CEP85
gene geneOn this page
Also known as DKFZP434L0117
Summary
CEP85 (centrosomal protein 85, HGNC:25309) is a protein-coding gene on chromosome 1p36.11, encoding Centrosomal protein of 85 kDa (Q6P2H3). Acts as a regulator of centriole duplication through a direct interaction with STIL, a key factor involved in the early steps of centriole formation. It is a selective cancer dependency (DepMap: 30.1% of cell lines).
This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 64793 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 127 total
- Cancer dependency (DepMap): dependent in 30.1% of screened cell lines
- MANE Select transcript:
NM_001319944
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25309 |
| Approved symbol | CEP85 |
| Name | centrosomal protein 85 |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP434L0117 |
| Ensembl gene | ENSG00000130695 |
| Ensembl biotype | protein_coding |
| OMIM | 618898 |
| Entrez | 64793 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 18 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000252992, ENST00000451429, ENST00000453146, ENST00000468163, ENST00000469609, ENST00000480446, ENST00000491670, ENST00000640292, ENST00000861245, ENST00000861246, ENST00000861247, ENST00000861248, ENST00000861249, ENST00000928439, ENST00000928440, ENST00000928441, ENST00000928442, ENST00000928443, ENST00000928444, ENST00000928445, ENST00000928446, ENST00000942372
RefSeq mRNA: 4 — MANE Select: NM_001319944
NM_001281517, NM_001281518, NM_001319944, NM_022778
CCDS: CCDS277, CCDS60038, CCDS81285
Canonical transcript exons
ENST00000451429 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000896423 | 26268483 | 26268635 |
| ENSE00001065297 | 26244166 | 26244318 |
| ENSE00001065299 | 26255171 | 26255865 |
| ENSE00001065306 | 26258143 | 26258260 |
| ENSE00001065308 | 26257597 | 26257730 |
| ENSE00001235611 | 26259617 | 26259802 |
| ENSE00001634003 | 26277136 | 26278808 |
| ENSE00001954842 | 26234200 | 26234310 |
| ENSE00002185613 | 26239762 | 26239838 |
| ENSE00003502005 | 26272021 | 26272071 |
| ENSE00003512969 | 26276535 | 26276760 |
| ENSE00003568237 | 26274964 | 26275071 |
| ENSE00003581522 | 26271014 | 26271107 |
| ENSE00003585107 | 26269460 | 26269614 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 96.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6700 / max 215.0675, expressed in 1724 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1570 | 13.2423 | 1673 |
| 1569 | 3.1760 | 1245 |
| 1573 | 0.1044 | 26 |
| 1575 | 0.0906 | 23 |
| 1572 | 0.0566 | 24 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 96.65 | gold quality |
| secondary oocyte | CL:0000655 | 96.64 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.76 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.55 | gold quality |
| diaphragm | UBERON:0001103 | 95.34 | silver quality |
| gastrocnemius | UBERON:0001388 | 93.58 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.40 | gold quality |
| apex of heart | UBERON:0002098 | 93.40 | gold quality |
| muscle of leg | UBERON:0001383 | 93.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.15 | gold quality |
| muscle organ | UBERON:0001630 | 93.09 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 93.09 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.62 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.50 | gold quality |
| biceps brachii | UBERON:0001507 | 92.26 | gold quality |
| triceps brachii | UBERON:0001509 | 91.65 | gold quality |
| right testis | UBERON:0004534 | 91.39 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.93 | gold quality |
| muscle tissue | UBERON:0002385 | 90.73 | gold quality |
| left testis | UBERON:0004533 | 90.73 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.64 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.34 | gold quality |
| deltoid | UBERON:0001476 | 90.01 | silver quality |
| sural nerve | UBERON:0015488 | 90.00 | gold quality |
| testis | UBERON:0000473 | 89.66 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.36 | gold quality |
| gluteal muscle | UBERON:0002000 | 88.27 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.65 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 87.52 | gold quality |
| heart | UBERON:0000948 | 86.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
89 targeting CEP85, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 30.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Cep85 is a bona fide Nek2A-binding partner that surrounds the proximal ends of centrioles where it cooperates with PP1gamma (also known as PPP1CC) to antagonize Nek2A (PMID:26220856)
- Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly. (PMID:29712910)
- Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration. (PMID:32107292)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep85 | ENSDARG00000060215 |
| mus_musculus | Cep85 | ENSMUSG00000037443 |
| rattus_norvegicus | Cep85 | ENSRNOG00000016249 |
Paralogs (1): CEP85L (ENSG00000111860)
Protein
Protein identifiers
Centrosomal protein of 85 kDa — Q6P2H3 (reviewed: Q6P2H3)
Alternative names: Coiled-coil domain-containing protein 21
All UniProt accessions (2): Q6P2H3, H7BZW2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a regulator of centriole duplication through a direct interaction with STIL, a key factor involved in the early steps of centriole formation. The CEP85-STIL protein complex acts as a modulator of PLK4-driven cytoskeletal rearrangements and directional cell motility. Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity.
