FRAT1
gene geneOn this page
Summary
FRAT1 (FRAT regulator of Wnt signaling pathway 1, HGNC:3944) is a protein-coding gene on chromosome 10q24.1, encoding Proto-oncogene FRAT1 (Q92837). Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3.
The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis.
Source: NCBI Gene 10023 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_005479
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3944 |
| Approved symbol | FRAT1 |
| Name | FRAT regulator of Wnt signaling pathway 1 |
| Location | 10q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165879 |
| Ensembl biotype | protein_coding |
| OMIM | 602503 |
| Entrez | 10023 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000371021, ENST00000490980
RefSeq mRNA: 1 — MANE Select: NM_005479
NM_005479
CCDS: CCDS7455
Canonical transcript exons
ENST00000371021 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001454138 | 97319271 | 97321915 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 92.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6294 / max 208.2473, expressed in 1235 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106424 | 2.6626 | 853 |
| 106425 | 1.9668 | 705 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 92.49 | gold quality |
| monocyte | CL:0000576 | 91.48 | gold quality |
| mononuclear cell | CL:0000842 | 91.18 | gold quality |
| leukocyte | CL:0000738 | 91.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.66 | gold quality |
| granulocyte | CL:0000094 | 87.10 | gold quality |
| pancreatic ductal cell | CL:0002079 | 85.97 | gold quality |
| secondary oocyte | CL:0000655 | 84.50 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.84 | gold quality |
| oocyte | CL:0000023 | 82.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.27 | gold quality |
| bone marrow | UBERON:0002371 | 79.25 | gold quality |
| spleen | UBERON:0002106 | 79.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.61 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.36 | gold quality |
| bone marrow cell | CL:0002092 | 77.23 | gold quality |
| apex of heart | UBERON:0002098 | 75.67 | gold quality |
| right testis | UBERON:0004534 | 75.54 | gold quality |
| left testis | UBERON:0004533 | 75.22 | gold quality |
| liver | UBERON:0002107 | 74.11 | gold quality |
| endothelial cell | CL:0000115 | 73.50 | silver quality |
| testis | UBERON:0000473 | 72.96 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 72.88 | gold quality |
| stromal cell of endometrium | CL:0002255 | 72.70 | gold quality |
| vermiform appendix | UBERON:0001154 | 71.96 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 71.58 | gold quality |
| duodenum | UBERON:0002114 | 71.48 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 71.37 | gold quality |
| right lung | UBERON:0002167 | 71.33 | gold quality |
| body of stomach | UBERON:0001161 | 70.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting FRAT1, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
Literature-anchored findings (GeneRIF, showing 18)
- CKI epsilon-dependent phosphorylation of Dvl enhances the formation of a complex of Dvl-1 with Frat-1 and this complex leads to the activation of Wnt-3a-induced accumulation of beta-catenin (PMID:12556519)
- findings support that Wnt/beta-catenin signalling may be aberrantly activated through FRAT1 overexpression in ovarian serous adenocarcinomas (PMID:16479254)
- PKA phosphorylates FRAT1 in vitro as well as in intact cells and may play a role in regulating the inhibitory activity of FRAT1 toward GSK-3. (PMID:16982607)
- Aberrant activation of beta-catenin/TCF pathway in esophageal cancer appears to be due to upstream events such as FRAT1 overexpression, and c-Myc may be an important element in oncogenesis of human ESCC induced by FRAT1. (PMID:18498136)
- Elevated expression of FRAT1 was associated with astrocytomas. (PMID:20041315)
