CUX1
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Also known as CDPCDP1CUXCUTCloxCDP/CutCDP/CuxCux/CDPCASPGOLIM6
Summary
CUX1 (cut like homeobox 1, HGNC:2557) is a protein-coding gene on chromosome 7q22.1, encoding Homeobox protein cut-like 1 (P39880). Transcription factor involved in the control of neuronal differentiation in the brain.
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 1523 — RefSeq curated summary.
At a glance
- Gene–disease (curated): global developmental delay with or without impaired intellectual development (Definitive, GenCC) — +1 more curated relationship
- GWAS associations: 30
- Clinical variants (ClinVar): 627 total — 23 pathogenic, 29 likely-pathogenic
- Phenotypes (HPO): 27
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 7 cancer types
- Transcription factor: yes — 123 downstream targets (CollecTRI)
- MANE Select transcript:
NM_181552
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2557 |
| Approved symbol | CUX1 |
| Name | cut like homeobox 1 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 |
| Ensembl gene | ENSG00000257923 |
| Ensembl biotype | protein_coding |
| OMIM | 116896 |
| Entrez | 1523 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 17 protein_coding, 4 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000292535, ENST00000292538, ENST00000360264, ENST00000393824, ENST00000425244, ENST00000437600, ENST00000465461, ENST00000485792, ENST00000487284, ENST00000497815, ENST00000546411, ENST00000547394, ENST00000549414, ENST00000550008, ENST00000556210, ENST00000558469, ENST00000558836, ENST00000560541, ENST00000606749, ENST00000607092, ENST00000622516, ENST00000645010, ENST00000646649, ENST00000935679, ENST00000964683
RefSeq mRNA: 7 — MANE Select: NM_181552
NM_001202543, NM_001202544, NM_001202545, NM_001202546, NM_001913, NM_181500, NM_181552
CCDS: CCDS47672, CCDS56498, CCDS56499, CCDS56500, CCDS5720, CCDS5721, CCDS59071
Canonical transcript exons
ENST00000292535 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001332236 | 101817626 | 101817669 |
| ENSE00001878777 | 102248412 | 102258233 |
| ENSE00002332406 | 102234052 | 102234240 |
| ENSE00002342371 | 102200071 | 102200172 |
| ENSE00002345935 | 102227367 | 102227669 |
| ENSE00002374551 | 102205114 | 102205170 |
| ENSE00002376432 | 102239320 | 102239584 |
| ENSE00002380308 | 102196634 | 102197305 |
| ENSE00002405775 | 102198802 | 102198867 |
| ENSE00002411234 | 102204391 | 102204556 |
| ENSE00002420069 | 102201360 | 102202204 |
| ENSE00003696300 | 102070339 | 102070417 |
| ENSE00003696859 | 102178469 | 102178657 |
| ENSE00003697509 | 102158560 | 102158608 |
| ENSE00003698477 | 102193842 | 102193890 |
| ENSE00003698759 | 102189813 | 102189871 |
| ENSE00003698853 | 102104336 | 102104459 |
| ENSE00003698992 | 101916115 | 101916225 |
| ENSE00003699121 | 102115207 | 102115273 |
| ENSE00003700196 | 102028098 | 102028145 |
| ENSE00003700524 | 102170446 | 102170550 |
| ENSE00003701391 | 102097364 | 102097501 |
| ENSE00003701555 | 102111698 | 102111774 |
| ENSE00003701853 | 102195507 | 102195603 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 98.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.2136 / max 1417.3582, expressed in 1822 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80209 | 64.3762 | 1821 |
| 80208 | 4.5145 | 1522 |
| 80229 | 0.4964 | 227 |
| 80230 | 0.2835 | 126 |
| 80210 | 0.2719 | 107 |
| 80231 | 0.1744 | 91 |
| 80232 | 0.0387 | 10 |
| 80233 | 0.0205 | 7 |
| 80212 | 0.0097 | 3 |
| 80211 | 0.0096 | 4 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.72 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.78 | gold quality |
| oocyte | CL:0000023 | 96.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.03 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.91 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.73 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.65 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.64 | gold quality |
| right coronary artery | UBERON:0001625 | 95.63 | gold quality |
| sural nerve | UBERON:0015488 | 95.56 | gold quality |
| myometrium | UBERON:0001296 | 95.52 | gold quality |
| body of uterus | UBERON:0009853 | 95.43 | gold quality |
| cerebellum | UBERON:0002037 | 95.33 | gold quality |
| apex of heart | UBERON:0002098 | 95.32 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.00 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.84 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.76 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.75 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.74 | gold quality |
| ventricular zone | UBERON:0003053 | 94.68 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.67 | gold quality |
| visceral pleura | UBERON:0002401 | 94.66 | gold quality |
| ascending aorta | UBERON:0001496 | 94.65 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.58 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.56 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.54 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.49 | gold quality |
| heart | UBERON:0000948 | 94.45 | gold quality |
| coronary artery | UBERON:0001621 | 94.26 | gold quality |
| left coronary artery | UBERON:0001626 | 94.24 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.29 |
| E-MTAB-7249 | no | 3768.40 |
| E-GEOD-100618 | no | 408.83 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
123 targets.
