FGFR1OP2
gene geneOn this page
Also known as DKFZp564O1863
Summary
FGFR1OP2 (FGFR1 oncogene partner 2, HGNC:23098) is a protein-coding gene on chromosome 12p11.23, encoding FGFR1 oncogene partner 2 (Q9NVK5). May be involved in wound healing pathway. It is a selective cancer dependency (DepMap: 14.8% of cell lines).
Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol.
Source: NCBI Gene 26127 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 34 total
- Cancer dependency (DepMap): dependent in 14.8% of screened cell lines
- MANE Select transcript:
NM_015633
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23098 |
| Approved symbol | FGFR1OP2 |
| Name | FGFR1 oncogene partner 2 |
| Location | 12p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp564O1863 |
| Ensembl gene | ENSG00000111790 |
| Ensembl biotype | protein_coding |
| OMIM | 608858 |
| Entrez | 26127 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 16 protein_coding, 2 retained_intron
ENST00000229395, ENST00000327214, ENST00000395941, ENST00000538172, ENST00000544111, ENST00000546072, ENST00000887799, ENST00000887800, ENST00000887801, ENST00000887802, ENST00000887803, ENST00000887804, ENST00000915792, ENST00000972030, ENST00000972031, ENST00000972032, ENST00000972033, ENST00000972034
RefSeq mRNA: 3 — MANE Select: NM_015633
NM_001171887, NM_001171888, NM_015633
CCDS: CCDS53766, CCDS53767, CCDS8709
Canonical transcript exons
ENST00000229395 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000732709 | 26960515 | 26960628 |
| ENSE00000936587 | 26957601 | 26957743 |
| ENSE00001189198 | 26964596 | 26966648 |
| ENSE00001346961 | 26963342 | 26963455 |
| ENSE00001346990 | 26938470 | 26938710 |
| ENSE00003510128 | 26954145 | 26954293 |
| ENSE00003521909 | 26956543 | 26956660 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 96.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.2315 / max 566.8922, expressed in 1815 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124822 | 18.4727 | 1795 |
| 124823 | 15.6481 | 1775 |
| 124821 | 2.0986 | 902 |
| 124825 | 0.6830 | 341 |
| 124824 | 0.3143 | 130 |
| 124826 | 0.0148 | 7 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.62 | gold quality |
| monocyte | CL:0000576 | 96.00 | gold quality |
| left ovary | UBERON:0002119 | 95.99 | gold quality |
| leukocyte | CL:0000738 | 95.74 | gold quality |
| right ovary | UBERON:0002118 | 95.41 | gold quality |
| secondary oocyte | CL:0000655 | 95.33 | gold quality |
| corpus callosum | UBERON:0002336 | 95.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.11 | gold quality |
| lymph node | UBERON:0000029 | 94.91 | gold quality |
| ovary | UBERON:0000992 | 94.69 | gold quality |
| oocyte | CL:0000023 | 94.62 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.62 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.44 | gold quality |
| spinal cord | UBERON:0002240 | 94.30 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.10 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.01 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.96 | gold quality |
| bone marrow | UBERON:0002371 | 93.94 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.91 | gold quality |
| tibial nerve | UBERON:0001323 | 93.90 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.90 | gold quality |
| tendon | UBERON:0000043 | 93.76 | gold quality |
| gall bladder | UBERON:0002110 | 93.71 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.68 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.67 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 93.66 | gold quality |
| thymus | UBERON:0002370 | 93.59 | gold quality |
| adrenal gland | UBERON:0002369 | 93.56 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.45 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9221 | yes | 12.22 |
| E-MTAB-11011 | no | 225.00 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
154 targeting FGFR1OP2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient. (PMID:15034873)
- FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure. (PMID:19959814)
- patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible (PMID:21283824)
- The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population. (PMID:22880093)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fgfr1op2 | ENSDARG00000009657 |
| mus_musculus | Fgfr1op2 | ENSMUSG00000040242 |
| rattus_norvegicus | Fgfr1op2 | ENSRNOG00000001811 |
| drosophila_melanogaster | Fgop2 | FBGN0031871 |
| caenorhabditis_elegans | WBGENE00007579 |
Paralogs (1): SIKE1 (ENSG00000052723)
Protein
Protein identifiers
FGFR1 oncogene partner 2 — Q9NVK5 (reviewed: Q9NVK5)
All UniProt accessions (2): Q9NVK5, F5GX47
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in wound healing pathway.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in bone marrow, spleen and thymus.
Disease relevance. A chromosomal aberration involving FGFR1OP2 may be a cause of stem cell myeloproliferative disorder (MPD). Insertion ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be responsible for the transforming activity.