- Our results suggest that FRAT1 may be an important factor in the tumorigenesis and progression of gliomas, and could be used as a potential molecular marker for pathological diagnosis and a target for biological therapy. (PMID:20096670)
- Down-regulation of Frat1 expression reduced invasive ability in A549 cell line, further supporting idea that Frat1 may play crucial role in carcinogenesis, tumor invasiveness and dissemination in human lung cancer. (PMID:21818639)
- The overexpression of Frat1 and beta-catenin was correlated with tumor differentiation, TNM stage, lymph node metastasis, and poor prognosis of NSCLC. (PMID:22528942)
- These results highlight the potential role of FRAT1 in tumorigenesis and progression of glioblastoma. (PMID:23613813)
- The mechanism of inhibiting beta-catenin phosphorylation involves the NDRG1-mediated upregulation of the GSK3beta-binding protein FRAT1. (PMID:24829151)
- Positive ROR2 and FRAT1 expression is associated with the progression and poor prognosis of chondrosarcoma. (PMID:25387569)
- FRAT1 overexpression correlates with pathologic grade, proliferation, invasion and angiogenesis in brain gliomas. (PMID:25922553)
- FRAT1 and ABCG2 overexpression is associated with carcinogenesis, progression, and poor prognosis in patients with Pancreatic ductal adenocarcinoma. (PMID:26178481)
- The results of the present study suggest that nuclear FRAT1 activates the Wnt/beta-catenin signaling pathway and confers an increase in prostate cancer cell growth. (PMID:27599661)
- These data suggest a potential role for targeting FRAT1 in the prevention of hypoxia-induced HCC cancer progression and metastasis mediated by epithelial-to-mesenchymal transition (PMID:27666874)
- LncRNA CCAT1 promotes prostate cancer cells proliferation, migration, and invasion through regulation of miR-490-3p/FRAT1 axis. (PMID:34319909)
- FRAT1 promotes the angiogenic properties of human glioblastoma cells via VEGFA. (PMID:35059733)
- The miR-3648/FRAT1-FRAT2/c-Myc negative feedback loop modulates the metastasis and invasion of gastric cancer cells. (PMID:36153370)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Frat1 | ENSMUSG00000067199 |
| mus_musculus | Peg12 | ENSMUSG00000070526 |
| rattus_norvegicus | Peg12 | ENSRNOG00000024429 |
| rattus_norvegicus | Frat1 | ENSRNOG00000067076 |
Paralogs (1): FRAT2 (ENSG00000181274)
Protein
Protein identifiers
Proto-oncogene FRAT1 — Q92837 (reviewed: Q92837)
Alternative names: Frequently rearranged in advanced T-cell lymphomas 1
All UniProt accessions (1): Q92837
UniProt curated annotations — full annotation on UniProt →
Function. Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis.
Subunit / interactions. Binds DVL1. Binds GSK-3 and prevent GSK-3-dependent phosphorylation.
Subcellular location. Cytoplasm.
Post-translational modifications. Phosphorylated.
Similarity. Belongs to the GSK-3-binding protein family.
RefSeq proteins (1): NP_005470* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008014 | GSK3-bd | Family |
Pfam: PF05350
UniProt features (14 total): region of interest 5, modified residue 3, sequence conflict 2, helix 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4AFJ | X-RAY DIFFRACTION | 1.98 |
| 3ZRK | X-RAY DIFFRACTION | 2.37 |
| 3ZRL | X-RAY DIFFRACTION | 2.48 |
| 3ZRM | X-RAY DIFFRACTION | 2.49 |
| 1GNG | X-RAY DIFFRACTION | 2.6 |
| 5OY4 | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92837-F1 | 60.81 | 0.12 |
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 (3): 88, 249, 252
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-196299 | Beta-catenin phosphorylation cascade |
| R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane |
MSigDB gene sets: 237 (showing top):
BENPORATH_ES_WITH_H3K27ME3, YANG_BREAST_CANCER_ESR1_LASER_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NUCLEAR_TRANSPORT, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GNF2_HCK, TCCAGAT_MIR5165P