| Target | Regulation |
|---|---|
| ABL1 | |
| ADAM2 | |
| AGTR1 | |
| AKT1 | |
| ARHGAP32 | Repression |
| ARHGDIB | Activation |
| ATP11C | |
| BCL2 | |
| BGLAP | |
| CA9 | |
| CAV1 | |
| CCN5 | Activation |
| CCNA2 | Activation |
| CCND2 | |
| CCNE2 | Activation |
| CD38 | |
| CD40 | |
| CD44 | |
| CD8A | |
| CDH1 | Repression |
| CDH13 | |
| CDH2 | Activation |
| CDK2 | |
| CDKN1A | Unknown |
| CDKN1B | Unknown |
| CEBPE | Unknown |
| CEL | |
| CFTR | Unknown |
| CHD4 | |
| CNTN2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0754.1 | CUX1 | HD-CUT |
| MA0754.2 | CUX1 | HD-CUT |
| MA0754.3 | CUX1 | HD-CUT |
JASPAR matrix evidence (PMIDs): PMID:7799919
Upstream regulators (CollecTRI, top): E2F1, E2F2, E2F3, E2F4
miRNA regulators (miRDB)
30 targeting CUX1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| 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-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-6819-5P | 97.96 | 66.59 | 1071 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-6737-5P | 97.75 | 66.54 | 1044 |
| HSA-MIR-6812-5P | 97.56 | 65.39 | 1059 |
| HSA-MIR-6069 | 97.45 | 65.88 | 357 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6835-5P | 95.81 | 64.27 | 500 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
Literature-anchored findings (GeneRIF, showing 40)
- Transfection of keratinocytes with plasmid DNA leads to the loss of detectable DNA-binding activity of CCAAT displacement protein. (PMID:11953010)
- Analysis of flanking sequences of IgH and Ig kappa V region genes show extensive heterogeneity in frequency and location of CDP binding sites and capability of CDP to bind to the nuclear matrix. (PMID:12193717)
- Data report the characterization of a mammalian coiled-coil protein, CASP, a Golgi protein that shares with giantin a conserved histidine in its transmembrane domain. (PMID:12429822)
- Lack of LF expression in the acute promyelocytic leukemia cell line NB4 is associated with the persistent binding of the silencer CCAAT displacement protein (CDP/cut) to the LF promoter in these cells. (PMID:12522000)
- correlation between binding of CDP/Cux to the DNA pol alpha promoter and the stimulation of gene expression (PMID:12665598)
- CDP, in conjunction with one or more viral proteins, binds to the packaging sequences of Adenovirus type 5 to initiate the encapsidation process (PMID:12743282)
- our data suggested that somatic mutations in CDP gene were rare in unselected uterine leiomyomas (PMID:12766905)
- interaction of G9a with a sequence-specific transcription factor that regulates gene repression through CDP/cut. (PMID:15269344)
- CUTL1 plays a central role in coordinating a gene expression program associated with cell motility and tumor progression. (PMID:15950902)
- Binding of E2 at the binding sites play an important role in overcoming inhibition of E1 complex formation caused by the binding of CDP to the origin of replication. (PMID:16529788)
- PKA-induced phosphorylation results in decreased DNA binding affinity of CUTL1 and diminished CUTL1-mediated cell cycle progression and cell motility. (PMID:16574653)
- Single Nucleotide Polymorphism in CUTL1 is associated with myeloid neoplasias (PMID:17140660)
- CUTL1 transcriptionally up-regulates WNT5A on RNA, protein and promoter level. (PMID:17227781)
- Src plays a crucial role in CUTL1-induced tumor cell migration (PMID:17369846)
- CDP inhibits cytokine-induced NF-kappaB-regulated chemokine transcription in melanoma cells (PMID:17496784)
- CUX1 C-terminal proteolytic processing by a caspase enables transcriptional activation in proliferating cells (PMID:17681953)
- Data show that in renal cell carcinoma, the Cut-like homeodomain protein is involved in FIH-1 transcriptional regulation and is controlled by a specific signaling event involving protein kinase C zeta. (PMID:17682059)
- The data strongly suggest that CDP acts as a major suppressor for Human papillomavirus type 16 P670 transcription by binding to the promoter region in the undifferentiated cells (PMID:17957475)
- Genome-wide location analysis revealed that targets common to p110 CUX1 and E2F1 included many genes involved in cell cycle, DNA replication, and DNA repair. (PMID:18347061)
- This result revealed a negative feedback loop whereby CUX1 shuts down the expression of the protease that cleaves it. (PMID:18403643)
- CUX1 showed evidence of association with the HCMV major immediate early regulatory region and inhibited the capacity of the virus to express ie1 and ie2 transcripts, suggesting that this cellular factor regulates MIE gene expression following virus entry. (PMID:18614194)
