FOXO6
gene geneOn this page
Summary
FOXO6 (forkhead box O6, HGNC:24814) is a protein-coding gene on chromosome 1p34.2, encoding Forkhead box protein O6 (A8MYZ6). Transcriptional activator.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of dendritic spine development and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin and cytoplasm. Predicted to be active in nucleus.
Source: NCBI Gene 100132074 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 1 total
- MANE Select transcript:
NM_001291281
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24814 |
| Approved symbol | FOXO6 |
| Name | forkhead box O6 |
| Location | 1p34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000204060 |
| Ensembl biotype | protein_coding |
| OMIM | 611457 |
| Entrez | 100132074 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000372591, ENST00000641094, ENST00000686812
RefSeq mRNA: 1 — MANE Select: NM_001291281
NM_001291281
Canonical transcript exons
ENST00000641094 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003812603 | 41361931 | 41362344 |
| ENSE00003814052 | 41381616 | 41382200 |
| ENSE00003814105 | 41382202 | 41382681 |
Expression profiles
Bgee: expression breadth ubiquitous, 124 present calls, max score 89.78.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4381 / max 93.3204, expressed in 745 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2424 | 2.4381 | 745 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 89.78 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.25 | gold quality |
| pituitary gland | UBERON:0000007 | 79.88 | gold quality |
| adenohypophysis | UBERON:0002196 | 79.26 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 73.93 | gold quality |
| right ovary | UBERON:0002118 | 72.39 | gold quality |
| left ovary | UBERON:0002119 | 72.24 | gold quality |
| ovary | UBERON:0000992 | 71.93 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 70.66 | gold quality |
| body of uterus | UBERON:0009853 | 70.50 | gold quality |
| placenta | UBERON:0001987 | 70.30 | gold quality |
| Ammon’s horn | UBERON:0001954 | 69.81 | gold quality |
| thyroid gland | UBERON:0002046 | 69.67 | gold quality |
| left uterine tube | UBERON:0001303 | 69.61 | gold quality |
| nucleus accumbens | UBERON:0001882 | 69.53 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 69.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 69.26 | gold quality |
| hypothalamus | UBERON:0001898 | 68.73 | gold quality |
| putamen | UBERON:0001874 | 68.54 | gold quality |
| caudate nucleus | UBERON:0001873 | 67.76 | gold quality |
| ventricular zone | UBERON:0003053 | 67.61 | gold quality |
| ascending aorta | UBERON:0001496 | 67.44 | gold quality |
| thoracic aorta | UBERON:0001515 | 67.19 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 66.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 66.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 66.43 | gold quality |
| myometrium | UBERON:0001296 | 66.29 | gold quality |
| muscle of leg | UBERON:0001383 | 66.14 | gold quality |
| popliteal artery | UBERON:0002250 | 66.09 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.16 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
5 targets.
| Target | Regulation |
|---|---|
| FBXO32 | Activation |
| IDH1 | Unknown |
| MYC | Activation |
| PPARGC1A | Unknown |
| TRIM63 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0849.1 | FOXO6 | FOX |
JASPAR matrix evidence (PMIDs): PMID:10880363
Upstream regulators (CollecTRI, top): NFIA, NFIB, NFIX
miRNA regulators (miRDB)
40 targeting FOXO6, 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-5583-3P | 99.06 | 65.68 | 1018 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-6871-5P | 98.90 | 66.67 | 671 |
Literature-anchored findings (GeneRIF, showing 20)
- cloning and characterization; structural and functional properties related to gene regulation (PMID:12857750)
- gene study of FOXO6, reveals no association with human longevity in Germans (PMID:21388494)
- Studies indictet that the mammalian FoxO family consists of FoxO1, 3, 4 and 6 and are regulated by by AKT and 14-3-3 proteins. (PMID:21708191)