GO Biological Process (4): regulation of protein export from nucleus (GO:0046825), canonical Wnt signaling pathway (GO:0060070), positive regulation of canonical Wnt signaling pathway (GO:0090263), Wnt signaling pathway (GO:0016055)
GO Molecular Function (2): molecular function inhibitor activity (GO:0140678), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Degradation of beta-catenin by the destruction complex | 1 |
| TCF dependent signaling in response to WNT | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein export from nucleus | 1 |
| regulation of intracellular protein transport | 1 |
| regulation of nucleocytoplasmic transport | 1 |
| Wnt signaling pathway | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| cell surface receptor signaling pathway | 1 |
| molecular function regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FRAT1 | AXIN1 | O15169 | 984 |
| FRAT1 | GSK3B | P49841 | 979 |
| FRAT1 | DVL1 | O14640 | 954 |
| FRAT1 | RHOA | P06749 | 769 |
| FRAT1 | CTNNB1 | P35222 | 697 |
| FRAT1 | MAP3K4 | Q9Y6R4 | 695 |
| FRAT1 | LRP6 | O75581 | 525 |
| FRAT1 | GSK3A | P49840 | 477 |
| FRAT1 | GYS1 | P13807 | 471 |
| FRAT1 | EPM2A | O95278 | 436 |
| FRAT1 | WNT1 | P04628 | 433 |
| FRAT1 | NHLRC1 | Q6VVB1 | 430 |
| FRAT1 | LRP5 | O75197 | 426 |
| FRAT1 | MAPK6 | Q16659 | 425 |
| FRAT1 | CD244 | Q9BZW8 | 410 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AXIN1 | GSK3B | psi-mi:“MI:0217”(phosphorylation reaction) | 0.980 |
| GSK3B | AXIN1 | psi-mi:“MI:0914”(association) | 0.980 |
| FRAT1 | GSK3B | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| GSK3A | AXIN1 | psi-mi:“MI:0914”(association) | 0.800 |
| FRAT1 | GSK3A | psi-mi:“MI:0915”(physical association) | 0.740 |
| Ctnnb1 | GSK3B | psi-mi:“MI:0217”(phosphorylation reaction) | 0.620 |
| AXIN1 | GSK3B | psi-mi:“MI:0914”(association) | 0.520 |
| AXIN1 | psi-mi:“MI:0914”(association) | 0.520 | |
| FRAT1 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| FRAT1 | GSK3B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| EIF2B5 | GSK3B | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| GSK3B | SEC16A | psi-mi:“MI:0914”(association) | 0.420 |
| GRN | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KRT18 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLSCR1 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PSMA3 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | LTBP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KCNK5 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | LAMC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | LMAN2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | TDRD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RABEP2 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GPRASP2 | FRAT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FRAT1 | PIAS1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (24): FRAT1 (Affinity Capture-Western), FRAT1 (Affinity Capture-Luminescence), GSK3A (Affinity Capture-MS), GSK3B (Affinity Capture-MS), KRAS (Affinity Capture-MS), PIAS1 (Affinity Capture-MS), FRAT1 (Affinity Capture-MS), DVL1 (Affinity Capture-Western), FRAT1 (Affinity Capture-MS), FRAT1 (Protein-peptide), GPRASP2 (Two-hybrid), LAMC3 (Two-hybrid), KRT18 (Two-hybrid), GRN (Two-hybrid), PLSCR1 (Two-hybrid)
ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944
Diamond homologs: O75474, O93343, P70339, Q8K025, Q92837
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKACA | down-regulates | FRAT1 | phosphorylation |
| FRAT1 | up-regulates | GSK3B/Axin/APC | binding |
| GSK3B | “down-regulates activity” | FRAT1 | phosphorylation |
| PKA | “down-regulates activity” | FRAT1 | phosphorylation |
| FRAT1 | up-regulates | GSK3B | binding |
| DVL3 | up-regulates | FRAT1 | binding |
| FRAT1 | “up-regulates activity” | EIF2B5 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
120 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:97320132:T:G | donor_gain | 0.8800 |
| 10:97319481:G:GT | donor_gain | 0.8100 |