- study reports that mitotic complex genes Ect2, RacGAP, and MKLP1 are coordinately induced in S phase in proliferating T lymphocytes as well as in epithelial cells, depending upon activity of the CUX1 and E2F1 transcription factors (PMID:19015243)
- Activation of non-canonical Wnt signaling pathway by EBV in epithelial cells suggests a novel mechanism of epithelial mesenchymal transition via CUX1 signaling. (PMID:19361498)
- role of p110 CUX1 in cell motility involves its functions in both activation and repression of transcription (PMID:19635798)
- data indicate that CUX1 represents an important survival factor downstream of PI3K/Akt, which orchestrates a transcriptional programme mediating resistance to apoptosis in pancreatic cancer. (PMID:20442202)
- GRIA3 plays a role as a mediator of tumor progression in pancreatic cancer downstream CUX1. (PMID:20689760)
- findings show that CUTL1 expression is gradually silenced at the posttranscriptional level during liver development; overexpression and knockdown studies that miR-122 repressed CUTL1 protein expression in HCC cell lines (PMID:20842632)
- Elevated levels of cux1 are associated with inflammatory bowel disease. (PMID:20848487)
- Transcriptional targets of CUX1 involved in DNA replication and bipolar mitosis defined a gene expression signature that, across 12 breast cancer gene expression datasets, was associated with poor clinical outcome. (PMID:21245318)
- we identified a novel CUX1-FGFR1 fusion oncogene in a patient with the 8p11 myeloproliferative syndrome and demonstrated its transforming potential in the Ba/F3 cell line. (PMID:21330321)
- modifications of CUX1 expression lead to aberrant expression of type I collagen, which may provide a molecular basis for fibrogenesis (PMID:21471005)
- screening for mutations in CUX1 using 15 secondary acute myeloid leukemia cases with preceding myeloproliferative neoplasms or loss-of-heterozygosity on chromosome 7q (collaborative study in several countries) (PMID:21674579)
- The data demonstrates that the autism spectrum disorder-associated A-C intronic haplotype of the ENGRAILED2 gene is a transcriptional activator, and both CUX1 and NFIB mediate this activity. (PMID:22180456)
- cux1 is associated with cell functions and human disease. (PMID:22306263)
- we find repression of apoptosis regulators by Cux1 in human cancer cells. (PMID:22438831)
- Our results provide the first evidence that polymorphisms of the CUX1 gene may be associated with response to antidepressant treatment in Japanese patients with MDD. (PMID:22584459)
- Authors found that both chromosomal inversions target the cut-like homeobox 1 (CUX1) gene on chromosomal band 7q22.1 in a way which is functionally equivalent to the more frequently observed del(7q) cases. (PMID:22965931)
- Cutl1 played transcriptional level mediated by signal transduction, translational level mediated by miR122, posttranslational level such as phosphorylation, de-phosphorylation, acetylation and proteolytic cleavage. (PMID:23085261)
- Data indicate CUX1 as a conserved, haploinsufficient tumor suppressor frequently deleted in myeloid neoplasms. (PMID:23212519)
- overexpression of active CUTL1 significantly resulted in increased cancer tissue response to chemotherapy and therefore inhibited growth, whereas knockdown of CUTL1 conferred resistance to chemotherapy. (PMID:23255599)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cux1a | ENSDARG00000078459 |
| mus_musculus | Cux1 | ENSMUSG00000029705 |
| rattus_norvegicus | Cux1 | ENSRNOG00000001424 |
| drosophila_melanogaster | ct | FBGN0004198 |
| caenorhabditis_elegans | WBGENE00000464 |
Paralogs (1): CUX2 (ENSG00000111249)
Protein
Protein identifiers
Homeobox protein cut-like 1 — P39880 (reviewed: P39880, Q13948)
Alternative names: CCAAT displacement protein, CDP/Cux p200, Homeobox protein cux-1
All UniProt accessions (5): P39880, Q13948, A0A2R8Y852, A0A2R8Y8D0, A0A2R8YDI1
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5’ and 3’) of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator. Plays a role in cell cycle progression, in particular at the G1/S transition. As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa. While CUX1 only transiently binds to DNA and carries the CCAAT-displacement activity, CDP/Cux p110 makes a stable interaction with DNA and stimulates expression of genes such as POLA1.