Similarity. Belongs to the SIKE family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVK5-1 | 1 | yes |
| Q9NVK5-2 | 2 | |
| Q9NVK5-3 | 3 |
RefSeq proteins (3): NP_001165358, NP_001165359, NP_056448* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008555 | SIKE | Family |
Pfam: PF05769
UniProt features (12 total): splice variant 3, sequence conflict 2, coiled-coil region 2, chain 1, region of interest 1, compositionally biased region 1, site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVK5-F1 | 78.59 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 132–133 (breakpoint for translocation to form fgfr1op2-fgfr1)
Post-translational modifications (1): 141
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1839117 | Signaling by cytosolic FGFR1 fusion mutants |
| R-HSA-5655302 | Signaling by FGFR1 in disease |
MSigDB gene sets: 167 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, FOXD3_01, chr12p11, GOBP_WOUND_HEALING, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, ATAACCT_MIR154, NRF2_01, ZHANG_BREAST_CANCER_PROGENITORS_UP
GO Biological Process (2): response to wounding (GO:0009611), wound healing (GO:0042060)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| FGFR1 mutant receptor activation | 1 |
| Signaling by FGFR in disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to stress | 1 |
| response to wounding | 1 |
| tissue regeneration | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
674 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGFR1OP2 | ZMYM2 | Q9UBW7 | 870 |
| FGFR1OP2 | SLMAP | Q14BN4 | 842 |
| FGFR1OP2 | FGFR1 | P11362 | 818 |
| FGFR1OP2 | MYO18A | Q92614 | 791 |
| FGFR1OP2 | CEP43 | O95684 | 781 |
| FGFR1OP2 | CTTNBP2NL | Q9P2B4 | 677 |
| FGFR1OP2 | ZNF112 | Q9UJU3 | 641 |
| FGFR1OP2 | STRIP1 | Q5VSL9 | 589 |
| FGFR1OP2 | TRAF3IP3 | Q9Y228 | 572 |
| FGFR1OP2 | MOB4 | Q9Y3A3 | 563 |
| FGFR1OP2 | SIKE1 | Q9BRV8 | 554 |
| FGFR1OP2 | TRIM24 | O15164 | 531 |
| FGFR1OP2 | TM7SF3 | Q9NS93 | 521 |
| FGFR1OP2 | STRIP2 | Q9ULQ0 | 514 |
| FGFR1OP2 | STRN4 | Q9NRL3 | 483 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDCD10 | STK25 | psi-mi:“MI:0914”(association) | 0.980 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STRIP1 | PPP2CB | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
| STRIP1 | STK25 | psi-mi:“MI:0914”(association) | 0.840 |
| SIKE1 | SLMAP | psi-mi:“MI:0914”(association) | 0.770 |
| MOB4 | STK25 | psi-mi:“MI:0914”(association) | 0.730 |
| SIKE1 | STRN | psi-mi:“MI:0914”(association) | 0.730 |
| PSMC5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| SLMAP | STRN | psi-mi:“MI:0914”(association) | 0.710 |
| SLMAP | STRN | psi-mi:“MI:2364”(proximity) | 0.710 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| STK4 | STRN | psi-mi:“MI:2364”(proximity) | 0.610 |
| HAUS1 | FGFR1OP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Strn | PPP2R1A | psi-mi:“MI:2364”(proximity) | 0.540 |
BioGRID (171): HAUS1 (Two-hybrid), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS), CAV1 (Affinity Capture-MS), STOM (Affinity Capture-MS), GANC (Affinity Capture-MS), NDUFS1 (Affinity Capture-MS), PHB (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), STRN (Affinity Capture-MS)
ESM2 similar proteins: A1YB07, A4IGC3, A5PJI6, A8NJZ7, B1PRL5, B8AE37, O08970, O35867, O46480, O94876, P57077, P58500, Q0P4J3, Q0V9C8, Q29EP6, Q2KI75, Q2KJD6, Q3E784, Q3SZV2, Q4R4S6, Q5BKX8, Q5ZMC9, Q66J96, Q66JL0, Q69ZZ6, Q6AYB8, Q6DBR9, Q6DDT0, Q6DFB7, Q6GNW0, Q6IP02, Q6K678, Q6P402, Q6SXP0, Q6TA25, Q78PB6, Q8BHS8, Q8CCX5, Q8N6V9, Q8R2X8
Diamond homologs: O02197, Q0VCF3, Q5FWT9, Q5I033, Q5R561, Q5R8J5, Q5ZKJ4, Q6DF11, Q6GP65, Q6TA25, Q7T338, Q8AVR2, Q9BRV8, Q9CPR7, Q9CRA9, Q9NVK5, Q9VM65
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 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 |
|---|---|---|---|
| Degradation of beta-catenin by the destruction complex | 7 | 40.4× | 1e-07 |
| Separation of Sister Chromatids | 6 | 12.2× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 106.8× | 7e-11 |
| protein autophosphorylation | 6 | 18.9× | 7e-05 |
| protein phosphorylation | 7 | 10.3× | 3e-04 |