Subunit / interactions. Homodimer. Interacts with STIL (via N-terminus); this interaction is essential for robust PLK4 activation and efficient centriole assembly and for PLK4-dependent cell migration. Interacts with PLK4; required for CEP85 to be able to drive centriole duplication and cell migration.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle pole. Nucleus. Nucleolus. Centriole. Cell cortex.
Similarity. Belongs to the CEP85 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P2H3-1 | 1 | yes |
| Q6P2H3-2 | 2 | |
| Q6P2H3-3 | 3 | |
| Q6P2H3-4 | 4 |
RefSeq proteins (3): NP_001268446, NP_001306873, NP_073615 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR040210 | Cep85/Cep85L | Family |
| IPR058190 | CC4_CEP85 | Domain |
Pfam: PF24555
UniProt features (30 total): region of interest 6, compositionally biased region 4, modified residue 4, sequence variant 4, splice variant 3, sequence conflict 3, mutagenesis site 2, coiled-coil region 2, chain 1, helix 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5OI7 | X-RAY DIFFRACTION | 1.67 |
| 5OID | X-RAY DIFFRACTION | 4.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P2H3-F1 | 68.09 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 17, 126, 141, 623
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 640 | strongly reduced interaction with stil. strongly reduced interaction with stil; when associated with a-644. does not aff |
| 644 | strongly reduced interaction with stil. strongly reduced interaction with stil; when associated with a-640. does not aff |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 190 (showing top):
HORIUCHI_WTAP_TARGETS_DN, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, CMYB_01, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOCC_MICROTUBULE_ORGANIZING_CENTER, PATIL_LIVER_CANCER, MARTINEZ_RB1_TARGETS_UP, GOBP_CENTRIOLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION
GO Biological Process (6): negative regulation of protein kinase activity (GO:0006469), chromosome segregation (GO:0007059), centriole replication (GO:0007099), cell migration (GO:0016477), regulation of mitotic centrosome separation (GO:0046602), centriole assembly (GO:0098534)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (11): pericentriolar material (GO:0000242), spindle pole (GO:0000922), nucleolus (GO:0005730), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cell cortex (GO:0005938), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular membraneless organelle | 3 |
| cytoplasm | 3 |
| cell cycle process | 2 |
| intracellular membrane-bounded organelle | 2 |
| microtubule organizing center | 2 |
| negative regulation of protein phosphorylation | 1 |
| protein kinase activity | 1 |
| negative regulation of kinase activity | 1 |
| regulation of protein kinase activity | 1 |
| centrosome duplication | 1 |
| centriole assembly | 1 |
| cell motility | 1 |
| mitotic centrosome separation | 1 |
| regulation of cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| membraneless organelle assembly | 1 |
| protein binding | 1 |
| binding | 1 |
| centrosome | 1 |
| spindle | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
890 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP85 | STIL | Q15468 | 806 |
| CEP85 | CEP192 | Q8TEP8 | 585 |
| CEP85 | RTTN | Q86VV8 | 564 |
| CEP85 | CCDC77 | Q9BR77 | 549 |
| CEP85 | SASS6 | Q6UVJ0 | 548 |
| CEP85 | PLK4 | O00444 | 539 |
| CEP85 | CCDC150 | Q8NCX0 | 534 |
| CEP85 | HAUS1 | Q96CS2 | 528 |
| CEP85 | CEP131 | Q9UPN4 | 505 |
| CEP85 | NEMP1 | O14524 | 490 |
| CEP85 | REEP4 | Q9H6H4 | 480 |
| CEP85 | CCDC34 | Q96HJ3 | 471 |