Subunit / interactions. Interacts with BANP. Interacts with SATB1 (via DNA-binding domains); the interaction inhibits the attachment of both proteins to DNA.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylated by PKA. As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa by CTSL. Cell cycle-dependent processing of CUX1 serves to generate a CDP/Cux p110 with distinct DNA binding and transcriptional properties.
Disease relevance. Neurodevelopmental disorder with developmental delay and with or without motor or speech delay (NEDDMS) [MIM:618330] An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Asn-1290 may participate in regulating DNA-binding activity by promoting homo- and heterodimerization.
Similarity. Belongs to the CUT homeobox family.
Isoforms (11)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P39880-1 | 1 | yes |
| P39880-2 | 2 | |
| P39880-3 | 3 | |
| P39880-4 | 5 | |
| P39880-5 | 6 | |
| P39880-6 | 7 | |
| P39880-9 | 11 | |
| Q13948-1 | 4, CASP | |
| Q13948-2 | 8 | |
| Q13948-9 | 9 | |
| Q13948-10 | 10 |
RefSeq proteins (7): NP_001189472, NP_001189473, NP_001189474, NP_001189475, NP_001904, NP_852477, NP_853530* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR003350 | CUT_dom | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR010982 | Lambda_DNA-bd_dom_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR057476 | Cux_N | Domain |
| IPR012955 | CASP_C | Domain |
Pfam: PF00046, PF02376, PF08172, PF25398
UniProt features (85 total): compositionally biased region 16, sequence conflict 12, modified residue 11, splice variant 10, region of interest 9, sequence variant 5, DNA-binding region 4, cross-link 4, chain 3, coiled-coil region 3, site 2, topological domain 2, mutagenesis site 2, transmembrane region 1, helix 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8WQF | ELECTRON MICROSCOPY | 3.27 |
| 8WQE | ELECTRON MICROSCOPY | 3.38 |
| 8WQI | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P39880-F1 | 62.84 | 0.29 |
| AF-Q13948-F1 | 83.04 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
P39880 (canonical)
Catalytic / active sites (2): 643–644 (cleavage; by ctsl); 747–755 (cleavage; by ctsl)
Post-translational modifications (14): 763, 909, 1059, 1069, 1270, 1337, 1455, 1486, 1496, 785, 811, 842, 1284, 540
Q13948
Post-translational modifications (1): 586
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 624 | retained in the endoplasmic reticulum. |
| 629 | no effect on subcellular location. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-1839117 | Signaling by cytosolic FGFR1 fusion mutants |
| R-HSA-5655302 | Signaling by FGFR1 in disease |
| R-HSA-6811438 | Intra-Golgi traffic |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
MSigDB gene sets: 451 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, TTTGTAG_MIR520D, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, NIKOLSKY_OVERCONNECTED_IN_BREAST_CANCER, MORF_RAD21, GOBP_NEUROGENESIS, MEF2_02, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, MARTINEZ_RB1_TARGETS_UP
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of dendrite morphogenesis (GO:0050775), intra-Golgi vesicle-mediated transport (GO:0006891), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)
GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), Golgi membrane (GO:0000139), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| FGFR1 mutant receptor activation | 1 |
| Signaling by FGFR in disease | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of cell morphogenesis | 1 |
| positive regulation of cell projection organization | 1 |
