ICE1
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Summary
ICE1 (interactor of little elongation complex ELL subunit 1, HGNC:29154) is a protein-coding gene on chromosome 5p15.32, encoding Little elongation complex subunit 1 (Q9Y2F5). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. It is a selective cancer dependency (DepMap: 82.9% of cell lines).
Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex.
Source: NCBI Gene 23379 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability (Moderate, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 374 total
- Cancer dependency (DepMap): dependent in 82.9% of screened cell lines
- MANE Select transcript:
NM_015325
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29154 |
| Approved symbol | ICE1 |
| Name | interactor of little elongation complex ELL subunit 1 |
| Location | 5p15.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000164151 |
| Ensembl biotype | protein_coding |
| OMIM | 617958 |
| Entrez | 23379 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000296564, ENST00000505464, ENST00000512608
RefSeq mRNA: 1 — MANE Select: NM_015325
NM_015325
CCDS: CCDS47187
Canonical transcript exons
ENST00000296564 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001081889 | 5486721 | 5486819 |
| ENSE00001169103 | 5475973 | 5476079 |
| ENSE00001169114 | 5473558 | 5473748 |
| ENSE00001169120 | 5468828 | 5468988 |
| ENSE00001169126 | 5466334 | 5466502 |
| ENSE00001225275 | 5489149 | 5490220 |
| ENSE00001225283 | 5460436 | 5465226 |
| ENSE00001492689 | 5457332 | 5457741 |
| ENSE00001492690 | 5454552 | 5454638 |
| ENSE00001492706 | 5422677 | 5422999 |
| ENSE00003470854 | 5439895 | 5439913 |
| ENSE00003478533 | 5437080 | 5437114 |
| ENSE00003574696 | 5441112 | 5441223 |
| ENSE00003592164 | 5436418 | 5436476 |
| ENSE00003754939 | 5443168 | 5443244 |
| ENSE00003756642 | 5447721 | 5447760 |
| ENSE00003757626 | 5444289 | 5444326 |
| ENSE00003758302 | 5447841 | 5447897 |
| ENSE00003760331 | 5447427 | 5447509 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 95.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9103 / max 129.3115, expressed in 1804 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 55623 | 20.6242 | 1804 |
| 55624 | 0.2691 | 92 |
| 203478 | 0.0126 | 2 |
| 55625 | 0.0043 | 1 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 95.74 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.86 | gold quality |
| secondary oocyte | CL:0000655 | 92.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.17 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.16 | gold quality |
| parietal pleura | UBERON:0002400 | 92.09 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.90 | gold quality |
| pleura | UBERON:0000977 | 91.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.84 | gold quality |
| visceral pleura | UBERON:0002401 | 91.77 | gold quality |
| biceps brachii | UBERON:0001507 | 91.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.57 | gold quality |
| blood vessel layer | UBERON:0004797 | 91.55 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.40 | gold quality |
| tendon | UBERON:0000043 | 91.35 | gold quality |
| skin of hip | UBERON:0001554 | 91.15 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.09 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.00 | gold quality |
| endothelial cell | CL:0000115 | 90.60 | gold quality |
| oocyte | CL:0000023 | 90.53 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.17 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.98 | gold quality |
| renal medulla | UBERON:0000362 | 89.94 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 89.80 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.64 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 89.57 | gold quality |
| jejunum | UBERON:0002115 | 89.54 | gold quality |
| urethra | UBERON:0000057 | 89.53 | gold quality |
| endometrium epithelium | UBERON:0004811 | 89.52 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.51 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 82.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Multigenerational autosomal dominant inheritance of 5p chromosomal deletions resulting in Cri-du-Chat Syndrome with SEMA5A, CTNND2, and ICE1 deficiencies has been described. (PMID:26601658)
- The results indicate that p53 interferes with the interaction between ELL/EAF and ICE1 and represses transcription of small nuclear RNA genes by Pol II. (PMID:27268141)
- RNAseq studies reveal that depletion of ICE1 globally enhances accumulation and stability of NMD-target mRNAs. Further, our data suggest that ICE1 uses a putative MIF4G domain to interact with exon junction complex (EJC) proteins and promotes the association of the NMD protein UPF3B with the EJC. (PMID:29528287)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ice1 | ENSDARG00000058461 |
| mus_musculus | Ice1 | ENSMUSG00000034525 |
| rattus_norvegicus | Ice1 | ENSRNOG00000023053 |
| drosophila_melanogaster | Paf-AHalpha | FBGN0025809 |
Paralogs (2): PAFAH1B3 (ENSG00000079462), PAFAH1B2 (ENSG00000168092)
Protein
Protein identifiers
Little elongation complex subunit 1 — Q9Y2F5 (reviewed: Q9Y2F5)
Alternative names: Interactor of little elongator complex ELL subunit 1
All UniProt accessions (2): A0A096LPH9, Q9Y2F5
UniProt curated annotations — full annotation on UniProt →
Function. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies.
Subunit / interactions. Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts (via N-terminus domain) with ELL. Interacts (via C-terminus domain) with ICE2 and ZC3H8.
