | Unknown | - |
| MAFK | Unknown | High |
| SPI1 | Unknown | High |
| ID1 | Unknown | Low |
| KDM2A | Unknown | Low |
| MITF | Unknown | Low |
| MYB | Unknown | Low |
| RBPJ | Unknown | Low |
| RUNX1 | Unknown | Low |
| STAT5B | Unknown | Low |
| TP53 | Unknown | Low |
| TRIP6 | Unknown | - |
Section 10: Drug & Pharmacology Data
ChEMBL Target Information
| Target ID | Target Name | Type |
|---|
| CHEMBL2508 | Cyclin-dependent kinase 6 | SINGLE PROTEIN |
| CHEMBL2111455 | CDK6/cyclin D1 | PROTEIN COMPLEX |
| CHEMBL2111448 | CDK6/cyclin D3 | PROTEIN COMPLEX |
| CHEMBL3301386 | CDK6/cyclin D2 | PROTEIN COMPLEX |
| CHEMBL3885553 | Cyclin-dependent kinase 4/6 | PROTEIN FAMILY |
Targeting Molecules by Development Phase
FDA-Approved (Phase 4) Drugs - 6 compounds
| ChEMBL ID | Drug Name | Type | Mechanism |
|---|
| CHEMBL189963 | Palbociclib (Ibrance) | Small molecule | CDK4/6 inhibitor |
| CHEMBL3301610 | Abemaciclib (Verzenio) | Small molecule | CDK4/6 inhibitor |
| CHEMBL3545110 | Ribociclib (Kisqali) | Small molecule | CDK4/6 inhibitor |
| CHEMBL1078178 | Momelotinib | Small molecule | JAK/CDK6 inhibitor |
| CHEMBL1336 | Sorafenib | Small molecule | Multi-kinase inhibitor |
| CHEMBL2028663 | Dabrafenib | Small molecule | BRAF/CDK6 inhibitor |
Phase 3 Clinical Trials - 6 compounds
| ChEMBL ID | Drug Name | Type |
|---|
| CHEMBL2103840 | Dinaciclib | Small molecule |
| CHEMBL3904602 | Lerociclib | Small molecule |
| CHEMBL428690 | Alvocidib (Flavopiridol) | Small molecule |
| CHEMBL50 | Quercetin | Natural product |
| CHEMBL522892 | Dovitinib | Small molecule |
| CHEMBL603469 | Lestaurtinib | Small molecule |
Phase 2 Clinical Trials
| ChEMBL ID | Drug Name |
|---|
| CHEMBL14762 | Seliciclib (Roscovitine) |
| CHEMBL1944698 | Zotiraciclib |
| CHEMBL31574 | Fisetin |
PharmGKB Pharmacogenomics
| PharmGKB ID | Symbol | VIP Status | CPIC Guidelines |
|---|
| PA103 | CDK6 | Yes (VIP Gene) | No |
VIP = Very Important Pharmacogene
Section 11: Expression Profiles
Tissue Expression Summary (Bgee)
| Attribute | Value |
|---|
| Expression Pattern | Ubiquitous |
| Total Tissues with Expression | 262 |
| Max Expression Score | 97.02 |
| Average Expression Score | 75.20 |
| Gold Quality Conditions | 273 |
Top 30 Expressing Tissues
| Rank | Tissue (UBERON) | Expression Score | Quality |
|---|
| 1 | Adrenal tissue | 97.02 | Gold |
| 2 | Trabecular bone tissue | 94.70 | Gold |
| 3 | Pylorus | 94.25 | Gold |
| 4 | Caput epididymis | 93.50 | Gold |
| 5 | Cardia of stomach | 92.26 | Gold |
| 6 | Cartilage tissue | 92.05 | Gold |
| 7 | Mucosa of paranasal sinus | 91.10 | Gold |
| 8 | Nipple | 90.80 | Gold |
| 9 | Parietal pleura | 90.43 | Gold |
| 10 | Oral cavity | 90.36 | Gold |
| 11 | Mucosa of sigmoid colon | 90.21 | Gold |
| 12 | Inferior vagus X ganglion | 88.96 | Gold |
| 13 | Bone marrow | 88.90 | Gold |
| 14 | Renal medulla | 88.48 | Gold |
| 15 | Colonic epithelium | 88.20 | Gold |
| 16 | Pleura | 88.18 | Gold |
| 17 | Skin of hip | 88.15 | Gold |
| 18 | Cauda epididymis | 88.01 | Gold |
| 19 | Colonic mucosa | 87.96 | Gold |
| 20 | Male germ line stem cell in testis | 87.70 | Gold |
| 21 | Upper leg skin | 87.47 | Gold |
| 22 | Visceral pleura | 87.43 | Gold |
| 23 | Mammalian vulva | 87.36 | Gold |
| 24 | Jejunal mucosa | 86.84 | Gold |
| 25 | Superior surface of tongue | 86.65 | Gold |
| 26 | Mammary duct | 86.56 | Gold |
| 27 | Tibia | 86.17 | Gold |
| 28 | Pigmented layer of retina | 85.91 | Gold |
| 29 | Retina | 85.89 | Gold |
| 30 | Ventricular zone | 85.70 | Gold |
Single-Cell Expression Data (Total: 12 datasets)
| Dataset ID | Description | Cells |
|---|
| E-HCAD-8 | T cell activation atlas | 126,870 |
| E-MTAB-8495 | Human biliary tree | 160,459 |
| E-CURD-77 | COVID-19 lymphocyte atlas | 62,076 |
| E-HCAD-6 | CD34+ bone marrow cells | 34,596 |
| E-MTAB-8884 | CMML stem cells | 9,386 |
| E-MTAB-10432 | Post-MI bone vascular niche | 8,228 |
| E-MTAB-9388 | Human gastrulation atlas | 1,195 |
| E-GEOD-75140 | Cerebral organoids | 734 |
| E-ENAD-20 | PDX model (BRAF/MEK) | 674 |
| E-GEOD-86618 | IPF lung epithelium | 540 |
| E-GEOD-100618 | Haemopoietic progenitors | 415 |
| E-MTAB-4850 | Antigen-specific T cells | 63 |
Section 12: Disease Associations
Mendelian Disease Links
| Disease | Disease ID | Inheritance | Evidence |
|---|
| Primary Microcephaly 12, Autosomal Recessive (MCPH12) | OMIM:616080 | AR | Limited (GenCC) |
| Autosomal Recessive Primary Microcephaly | ORPHANET:2512 | AR | Supportive (Orphanet) |
Clinical Description: Mutations in CDK6 resulting in reduced cell proliferation, impaired cell motility and polarity have been identified in patients with primary microcephaly.