| dendrite morphogenesis | 1 |
| regulation of dendrite morphogenesis | 1 |
| positive regulation of neurogenesis | 1 |
| Golgi vesicle transport | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
1966 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CUX1 | TBR1 | Q16650 | 849 |
| CUX1 | EWSR1 | Q01844 | 832 |
| CUX1 | BCL11B | Q9C0K0 | 819 |
| CUX1 | EOMES | O95936 | 781 |
| CUX1 | GOLGA5 | Q8TBA6 | 778 |
| CUX1 | SPP2 | Q13103 | 772 |
| CUX1 | CCNA2 | P20248 | 770 |
| CUX1 | CCNA1 | P78396 | 763 |
| CUX1 | SATB2 | Q9UPW6 | 753 |
| CUX1 | BANP | Q8N9N5 | 741 |
| CUX1 | FOXP2 | O15409 | 656 |
| CUX1 | PAX6 | P26367 | 646 |
| CUX1 | RB1 | P06400 | 644 |
| CUX1 | EMX1 | Q04741 | 615 |
| CUX1 | GOLGB1 | Q14789 | 610 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF146 | TNKS | psi-mi:“MI:0914”(association) | 0.790 |
| RB1 | CUX1 | psi-mi:“MI:0403”(colocalization) | 0.610 |
| RB1 | CUX1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| CUX1 | RB1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| CUX1 | RB1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA10 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| NUP62 | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFB8 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP1 | FZD7 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB30 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| B4GAT1 | ADCY6 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRNA4 | FZD6 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | TPST1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPRC5B | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| FMR1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| CUX1 | KRT8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FOXE1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXG1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ2 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (266): CUX1 (Reconstituted Complex), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Co-fractionation), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS)
ESM2 similar proteins: A0JNT9, A0JPP8, A1X157, O15169, O75145, O75335, P39880, P60469, Q07DZ5, Q08CF3, Q08E13, Q09YM8, Q2M1P5, Q2QLG9, Q2VUH7, Q32PN7, Q3TMW1, Q3UHC7, Q3UIL6, Q3UIW5, Q3UJV1, Q5DU25, Q5FWS6, Q5JU85, Q5PRF9, Q5XI59, Q5ZJ07, Q674X7, Q68UI8, Q69ZS8, Q6IPM2, Q6NZT2, Q6P402, Q6P730, Q6ZP65, Q80XS6, Q80Y83, Q8JZP9, Q8K1S6, Q8R4R9
Diamond homologs: O08755, O14529, O95948, P34237, P39880, P39881, P53564, P53565, P70298, P70403, P70512, Q13948, Q5R8V1, Q6XBJ3, Q9NJB5, Q9UBC0, A1YEY5, A1YFI3, A1YG57, A2T733, A2T7P4, O15499, O35652, P09082, P0CJ85, P0CJ86, P0CJ87, P0CJ88, P0CJ89, P0CJ90, P10180, P29454, P37934, P37935, P37936, P53544, P53545, P53546, P55813, P56915
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDK1 | down-regulates | CUX1 | phosphorylation |
| CUX1 | “down-regulates quantity by repression” | PIK3IP1 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 169 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 |
|---|---|---|---|
| Deactivation of the beta-catenin transactivating complex | 7 | 13.6× | 3e-04 |
| TCF dependent signaling in response to WNT | 9 | 8.8× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| hair follicle development | 5 | 12.2× | 7e-03 |
| chondrocyte differentiation | 6 | 11.5× | 3e-03 |
| canonical Wnt signaling pathway | 7 | 6.8× | 8e-03 |
| brain development | 10 | 5.1× | 5e-03 |
| transcription by RNA polymerase II | 10 | 4.5× | 8e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 7 cancer types — BRCA, GB, LUAD, LUSC, MEL, PAAD, WDTC.