- investigation of role of FoxO6 in liver: Data suggest that a FoxO6-dependent pathway in hepatocytes orchestrates insulin regulation of gluconeogenesis. (PMID:21940782)
- Studies indicate that FoxO6 is produced in the liver of both rodents and humans. (PMID:23324123)
- FOXO6 induces C-myc expression by associating to HNF4 and mediating histone acetylation, and the dissociation of HDAC3 from the promoter of the C-myc gene (PMID:23714368)
- In conclusion, the results of the present study indicated that the FOXO6/USP7 molecular network has an important role in the regulation of lung cancer development. (PMID:25695151)
- Lacking the FOXO6 risk allele was associated with an increase in negative schizophrenia symptoms and surface area reduction in the right orbitofrontal gyrus - an area previously associated with negative symptoms - suggesting that presence of the FOXO6 risk allele confers resistance against negative symptoms and associated neuroanatomical changes in individuals with first-episode schizophrenia. (PMID:28234206)
- this study established a correlation between FOXO6 expression and gastric cancer prognosis. FOXO6 could be a promising predictor for prognosis in gastric cancer. (PMID:28404958)
- The results indicated that FOXO6 knockdown inhibited colorectal cancer cell proliferation, migration, invasion, and glycolysis via the PI3K/Akt/mTOR pathway. (PMID:30321450)
- High FOXO6 expression is associated with gastric cancer. (PMID:30453063)
- suppression of FOXO6 protects ARPE-19 cells from HG-induced oxidative stress and apoptosis, which is in part mediated by the activation of Akt/Nrf2 pathway. (PMID:30548643)
- downstream effector in 5-HT1D-induced hepatocellular carcinoma progression (PMID:30561038)
- FoxO6 regulated nuclear factor erythroid 2-related factor (Nrf2) expression via c-Myc after 3% isoflurane preconditioning and OGD exposure. Thus, isoflurane preconditioning prevented OGD-induced injury in LO2 cells by modulating FoxO6, c-Myc, and Nrf2 signaling. (PMID:31894125)
- Interaction between CHOP and FoxO6 promotes hepatic lipid accumulation. (PMID:32639626)
- Downregulation of FOXO6 alleviates hypoxia-induced apoptosis and oxidative stress in cardiomyocytes by enhancing Nrf2 activation via upregulation of SIRT6. (PMID:33123950)
- Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk. (PMID:34197655)
- LncRNA HOXC-AS1 promotes nasopharyngeal carcinoma (NPC) progression by sponging miR-4651 and subsequently upregulating FOXO6. (PMID:34507637)
- Upregulation of FoxO6 in nucleus pulposus cells promotes DNA damage repair via activation of RAD51. (PMID:34533813)
- FOXO6 transcription inhibition of CTRP3 promotes OGD/R-triggered cardiac microvascular endothelial barrier disruption via SIRT1/Nrf2 signalling. (PMID:36688407)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | foxo3a | ENSDARG00000023058 |
| danio_rerio | foxo3b | ENSDARG00000042904 |
| mus_musculus | Foxo6 | ENSMUSG00000052135 |
| rattus_norvegicus | Foxo6 | ENSRNOG00000032639 |
Paralogs (41): FOXP3 (ENSG00000049768), FOXC1 (ENSG00000054598), FOXJ2 (ENSG00000065970), FOXF1 (ENSG00000103241), FOXN1 (ENSG00000109101), FOXM1 (ENSG00000111206), FOXP1 (ENSG00000114861), FOXO3 (ENSG00000118689), FOXA2 (ENSG00000125798), FOXA1 (ENSG00000129514), FOXJ1 (ENSG00000129654), FOXK2 (ENSG00000141568), FOXO1 (ENSG00000150907), FOXH1 (ENSG00000160973), FOXQ1 (ENSG00000164379), FOXK1 (ENSG00000164916), FOXD4 (ENSG00000170122), FOXA3 (ENSG00000170608), FOXB1 (ENSG00000171956), FOXR1 (ENSG00000176302), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), FOXD2 (ENSG00000186564), FOXI2 (ENSG00000186766), FOXE3 (ENSG00000186790), FOXD3 (ENSG00000187140), FOXD4L3 (ENSG00000187559), FOXR2 (ENSG00000189299), FOXJ3 (ENSG00000198815), FOXB2 (ENSG00000204612), FOXD4L5 (ENSG00000204779), FOXI3 (ENSG00000214336), FOXL3 (ENSG00000248767), FOXD1 (ENSG00000251493)
Protein
Protein identifiers
Forkhead box protein O6 — A8MYZ6 (reviewed: A8MYZ6)
All UniProt accessions (2): A0A8I5QKU9, A8MYZ6
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Phosphorylation of Ser-184 is be important in regulating the transacriptional activity.