| intracellular signal transduction | 10 | 8.3× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1088 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:26938599:G:GT | donor_gain | 1.0000 |
| 12:26938709:GA:G | donor_gain | 1.0000 |
| 12:26938711:G:GG | donor_gain | 1.0000 |
| 12:26954143:A:AG | acceptor_gain | 1.0000 |
| 12:26954144:G:GG | acceptor_gain | 1.0000 |
| 12:26954144:GAT:G | acceptor_gain | 1.0000 |
| 12:26954144:GATAT:G | acceptor_gain | 1.0000 |
| 12:26954273:C:T | donor_gain | 1.0000 |
| 12:26954292:AGG:A | donor_loss | 1.0000 |
| 12:26954293:GGTTT:G | donor_loss | 1.0000 |
| 12:26954294:G:A | donor_loss | 1.0000 |
| 12:26954295:T:A | donor_loss | 1.0000 |
| 12:26956538:A:AG | acceptor_gain | 1.0000 |
| 12:26956539:TTA:T | acceptor_loss | 1.0000 |
| 12:26956541:A:AG | acceptor_gain | 1.0000 |
| 12:26956541:A:AT | acceptor_loss | 1.0000 |
| 12:26956542:G:GT | acceptor_gain | 1.0000 |
| 12:26956542:GT:G | acceptor_gain | 1.0000 |
| 12:26956542:GTA:G | acceptor_gain | 1.0000 |
| 12:26956542:GTAT:G | acceptor_gain | 1.0000 |
| 12:26956656:CAAAG:C | donor_gain | 1.0000 |
| 12:26956657:AAAG:A | donor_gain | 1.0000 |
| 12:26956658:AAG:A | donor_gain | 1.0000 |
| 12:26956658:AAGGT:A | donor_loss | 1.0000 |
| 12:26956659:AG:A | donor_gain | 1.0000 |
| 12:26956659:AGG:A | donor_loss | 1.0000 |
| 12:26956660:GG:G | donor_gain | 1.0000 |
| 12:26956661:G:GA | donor_loss | 1.0000 |
| 12:26956661:G:GG | donor_gain | 1.0000 |
| 12:26957599:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
1688 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:26957643:T:C | L99P | 1.000 |
| 12:26954192:G:C | A12P | 0.999 |
| 12:26954193:C:A | A12D | 0.999 |
| 12:26954202:T:C | L15P | 0.999 |
| 12:26954244:T:C | L29P | 0.999 |
| 12:26957604:T:C | L86S | 0.999 |
| 12:26957616:T:C | L90P | 0.999 |
| 12:26957646:T:A | I100K | 0.999 |
| 12:26957650:G:A | M101I | 0.999 |
| 12:26957650:G:C | M101I | 0.999 |
| 12:26957650:G:T | M101I | 0.999 |
| 12:26957661:G:C | R105P | 0.999 |
| 12:26963451:T:C | L207P | 0.999 |
| 12:26964612:T:C | L214S | 0.999 |
| 12:26954214:T:C | L19S | 0.998 |
| 12:26954234:G:C | A26P | 0.998 |
| 12:26956604:T:A | V66D | 0.998 |
| 12:26956643:T:C | L79S | 0.998 |
| 12:26956646:A:C | Q80P | 0.998 |
| 12:26956654:A:G | N83D | 0.998 |
| 12:26957612:T:C | S89P | 0.998 |
| 12:26957624:C:G | H93D | 0.998 |
| 12:26957625:A:C | H93P | 0.998 |
| 12:26957633:G:C | A96P | 0.998 |
| 12:26957634:C:A | A96D | 0.998 |
| 12:26957646:T:G | I100R | 0.998 |
| 12:26957657:T:G | Y104D | 0.998 |
| 12:26963396:G:C | A189P | 0.998 |
| 12:26964624:T:C | L218P | 0.998 |
| 12:26954231:G:C | A25P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000159073 (12:26950336 C>A), RS1000167621 (12:26943192 T>C), RS1000199733 (12:26943463 A>G), RS1000307069 (12:26956747 T>C), RS1000371226 (12:26944987 A>G), RS1000461919 (12:26950477 C>G,T), RS1000539427 (12:26961330 A>G,T), RS1000613441 (12:26955559 A>G), RS1000678752 (12:26956966 T>C), RS1000719707 (12:26938296 C>G,T), RS1000897513 (12:26953360 T>C), RS1001253842 (12:26950312 T>C), RS1001418001 (12:26938426 T>C), RS1001501567 (12:26948548 C>G), RS1001538690 (12:26962656 C>T)
Disease associations
OMIM: gene MIM:608858 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002379_99 | Basophil count | 7.000000e-12 |
| GCST90002380_105 | Basophil percentage of white cells | 1.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression, affects expression, decreases expression | 4 |
| bisphenol A | increases methylation, decreases reaction, increases abundance, decreases expression, increases expression | 3 |
| Acetaminophen | affects expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| ginger extract | decreases reaction, increases abundance, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Copper | affects binding, increases expression | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0374 | KG-1 | Cancer cell line | Male |
| CVCL_1824 | KG-1a | Cancer cell line | Male |
| CVCL_5301 | KMT-2 | Cancer cell line | Male |
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.