Clinical variants and AI predictions
ClinVar
627 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 23 |
| Likely pathogenic | 29 |
| Uncertain significance | 357 |
| Likely benign | 115 |
| Benign | 24 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1064787 | NM_181552.4(CUX1):c.1687C>T (p.Gln563Ter) | Pathogenic |
| 1213753 | NM_181552.4(CUX1):c.1834C>T (p.Gln612Ter) | Pathogenic |
| 1676077 | NM_001913.5(CUX1):c.1855_1856del (p.Thr619fs) | Pathogenic |
| 1803930 | NM_181552.4(CUX1):c.190-2A>G | Pathogenic |
| 1803932 | NM_181552.4(CUX1):c.3563G>A (p.Trp1188Ter) | Pathogenic |
| 1803938 | NM_181552.4(CUX1):c.538C>T (p.Gln180Ter) | Pathogenic |
| 1803942 | NM_181552.4(CUX1):c.1593del (p.Met532fs) | Pathogenic |
| 1804166 | t(7;10)(q22.1;q26.3) | Pathogenic |
| 1805954 | NM_181552.4(CUX1):c.875T>A (p.Leu292Ter) | Pathogenic |
| 1809898 | NM_181552.4(CUX1):c.3721C>T (p.Gln1241Ter) | Pathogenic |
| 2691892 | NM_181552.4(CUX1):c.3556C>T (p.Gln1186Ter) | Pathogenic |
| 3254744 | NM_181552.4(CUX1):c.2053C>T (p.Gln685Ter) | Pathogenic |
| 3257575 | GRCh37/hg19 7q22.1(chr7:101639800-101926382)x1 | Pathogenic |
| 3270347 | NM_181552.4(CUX1):c.1297C>T (p.Gln433Ter) | Pathogenic |
| 3366947 | NM_181552.4(CUX1):c.1289dup (p.Pro431fs) | Pathogenic |
| 3382169 | NM_181552.4(CUX1):c.3201del (p.Lys1068fs) | Pathogenic |
| 3498727 | NM_181552.4(CUX1):c.346C>T (p.Gln116Ter) | Pathogenic |
| 3837504 | NM_181552.4(CUX1):c.1289del (p.Pro430fs) | Pathogenic |
| 4008410 | NM_001202543.1:c.3655+190_*301del | Pathogenic |
| 4532046 | NM_181552.4(CUX1):c.466C>T (p.Gln156Ter) | Pathogenic |
| 4532047 | NM_181552.4(CUX1):c.2950C>T (p.Arg984Ter) | Pathogenic |
| 618994 | NC_000007.13:g.(101759560_?)_(?_101893297)del | Pathogenic |
| 985065 | NM_181552.4(CUX1):c.1558C>T (p.Gln520Ter) | Pathogenic |
| 1324196 | NM_181552.4(CUX1):c.530+1G>A | Likely pathogenic |
| 1690336 | NM_181552.4(CUX1):c.2986C>T (p.Arg996Ter) | Likely pathogenic |
| 1710422 | NM_001913.5(CUX1):c.1813dup (p.Leu605fs) | Likely pathogenic |
| 1803931 | NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs) | Likely pathogenic |
| 1803934 | NM_181552.4(CUX1):c.3786del (p.Tyr1263fs) | Likely pathogenic |
| 1803939 | NM_181552.4(CUX1):c.762G>C (p.Arg254Ser) | Likely pathogenic |
| 1803940 | NM_181552.4(CUX1):c.952G>T (p.Glu318Ter) | Likely pathogenic |
SpliceAI
6411 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:101817670:G:C | donor_loss | 1.0000 |
| 7:101916101:T:TA | acceptor_gain | 1.0000 |
| 7:101916110:A:AG | acceptor_gain | 1.0000 |
| 7:101916111:ACAG:A | acceptor_gain | 1.0000 |
| 7:101916112:CAG:C | acceptor_gain | 1.0000 |
| 7:101916112:CAGA:C | acceptor_loss | 1.0000 |
| 7:101916112:CAGAG:C | acceptor_gain | 1.0000 |
| 7:101916113:A:AG | acceptor_gain | 1.0000 |
| 7:101916113:A:C | acceptor_loss | 1.0000 |
| 7:101916113:AGA:A | acceptor_gain | 1.0000 |
| 7:101916113:AGAGA:A | acceptor_gain | 1.0000 |
| 7:101916114:G:GC | acceptor_gain | 1.0000 |
| 7:101916114:G:T | acceptor_gain | 1.0000 |
| 7:101916114:GA:G | acceptor_gain | 1.0000 |
| 7:101916114:GAGA:G | acceptor_gain | 1.0000 |
| 7:101916114:GAGAG:G | acceptor_gain | 1.0000 |
| 7:101916221:CAGAG:C | donor_loss | 1.0000 |
| 7:101916222:AGAGG:A | donor_loss | 1.0000 |
| 7:101916223:GAG:G | donor_gain | 1.0000 |
| 7:101916224:AGG:A | donor_loss | 1.0000 |
| 7:101916225:GG:G | donor_loss | 1.0000 |
| 7:101916226:GT:G | donor_loss | 1.0000 |
| 7:101916227:T:A | donor_loss | 1.0000 |
| 7:102028062:A:AG | acceptor_gain | 1.0000 |
| 7:102028062:AAAT:A | acceptor_gain | 1.0000 |
| 7:102028062:AAATG:A | acceptor_gain | 1.0000 |
| 7:102028063:A:AG | acceptor_gain | 1.0000 |
| 7:102028063:AAT:A | acceptor_gain | 1.0000 |
| 7:102028063:AATG:A | acceptor_gain | 1.0000 |