RefSeq proteins (1): NP_001278210* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001766 | Fork_head_dom | Domain |
| IPR030456 | TF_fork_head_CS_2 | Conserved_site |
| IPR032067 | FOXO-TAD | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR047410 | FH_FOXO6 | Domain |
Pfam: PF00250, PF16676
UniProt features (10 total): region of interest 4, compositionally biased region 3, chain 1, DNA-binding region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A8MYZ6-F1 | 58.32 | 0.16 |
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 (1): 184
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-198693 | AKT phosphorylates targets in the nucleus |
| R-HSA-5674400 | Constitutive Signaling by AKT1 E17K in Cancer |
| R-HSA-9614399 | Regulation of localization of FOXO transcription factors |
| R-HSA-9615017 | FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
MSigDB gene sets: 62 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_MEMORY, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT, chr1p34, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT, SENESE_HDAC3_TARGETS_DN
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), memory (GO:0007613), positive regulation of dendritic spine development (GO:0060999), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), beta-catenin binding (GO:0008013), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| FOXO-mediated transcription | 2 |
| PIP3 activates AKT signaling | 1 |
| PI3K/AKT Signaling in Cancer | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| learning or memory | 1 |
| positive regulation of developmental process | 1 |
| dendritic spine development | 1 |
| regulation of dendritic spine development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1030 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FOXO6 | AKT1 | P31749 | 629 |
| FOXO6 | IGF1 | P01343 | 566 |
| FOXO6 | SIRT1 | Q96EB6 | 557 |
| FOXO6 | SGK1 | O00141 | 518 |
| FOXO6 | BCL2L11 | O43521 | 505 |
| FOXO6 | INS | P01308 | 497 |
| FOXO6 | PTEN | P60484 | 423 |
| FOXO6 | F5H3C5 | F5H3C5 | 421 |
| FOXO6 | SOD2 | P04179 | 421 |
| FOXO6 | G6PC1 | P35575 | 415 |
| FOXO6 | MTOR | P42345 | 400 |
| FOXO6 | SIRT6 | Q8N6T7 | 391 |
| FOXO6 | CDKN1B | P46527 | 383 |
| FOXO6 | UBE2QL1 | A1L167 | 383 |
| FOXO6 | SESN3 | P58005 | 369 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| FOXO6 | HNF4A | psi-mi:“MI:0915”(physical association) | 0.400 |
| HNF4A | FOXO6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FOXO6 | psi-mi:“MI:0914”(association) | 0.350 | |
| FOXO3 | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXO6 | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A0A8I6AGW3, A2A9A2, A6NMB9, A8MYZ6, E9PZZ1, J3QK54, O02755, O02756, O35392, O35767, O60548, O70220, P05554, P17676, P21272, P28033, P35713, P42582, P49715, P49716, P52952, P53566, P58012, Q12952, Q13461, Q14526, Q60843, Q61345, Q63244, Q63250, Q6BEB4, Q6VFT5, Q6VFT6, Q6ZQN5, Q70KY4, Q8IU81, Q8MIP2, Q8NDY6, Q8R2I0, Q98937
Diamond homologs: A0A2Z4LIS9, A3RK74, A3RK75, A4L7N3, A8MYZ6, B3LYS5, B3P0K6, B4G4S8, B4HF64, B4JSC2, B4KBF6, B4MB78, B4NFR1, B4PTD3, E1BPQ1, G3V7R4, O16850, O43524, P0CG31, P23512, P32182, P32183, P32315, P33205, P33206, P35582, P35583, P35584, P55317, P55318, P84961, P98177, Q07342, Q10924, Q12778, Q28EM1, Q298W7, Q3Y598, Q4VUF1, Q63248
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT1 | down-regulates | FOXO6 | phosphorylation |
| CSNK1A1 | down-regulates | FOXO6 | phosphorylation |
| DYRK1A | down-regulates | FOXO6 | phosphorylation |
| FOXO6 | “up-regulates quantity by expression” | FBXO32 | “transcriptional regulation” |
| FOXO6 | “up-regulates quantity by expression” | TRIM63 | “transcriptional regulation” |
| FOXO6 | “up-regulates quantity by expression” | IDH1 | “transcriptional regulation” |
| AKT | down-regulates | FOXO6 | phosphorylation |
| NFIA | “down-regulates quantity” | FOXO6 | “transcriptional regulation” |
| NFIB | “down-regulates quantity” | FOXO6 | “transcriptional regulation” |
| NFIX | “down-regulates quantity” | FOXO6 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