| CEP85 | PDCD7 | Q8N8D1 | 470 |
| CEP85 | GSTCD | Q8NEC7 | 459 |
| CEP85 | PCNT | O95613 | 450 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAV1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.570 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| KCMF1 | IDH2 | psi-mi:“MI:0914”(association) | 0.530 |
| TERF1 | CEP85 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CEP85 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| CEP85 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| CEP85 | MFHAS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| MIF | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP16 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| NTAQ1 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CRYAA | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP85 | SOX5 | psi-mi:“MI:0914”(association) | 0.350 |
| C9orf163 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| KCMF1 | MDK | psi-mi:“MI:0914”(association) | 0.350 |
| KCMF1 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
| UBR4 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| OFD1 | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.270 |
| ODF2 | DDX3X | psi-mi:“MI:2364”(proximity) | 0.270 |
| CEP128 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FBF1 | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.270 |
| RPGRIP1 | IPO5 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SSX2IP | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.270 |
| NINL | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| OFD1 | PSMD14 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CEP152 | CNOT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (231): CEP85 (Affinity Capture-RNA), CEP85 (Affinity Capture-RNA), CEP85 (Biochemical Activity), CEP85 (Affinity Capture-MS), CEP85 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX5 (Affinity Capture-MS), CEP44 (Affinity Capture-MS), CEP85 (Synthetic Growth Defect), CEP85 (Proximity Label-MS), CEP85 (Proximity Label-MS), CEP85 (Proximity Label-MS), CEP85 (Proximity Label-MS), CEP85 (Proximity Label-MS), CEP85 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, B8A5S6, E7F5E1, H2MTR9, O08970, O35711, O60296, P27628, P53564, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q2TLZ3, Q3UIJ9, Q4V7D3, Q5BIX7, Q5R923, Q5SXA9, Q5SZL2, Q5U2Y9, Q5U4W1, Q5ZLT3, Q6AW69, Q6DIS8, Q6NRW2, Q6NXJ0, Q6P2H3, Q6P402, Q6PCQ0, Q6PD31, Q7TQE6, Q7TQG1, Q80ST9, Q86W92, Q8BMK0, Q8C8U0, Q8CFC9
Diamond homologs: A0A1W2P884, Q5SZL2, Q6P2H3, Q8BMK0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLK1 | “up-regulates activity” | CEP85 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 9 | 29.1× | 2e-09 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 9 | 29.1× | 2e-09 |
| AURKA Activation by TPX2 | 9 | 28.0× | 2e-09 |
| Anchoring of the basal body to the plasma membrane | 11 | 25.4× | 1e-10 |
| Recruitment of mitotic centrosome proteins and complexes | 9 | 25.0× | 5e-09 |
| Regulation of PLK1 Activity at G2/M Transition | 9 | 23.3× | 7e-09 |
| Recruitment of NuMA to mitotic centrosomes | 9 | 21.4× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 6 | 61.1× | 3e-07 |
| smoothened signaling pathway | 5 | 12.6× | 5e-03 |
| cilium assembly | 7 | 7.2× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 103 |
| Likely benign | 6 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3044 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:26244160:TTTCA:T | acceptor_loss | 1.0000 |
| 1:26244161:TTCA:T | acceptor_loss | 1.0000 |
| 1:26244162:TCAG:T | acceptor_loss | 1.0000 |
| 1:26244163:CAGGT:C | acceptor_loss | 1.0000 |