| 7:102028064:A:G | acceptor_gain | 1.0000 |
AlphaMissense
9803 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:101916185:T:C | L34P | 1.000 |
| 7:101916206:T:C | F41S | 1.000 |
| 7:101916210:G:C | K42N | 1.000 |
| 7:101916210:G:T | K42N | 1.000 |
| 7:102028126:T:C | L57P | 1.000 |
| 7:102070349:T:C | L67P | 1.000 |
| 7:102070369:G:C | A74P | 1.000 |
| 7:102070382:T:C | F78S | 1.000 |
| 7:102097448:T:C | L118P | 1.000 |
| 7:102097460:T:C | L122P | 1.000 |
| 7:102104345:T:A | I139K | 1.000 |
| 7:102104354:T:C | L142P | 1.000 |
| 7:102115240:T:C | L214P | 1.000 |
| 7:102158592:T:C | L236P | 1.000 |
| 7:102158600:G:C | A239P | 1.000 |
| 7:102170449:G:C | A243P | 1.000 |
| 7:102189817:T:C | L341P | 1.000 |
| 7:102197081:C:A | A557D | 1.000 |
| 7:102197090:T:A | V560D | 1.000 |
| 7:102197093:A:T | K561I | 1.000 |
| 7:102197094:A:C | K561N | 1.000 |
| 7:102197094:A:T | K561N | 1.000 |
| 7:102197102:T:A | L564Q | 1.000 |
| 7:102197102:T:C | L564P | 1.000 |
| 7:102197102:T:G | L564R | 1.000 |
| 7:102197111:A:C | H567P | 1.000 |
| 7:102197117:T:A | I569N | 1.000 |
| 7:102197119:G:A | G570R | 1.000 |
| 7:102197119:G:C | G570R | 1.000 |
| 7:102197120:G:A | G570E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007831 (7:101951930 G>A), RS1000010221 (7:101996169 G>T), RS1000049436 (7:102212354 C>T), RS1000051880 (7:102262073 C>A), RS1000054437 (7:101837142 A>T), RS1000059114 (7:101878608 A>G), RS1000059323 (7:101951600 G>A,T), RS1000071967 (7:102071037 C>A,G), RS1000093720 (7:102109523 C>G,T), RS1000105639 (7:101876505 G>A), RS1000109387 (7:102182927 G>A), RS1000110664 (7:102153400 C>T), RS1000114005 (7:102252439 C>A), RS1000117200 (7:101834028 C>T), RS1000118900 (7:101990301 G>A,T)
Disease associations
OMIM: gene MIM:116896 | disease phenotypes: MIM:618330, MIM:126800, MIM:608636
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| global developmental delay with or without impaired intellectual development | Definitive | Autosomal dominant |
| autosomal dominant non-syndromic intellectual disability | Supportive | Autosomal dominant |
Mondo (7): global developmental delay with or without impaired intellectual development (MONDO:0032680), neurodevelopmental disorder (MONDO:0700092), Duane retraction syndrome (MONDO:0007473), myeloproliferative neoplasm (MONDO:0020076), 15q11q13 microduplication syndrome (MONDO:0012081), intellectual disability (MONDO:0001071), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)
Orphanet (4): Duane retraction syndrome (Orphanet:233), Myeloproliferative neoplasm (Orphanet:98274), 15q11q13 microduplication syndrome (Orphanet:238446), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
27 total (27 of 27 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000047 | Hypospadias |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000276 | Long face |
| HP:0000337 | Broad forehead |
| HP:0000369 | Low-set ears |
| HP:0000414 | Bulbous nose |
| HP:0000601 | Hypotelorism |
| HP:0000637 | Long palpebral fissure |
| HP:0000677 | Oligodontia |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001357 | Plagiocephaly |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0002007 | Frontal bossing |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007010 | Poor fine motor coordination |
| HP:0012704 | Widened subarachnoid space |
| HP:0100632 | Pulmonary sequestration |
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001528_1 | Response to antidepressants | 2.000000e-06 |
| GCST003657_7 | Attention deficit hyperactivity disorder symptom score | 7.000000e-06 |
| GCST003726_24 | Basal cell carcinoma | 2.000000e-13 |
| GCST004599_54 | Mean platelet volume | 2.000000e-32 |
| GCST004599_55 | Mean platelet volume | 1.000000e-09 |
| GCST004607_157 | Plateletcrit | 4.000000e-12 |