Subcellular location. Nucleus. Cajal body.
Domain organisation. The N-termimus domain is necessary and sufficient for its targeting to subnuclear cajal and histone locus bodies.
Similarity. Belongs to the ICE1 family.
RefSeq proteins (1): NP_056140* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR057881 | ICE1_C | Domain |
Pfam: PF25817
UniProt features (58 total): modified residue 20, compositionally biased region 13, region of interest 10, sequence variant 7, sequence conflict 6, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2F5-F1 | 45.16 | 0.07 |
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 (20): 255, 533, 558, 589, 707, 832, 925, 958, 1218, 1588, 1617, 1642, 1692, 1697, 1699, 1701, 1712, 1838, 1854, 1903
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
MSigDB gene sets: 175 (showing top):
MORF_SMC1L1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, MORF_HDAC2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, MORF_BUB3, MORF_RFC4, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GARY_CD5_TARGETS_DN
GO Biological Process (5): positive regulation of protein-containing complex assembly (GO:0031334), snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796), positive regulation of transcription by RNA polymerase III (GO:0045945), positive regulation of intracellular protein transport (GO:0090316)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (7): euchromatin (GO:0000791), nucleoplasm (GO:0005654), transcription elongation factor complex (GO:0008023), Cajal body (GO:0015030), nuclear body (GO:0016604), histone locus body (GO:0035363), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| snRNA transcription | 2 |
| transcription by RNA polymerase III | 2 |
| nucleoplasm | 2 |
| nuclear ribonucleoprotein granule | 2 |
| regulation of protein-containing complex assembly | 1 |
| positive regulation of cellular component biogenesis | 1 |
| positive regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| transcription by RNA polymerase II | 1 |
| regulation of transcription by RNA polymerase III | 1 |
| positive regulation of DNA-templated transcription | 1 |
| intracellular protein transport | 1 |
| positive regulation of intracellular transport | 1 |
| regulation of intracellular protein transport | 1 |
| positive regulation of protein transport | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| chromatin | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
770 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ICE1 | ICE2 | Q659A1 | 985 |
| ICE1 | ZC3H8 | Q8N5P1 | 878 |
| ICE1 | ELL | P55199 | 731 |
| ICE1 | ZNF346 | Q9UL40 | 667 |
| ICE1 | FRZB | Q92765 | 645 |
| ICE1 | AZIN2 | Q96A70 | 549 |
| ICE1 | EEF1AKMT4-ECE2 | P0DPD8 | 505 |
| ICE1 | NBAS | A2RRP1 | 498 |
| ICE1 | DHX34 | Q14147 | 481 |
| ICE1 | ECE2 | P0DPD6 | 478 |
| ICE1 | SRSF1 | Q07955 | 468 |
| ICE1 | CEBPZ | Q03701 | 434 |
| ICE1 | CASP2 | P42575 | 414 |
| ICE1 | RPN1 | P04843 | 407 |
| ICE1 | BTBD19 | C9JJ37 | 397 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| ELL3 | ICE2 | psi-mi:“MI:0914”(association) | 0.730 |
| ELL3 | CCNT1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| ICE1 | ELL | psi-mi:“MI:0915”(physical association) | 0.620 |
| ELL | ICE2 | psi-mi:“MI:0914”(association) | 0.620 |
| ICE2 | ELL | psi-mi:“MI:0914”(association) | 0.620 |
| ICE1 | ELL | psi-mi:“MI:0914”(association) | 0.620 |
| DYRK1B | BMAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDC7 | ICE1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ICE1 | BTRC | psi-mi:“MI:0915”(physical association) | 0.370 |
| AIMP2 | ICE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OFD1 | CCDC14 | psi-mi:“MI:0914”(association) | 0.350 |
| Kif20b | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT7 | SSR3 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX8 | CMSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ECPAS | psi-mi:“MI:0914”(association) | 0.350 | |
| FGFR1OP2 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (77): COIL (Co-localization), USPL1 (Co-localization), ICE1 (Co-localization), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Biochemical Activity), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1
Diamond homologs: E9Q286, Q9Y2F5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ICE1 | “form complex” | ELL/ICE1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RNA polymerase II transcribes snRNA genes | 6 | 25.0× | 3e-05 |