| 1:26244164:A:AG | acceptor_gain | 1.0000 |
| 1:26244165:G:GG | acceptor_gain | 1.0000 |
| 1:26244314:GGAGG:G | donor_gain | 1.0000 |
| 1:26244315:GAGG:G | donor_gain | 1.0000 |
| 1:26244315:GAGGG:G | donor_gain | 1.0000 |
| 1:26244317:GG:G | donor_gain | 1.0000 |
| 1:26244318:GG:G | donor_gain | 1.0000 |
| 1:26244319:G:GG | donor_gain | 1.0000 |
| 1:26244320:T:G | donor_loss | 1.0000 |
| 1:26257688:G:GG | donor_gain | 1.0000 |
| 1:26257731:G:GG | donor_gain | 1.0000 |
| 1:26258140:CAGGC:C | acceptor_loss | 1.0000 |
| 1:26258141:A:AG | acceptor_gain | 1.0000 |
| 1:26258142:G:GA | acceptor_loss | 1.0000 |
| 1:26258142:G:GG | acceptor_gain | 1.0000 |
| 1:26258142:GGCA:G | acceptor_gain | 1.0000 |
| 1:26258257:ACAGG:A | donor_loss | 1.0000 |
| 1:26258259:AGGT:A | donor_loss | 1.0000 |
| 1:26258261:G:GG | donor_gain | 1.0000 |
| 1:26258262:T:A | donor_loss | 1.0000 |
| 1:26259651:A:AG | acceptor_gain | 1.0000 |
| 1:26259652:G:GG | acceptor_gain | 1.0000 |
| 1:26259779:G:GT | donor_gain | 1.0000 |
| 1:26259794:G:GT | donor_gain | 1.0000 |
| 1:26259801:GG:G | donor_gain | 1.0000 |
| 1:26259802:GG:G | donor_gain | 1.0000 |
AlphaMissense
5000 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:26268565:G:C | R475P | 1.000 |
| 1:26268583:G:C | R481P | 1.000 |
| 1:26268589:T:C | L483P | 0.999 |
| 1:26268598:T:C | L486P | 0.999 |
| 1:26276683:T:C | L684P | 0.999 |
| 1:26258166:T:C | L354P | 0.998 |
| 1:26268492:C:A | R451S | 0.998 |
| 1:26268493:G:C | R451P | 0.998 |
| 1:26268591:G:C | A484P | 0.998 |
| 1:26268564:C:A | R475S | 0.997 |
| 1:26268577:T:C | L479S | 0.997 |
| 1:26268585:T:G | Y482D | 0.997 |
| 1:26258145:A:C | Q347P | 0.996 |
| 1:26268581:G:C | E480D | 0.996 |
| 1:26268581:G:T | E480D | 0.996 |
| 1:26275060:G:C | A631P | 0.996 |
| 1:26276746:T:C | L705P | 0.996 |
| 1:26277211:T:C | L736P | 0.996 |
| 1:26277236:G:C | R744S | 0.996 |
| 1:26277236:G:T | R744S | 0.996 |
| 1:26268518:A:C | K459N | 0.995 |
| 1:26268518:A:T | K459N | 0.995 |
| 1:26268585:T:C | Y482H | 0.995 |
| 1:26268586:A:C | Y482S | 0.995 |
| 1:26276536:T:C | L635P | 0.995 |
| 1:26277259:C:A | A752D | 0.995 |
| 1:26255237:C:A | A92D | 0.994 |
| 1:26268586:A:G | Y482C | 0.994 |
| 1:26276572:T:C | L647P | 0.994 |
| 1:26276746:T:A | L705H | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000028397 (1:26263419 G>T), RS1000048576 (1:26274528 T>C,G), RS1000074565 (1:26274872 C>A,G,T), RS1000188614 (1:26238874 T>G), RS1000271208 (1:26258445 AG>A), RS1000314227 (1:26262696 C>T), RS1000478838 (1:26256406 C>A), RS1000516629 (1:26233197 T>G), RS1000592514 (1:26268326 T>C), RS1000660554 (1:26268957 C>G,T), RS1000732938 (1:26274853 G>A,C), RS1000844643 (1:26250065 T>C), RS1000922794 (1:26270023 T>G), RS1000929424 (1:26251972 C>T), RS1000962761 (1:26268759 G>T)
Disease associations
OMIM: gene MIM:618898 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004608_2 | Granulocyte percentage of myeloid white cells | 2.000000e-11 |
| GCST010043_81 | Asthma | 3.000000e-08 |
| GCST90002382_65 | Eosinophil percentage of white cells | 2.000000e-12 |
| GCST90002400_18 | Plateletcrit | 3.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| propionaldehyde | increases methylation | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| nonanal | increases methylation | 1 |
| n-hexanal | increases methylation | 1 |
| butyraldehyde | increases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| caprylic aldehyde | increases methylation | 1 |
| pentanal | increases methylation | 1 |
| heptanal | increases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| ICG 001 | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.