458 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:41362309:GA:G | donor_gain | 1.0000 |
| 1:41362341:G:GT | donor_gain | 1.0000 |
| 1:41362342:A:T | donor_gain | 1.0000 |
| 1:41362290:T:G | donor_gain | 0.9900 |
| 1:41362342:AAG:A | donor_loss | 0.9900 |
| 1:41362343:AGGT:A | donor_loss | 0.9900 |
| 1:41362344:GG:G | donor_loss | 0.9900 |
| 1:41362345:G:A | donor_loss | 0.9900 |
| 1:41362346:T:A | donor_loss | 0.9900 |
| 1:41381607:T:TA | acceptor_gain | 0.9900 |
| 1:41381608:G:A | acceptor_gain | 0.9900 |
| 1:41381610:CCACA:C | acceptor_loss | 0.9900 |
| 1:41381611:CACA:C | acceptor_loss | 0.9900 |
| 1:41381612:ACAGA:A | acceptor_loss | 0.9900 |
| 1:41381613:C:G | acceptor_gain | 0.9900 |
| 1:41381613:CAGAA:C | acceptor_loss | 0.9900 |
| 1:41381614:A:AG | acceptor_gain | 0.9900 |
| 1:41381614:A:AT | acceptor_loss | 0.9900 |
| 1:41381615:G:GA | acceptor_gain | 0.9900 |
| 1:41381615:G:T | acceptor_loss | 0.9900 |
| 1:41381615:GA:G | acceptor_gain | 0.9900 |
| 1:41381615:GAA:G | acceptor_gain | 0.9900 |
| 1:41381615:GAAC:G | acceptor_gain | 0.9900 |
| 1:41381615:GAACT:G | acceptor_gain | 0.9900 |
| 1:41381601:T:TA | acceptor_gain | 0.9800 |
| 1:41362317:C:T | donor_gain | 0.9400 |
| 1:41374920:ACTC:A | acceptor_gain | 0.9400 |
| 1:41362329:C:G | donor_gain | 0.9300 |
| 1:41381612:A:AG | acceptor_gain | 0.9300 |
| 1:41380591:C:T | donor_gain | 0.9000 |
AlphaMissense
3138 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:41362009:T:A | W27R | 1.000 |
| 1:41362009:T:C | W27R | 1.000 |
| 1:41362186:A:G | N86D | 1.000 |
| 1:41362187:A:T | N86I | 1.000 |
| 1:41362188:C:A | N86K | 1.000 |
| 1:41362188:C:G | N86K | 1.000 |
| 1:41362192:T:A | W88R | 1.000 |
| 1:41362192:T:C | W88R | 1.000 |
| 1:41362193:G:C | W88S | 1.000 |
| 1:41362193:G:T | W88L | 1.000 |
| 1:41362194:G:C | W88C | 1.000 |
| 1:41362194:G:T | W88C | 1.000 |
| 1:41362195:G:A | G89R | 1.000 |
| 1:41362195:G:C | G89R | 1.000 |
| 1:41362195:G:T | G89W | 1.000 |
| 1:41362196:G:A | G89E | 1.000 |
| 1:41362196:G:C | G89A | 1.000 |
| 1:41362196:G:T | G89V | 1.000 |
| 1:41362202:T:C | L91P | 1.000 |
| 1:41362205:C:A | S92Y | 1.000 |
| 1:41362205:C:T | S92F | 1.000 |
| 1:41362207:T:A | Y93N | 1.000 |
| 1:41362207:T:C | Y93H | 1.000 |
| 1:41362207:T:G | Y93D | 1.000 |
| 1:41362208:A:G | Y93C | 1.000 |
| 1:41362210:G:C | A94P | 1.000 |
| 1:41362211:C:A | A94D | 1.000 |
| 1:41362217:T:A | L96H | 1.000 |
| 1:41362217:T:C | L96P | 1.000 |
| 1:41362219:A:T | I97F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000024681 (1:41383494 C>G,T), RS1000042416 (1:41383764 A>G), RS1000070231 (1:41370773 C>T), RS1000176731 (1:41366056 C>A,G,T), RS1000228298 (1:41376524 C>G), RS1000251067 (1:41375738 T>C), RS1000304842 (1:41383353 G>A), RS1000356942 (1:41383610 G>A), RS1000411505 (1:41360171 G>A), RS1000448566 (1:41378972 C>A,T), RS1000661008 (1:41363587 A>G,T), RS1000782241 (1:41369264 G>A), RS1000793651 (1:41369528 G>C), RS1001448723 (1:41364263 G>A), RS1001580706 (1:41366483 C>T)
Disease associations
OMIM: gene MIM:611457 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_104 | Night sleep phenotypes | 9.000000e-07 |
| GCST004364_29 | Intelligence | 4.000000e-09 |
| GCST004364_9 | Intelligence | 1.000000e-08 |
| GCST005316_276 | Intelligence (MTAG) | 1.000000e-09 |
| GCST005316_441 | Intelligence (MTAG) | 2.000000e-11 |
| GCST005316_445 | Intelligence (MTAG) | 1.000000e-11 |
| GCST005316_446 | Intelligence (MTAG) | 7.000000e-10 |
| GCST006269_709 | General cognitive ability | 2.000000e-09 |
| GCST006269_816 | General cognitive ability | 9.000000e-09 |
| GCST006628_26 | Systolic blood pressure | 9.000000e-11 |
| GCST007044_2 | Extremely high intelligence | 4.000000e-08 |
| GCST007327_183 | Smoking status (ever vs never smokers) | 4.000000e-12 |
| GCST008162_66 | Hip circumference | 7.000000e-07 |
| GCST008595_4 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 1.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0006335 | systolic blood pressure |
| EFO:0004318 | smoking behavior |
| EFO:0004784 | self reported educational attainment |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Particulate Matter | 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.