| mRNA Polyadenylation | 6 | 14.2× | 3e-04 |
| mRNA Splicing - Major Pathway | 8 | 11.8× | 3e-05 |
| Processing of Capped Intron-Containing Pre-mRNA | 5 | 11.1× | 3e-03 |
| Dengue Virus-Host Interactions | 7 | 8.6× | 8e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 6 | 36.9× | 3e-06 |
| mRNA splicing, via spliceosome | 6 | 11.2× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
374 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 299 |
| Likely benign | 35 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3481 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:5435147:G:GT | donor_gain | 1.0000 |
| 5:5436412:TTTCA:T | acceptor_loss | 1.0000 |
| 5:5436413:TTCAG:T | acceptor_loss | 1.0000 |
| 5:5436414:TCA:T | acceptor_loss | 1.0000 |
| 5:5436415:CAGAA:C | acceptor_loss | 1.0000 |
| 5:5436416:A:AC | acceptor_loss | 1.0000 |
| 5:5436416:A:AG | acceptor_gain | 1.0000 |
| 5:5436417:G:GG | acceptor_gain | 1.0000 |
| 5:5436417:GA:G | acceptor_gain | 1.0000 |
| 5:5436417:GAA:G | acceptor_gain | 1.0000 |
| 5:5436475:GA:G | donor_gain | 1.0000 |
| 5:5436477:G:GG | donor_gain | 1.0000 |
| 5:5437139:T:G | donor_gain | 1.0000 |
| 5:5441110:A:AG | acceptor_gain | 1.0000 |
| 5:5441111:G:GG | acceptor_gain | 1.0000 |
| 5:5441111:GA:G | acceptor_gain | 1.0000 |
| 5:5441111:GAGA:G | acceptor_gain | 1.0000 |
| 5:5441222:AGG:A | donor_loss | 1.0000 |
| 5:5441224:GTATG:G | donor_loss | 1.0000 |
| 5:5441225:T:A | donor_loss | 1.0000 |
| 5:5443164:A:AG | acceptor_gain | 1.0000 |
| 5:5443165:A:G | acceptor_gain | 1.0000 |
| 5:5443166:A:AC | acceptor_loss | 1.0000 |
| 5:5443166:A:AG | acceptor_gain | 1.0000 |
| 5:5443167:G:GG | acceptor_gain | 1.0000 |
| 5:5443167:GA:G | acceptor_gain | 1.0000 |
| 5:5443167:GAGT:G | acceptor_gain | 1.0000 |
| 5:5443167:GAGTT:G | acceptor_gain | 1.0000 |
| 5:5443240:GCTCA:G | donor_gain | 1.0000 |
| 5:5443241:CTCA:C | donor_gain | 1.0000 |
AlphaMissense
14880 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:5436455:A:T | K41I | 1.000 |
| 5:5436456:A:C | K41N | 0.999 |
| 5:5436456:A:T | K41N | 0.999 |
| 5:5437088:T:C | L51S | 0.999 |
| 5:5439898:T:C | L61P | 0.999 |
| 5:5473720:T:A | W2129R | 0.999 |
| 5:5473720:T:C | W2129R | 0.999 |
| 5:5475983:T:A | W2142R | 0.999 |
| 5:5475983:T:C | W2142R | 0.999 |
| 5:5476001:T:A | W2148R | 0.999 |
| 5:5476001:T:C | W2148R | 0.999 |
| 5:5436452:T:C | L40S | 0.998 |
| 5:5436454:A:G | K41E | 0.998 |
| 5:5436458:A:C | Q42P | 0.998 |
| 5:5436464:T:C | I44T | 0.998 |
| 5:5437096:T:G | Y54D | 0.998 |
| 5:5441210:T:C | L99P | 0.998 |
| 5:5444321:T:C | L140P | 0.998 |
| 5:5466446:G:C | R2002P | 0.998 |
| 5:5468872:T:A | W2036R | 0.998 |
| 5:5468872:T:C | W2036R | 0.998 |
| 5:5475981:T:C | L2141P | 0.998 |
| 5:5476068:T:C | L2170P | 0.998 |
| 5:5476074:T:C | L2172P | 0.998 |
| 5:5489241:T:A | W2238R | 0.998 |
| 5:5489241:T:C | W2238R | 0.998 |
| 5:5436422:T:C | L30S | 0.997 |
| 5:5436430:T:C | Y33H | 0.997 |
| 5:5436439:G:C | A36P | 0.997 |
| 5:5436443:T:C | L37S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000015553 (5:5455691 C>A,G), RS1000027696 (5:5476854 C>A), RS1000075257 (5:5462849 C>T), RS1000173559 (5:5479278 G>T), RS1000180632 (5:5468487 A>G), RS1000187957 (5:5478348 C>T), RS1000200564 (5:5427657 T>C), RS1000349508 (5:5426483 A>G), RS1000380780 (5:5450513 G>A), RS1000405196 (5:5475089 C>T), RS1000409205 (5:5444588 A>G), RS1000457630 (5:5421635 G>A), RS1000493303 (5:5485511 C>G,T), RS1000558903 (5:5421906 A>G), RS1000613162 (5:5427399 A>C,G)
Disease associations
OMIM: gene MIM:617958 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Moderate | Autosomal recessive |
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001996_1 | Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) | 4.000000e-06 |
| GCST002337_148 | Amyotrophic lateral sclerosis (sporadic) | 1.000000e-06 |
| GCST009391_1378 | Metabolite levels | 9.000000e-06 |
| GCST009391_898 | Metabolite levels | 4.000000e-06 |
| GCST90000025_297 | Appendicular lean mass | 2.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010367 | lysophosphatidylethanolamine 18:0 measurement |
| EFO:0010441 | triacylglycerol 58:7 measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| potassium chromate(VI) | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| tamibarotene | affects expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Lead | affects methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
- Associated diseases: intellectual disability