| GCST004616_188 | Platelet distribution width | 7.000000e-34 |
| GCST004619_28 | Reticulocyte fraction of red cells | 2.000000e-09 |
| GCST004622_5 | Reticulocyte count | 2.000000e-09 |
| GCST004988_663 | Breast cancer | 5.000000e-12 |
| GCST005316_8 | Intelligence (MTAG) | 3.000000e-09 |
| GCST007565_30 | Morning person | 5.000000e-14 |
| GCST007576_426 | Chronotype | 5.000000e-14 |
| GCST008870_66 | Keratinocyte cancer (MTAG) | 3.000000e-19 |
| GCST008871_61 | Basal cell carcinoma | 1.000000e-24 |
| GCST009203_4 | Cerebellum cortex volume | 3.000000e-06 |
| GCST009724_11 | Vertical cup-disc ratio (multi-trait analysis) | 7.000000e-10 |
| GCST010242_236 | HDL cholesterol levels | 1.000000e-08 |
| GCST90002381_457 | Eosinophil count | 1.000000e-13 |
| GCST90002382_157 | Eosinophil percentage of white cells | 1.000000e-11 |
| GCST90002385_146 | High light scatter reticulocyte count | 1.000000e-09 |
| GCST90002386_457 | High light scatter reticulocyte percentage of red cells | 9.000000e-10 |
| GCST90002395_694 | Mean platelet volume | 1.000000e-66 |
| GCST90002395_695 | Mean platelet volume | 1.000000e-17 |
| GCST90002400_45 | Plateletcrit | 3.000000e-46 |
| GCST90002400_46 | Plateletcrit | 7.000000e-10 |
| GCST90002401_463 | Platelet distribution width | 3.000000e-70 |
| GCST90002405_486 | Reticulocyte count | 3.000000e-18 |
| GCST90002406_254 | Reticulocyte fraction of red cells | 4.000000e-17 |
| GCST90013410_8 | Basal cell carcinoma | 5.000000e-17 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007860 | ADHD symptom measurement |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
| EFO:0007986 | reticulocyte count |
| EFO:0004337 | intelligence |
| EFO:0008328 | chronotype measurement |
| EFO:0010176 | keratinocyte carcinoma |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004370 | Duane Retraction Syndrome | C10.292.562.700.375.500; C11.270.235; C11.590.436.400.500; C16.320.290.235 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs201522 | CUX1 | 0.00 | 0 | ||
| rs365836 | CUX1 | 0.00 | 0 |
CTD chemical–gene interactions
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression, affects expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Hydrogen Peroxide | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases methylation | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| pyrimidin-2-one beta-ribofuranoside | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | affects phosphorylation | 1 |
Cellosaurus cell lines
4 cell lines: 3 embryonic stem cell, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0V3 | SEES3-1V human CUX1, clone1 | Embryonic stem cell | Male |
| CVCL_A0V4 | SEES3-1V human CUX1, clone2 | Embryonic stem cell | Male |
| CVCL_A0V5 | SEES3-1V human CUX1, clone3 | Embryonic stem cell | Male |
| CVCL_GZ78 | K562 eGFP-CUX1 | Cancer cell line | Female |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
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| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
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| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
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| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
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| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: global developmental delay with or without impaired intellectual development, autosomal dominant non-syndromic intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): 15q11q13 microduplication syndrome, autosomal dominant non-syndromic intellectual disability, basal cell carcinoma, Duane retraction syndrome, global developmental delay with or without impaired intellectual development, myeloproliferative neoplasm