HPO Phenotype Associations (Total: 23)
| HPO ID | Phenotype Term |
|---|
| HP:0011451 | Primary microcephaly |
| HP:0000252 | Microcephaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001263 | Global developmental delay |
| HP:0001256 | Mild intellectual disability |
| HP:0010864 | Severe intellectual disability |
| HP:0001510 | Growth delay |
| HP:0004322 | Short stature |
| HP:0001250 | Seizure |
| HP:0001347 | Hyperreflexia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0001302 | Pachygyria |
| HP:0009879 | Simplified gyral pattern |
| HP:0002282 | Gray matter heterotopia |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0000340 | Sloping forehead |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000122 | Unilateral renal agenesis |
| HP:0003103 | Abnormal cortical bone morphology |
| HP:0003577 | Congenital onset |
GWAS Trait Associations (Total: 132)
Top 30 associations by significance:
| Trait | Study ID | P-value |
|---|
| Basophil count | GCST90002379 | 1×10⁻¹⁴¹ |
| Appendicular lean mass | GCST90000025 | 4×10⁻¹⁰⁶ |
| Height | GCST000817 | 8×10⁻⁴⁷ |
| Myeloid white cell count | GCST004626 | 3×10⁻⁷³ |
| White blood cell count | GCST005973 | 2×10⁻⁷⁰ |
| Sum neutrophil eosinophil counts | GCST004613 | 4×10⁻⁶⁴ |
| Granulocyte count | GCST004614 | 2×10⁻⁶⁵ |
| Monocyte count | GCST004625 | 4×10⁻⁵⁹ |
| Neutrophil count | GCST004629 | 1×10⁻⁵⁸ |
| Basophil percentage | GCST90002380 | 1×10⁻⁵⁴ |
| Eosinophil count | GCST90002381 | 5×10⁻⁴⁹ |
| Neutrophil count | GCST005974 | 4×10⁻⁴⁶ |
| Hip circumference (BMI adj) | GCST012227 | 4×10⁻³⁷ |
| Pulse pressure | GCST007269 | 2×10⁻³² |
| Basophil count | GCST004618 | 5×10⁻³¹ |
| Height | GCST008839 | 6×10⁻³⁰ |
| Monocyte percentage | GCST004609 | 6×10⁻²⁸ |
| Granulocyte percentage | GCST004608 | 2×10⁻²⁸ |
| Lymphocyte percentage | GCST004632 | 2×10⁻²⁷ |
| Heel bone mineral density | GCST006979 | 5×10⁻²⁷ |
| Pulse pressure | GCST007096 | 6×10⁻²⁵ |
| Hip circumference (BMI adj) | GCST012227 | 2×10⁻²⁹ |
| Waist circumference (BMI adj) | GCST012226 | 1×10⁻¹⁹ |
| Body fat distribution | GCST007294 | 3×10⁻¹⁹ |
| Eosinophil count | GCST004606 | 2×10⁻¹⁸ |
| Height | GCST008163 | 4×10⁻¹⁸ |
| Monocyte count | GCST005977 | 7×10⁻¹⁸ |
| Eosinophil count | GCST005975 | 5×10⁻¹⁷ |
| Body fat distribution (leg) | GCST007295 | 6×10⁻¹⁷ |
| White blood cell count | GCST004610 | 2×10⁻⁶⁵ |
Key GWAS Trait Categories:
- Hematological traits: White blood cell counts, neutrophil/basophil/eosinophil counts
- Anthropometric traits: Height, body composition, hip/waist circumference
- Cardiovascular: Blood pressure, pulse pressure, atrial fibrillation
- Skeletal: Bone mineral density
- Autoimmune: Rheumatoid arthritis
SUMMARY STATISTICS
| Category | Count |
|---|
| Total database cross-references | ~16,000+ |
| Ensembl transcripts | 12 |
| RefSeq transcripts (human) | 4 (2 mRNA, 2 protein) |
| PDB structures | 22 |
| ClinVar variants | 53 |
| SpliceAI predictions | 2,308 |
| AlphaMissense predictions | 2,126 |
| GO annotations | 48 |
| Reactome pathways | 9 |
| STRING interactions | 6,068+ |
| IntAct interactions | 281+ |
| ChEMBL targeting molecules | 100+ |
| FDA-approved drugs | 6 |
| GWAS associations | 132 |
| HPO phenotypes | 23 |
| Expression tissues | 262 |
| Single-cell datasets | 12 |
Reference compiled from: HGNC, Ensembl, NCBI Entrez, UniProt, PDB, AlphaFold, ClinVar, SpliceAI, AlphaMissense, Reactome, Gene Ontology, STRING, IntAct, BioGRID, ChEMBL, PharmGKB, Bgee, GWAS
Catalog, HPO, OMIM, Orphanet, GenCC, CollecTRI, and Single Cell Expression Atlas.