| 10:97319475:G:GT | donor_gain | 0.7900 |
| 10:97321024:TAAAG:T | acceptor_gain | 0.7700 |
| 10:97320692:T:G | donor_gain | 0.7300 |
| 10:97321683:A:AG | acceptor_gain | 0.7100 |
| 10:97321684:G:GG | acceptor_gain | 0.7100 |
| 10:97319540:GCA:G | donor_gain | 0.6700 |
| 10:97319493:G:GT | donor_gain | 0.6500 |
| 10:97319508:G:GT | donor_gain | 0.6500 |
| 10:97319514:G:GT | donor_gain | 0.6400 |
| 10:97320137:TGCA:T | donor_gain | 0.6400 |
| 10:97319542:A:AG | donor_gain | 0.6300 |
| 10:97319543:G:GG | donor_gain | 0.6300 |
| 10:97319438:GCCC:G | donor_gain | 0.6000 |
| 10:97320096:G:GT | donor_gain | 0.5900 |
| 10:97321025:AAAG:A | acceptor_gain | 0.5900 |
| 10:97319517:G:GT | donor_gain | 0.5700 |
| 10:97320422:G:GT | donor_gain | 0.5600 |
| 10:97320681:G:GT | donor_gain | 0.5600 |
| 10:97320436:C:T | donor_gain | 0.5500 |
| 10:97321684:GTCA:G | acceptor_gain | 0.5500 |
| 10:97319472:G:GT | donor_gain | 0.5400 |
| 10:97320394:G:GT | donor_gain | 0.5400 |
| 10:97319572:T:TA | donor_gain | 0.5300 |
| 10:97319573:G:GA | donor_gain | 0.5300 |
| 10:97321685:T:G | acceptor_gain | 0.5300 |
| 10:97319613:G:GT | donor_gain | 0.5200 |
| 10:97319545:C:A | donor_gain | 0.5100 |
| 10:97320335:C:T | donor_gain | 0.4900 |
AlphaMissense
1721 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:97320095:G:C | K214N | 0.996 |
| 10:97320095:G:T | K214N | 0.996 |
| 10:97320082:G:T | G210V | 0.995 |
| 10:97320091:T:A | I213N | 0.995 |
| 10:97320091:T:C | I213T | 0.995 |
| 10:97320091:T:G | I213S | 0.993 |
| 10:97320082:G:A | G210E | 0.991 |
| 10:97320099:G:C | A216P | 0.991 |
| 10:97320088:T:C | L212P | 0.987 |
| 10:97320070:T:C | L206P | 0.986 |
| 10:97320088:T:A | L212H | 0.984 |
| 10:97320094:A:T | K214M | 0.984 |
| 10:97320081:G:A | G210R | 0.982 |
| 10:97320081:G:C | G210R | 0.982 |
| 10:97319593:T:G | I47S | 0.980 |
| 10:97320086:C:A | N211K | 0.980 |
| 10:97320086:C:G | N211K | 0.980 |
| 10:97320100:C:A | A216D | 0.979 |
| 10:97319593:T:A | I47N | 0.978 |
| 10:97320096:G:A | E215K | 0.972 |
| 10:97319581:T:C | L43P | 0.969 |
| 10:97320093:A:G | K214E | 0.967 |
| 10:97320097:A:T | E215V | 0.967 |
| 10:97320110:G:C | R219S | 0.967 |
| 10:97320110:G:T | R219S | 0.967 |
| 10:97320085:A:T | N211I | 0.966 |
| 10:97320079:C:T | S209F | 0.964 |
| 10:97320097:A:G | E215G | 0.961 |
| 10:97320094:A:C | K214T | 0.960 |
| 10:97319593:T:C | I47T | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000145657 (10:97321957 T>C), RS1000157063 (10:97321646 A>G), RS1001935435 (10:97320796 C>A), RS1002458847 (10:97317679 C>T), RS1002617535 (10:97317936 T>C), RS1003040469 (10:97322189 T>G), RS1003331162 (10:97321837 T>C), RS1003491854 (10:97319061 C>T), RS1004233060 (10:97319216 G>A,C), RS1004578398 (10:97319055 C>A), RS1005238635 (10:97319091 G>A), RS1006343498 (10:97321464 C>G,T), RS1006374489 (10:97321760 T>G), RS1006496072 (10:97317707 C>A,G), RS1007054172 (10:97321530 G>T)
Disease associations
OMIM: gene MIM:602503 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002388_572 | Lymphocyte count | 2.000000e-12 |
| GCST90002407_310 | White blood cell count | 2.000000e-77 |
| GCST90013405_22 | Liver enzyme levels (alanine transaminase) | 3.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases expression | 3 |
| Estradiol | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| afimoxifene | decreases reaction, decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| pentanal | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| PKF115-584 | increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Hexachlorocyclohexane | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Environmental Pollutants | affects expression | 1 |
| Estrogens | decreases expression, decreases reaction | 1 |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9F2 | Ubigene HEK293 FRAT1 KO | Transformed cell line | Female |
| CVCL_E0DA | Ubigene HeLa FRAT1 KO | Cancer cell line | Female |
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.