CELF4
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Summary
CELF4 (CUGBP Elav-like family member 4, HGNC:14015) is a protein-coding gene on chromosome 18q12.2, encoding CUGBP Elav-like family member 4 (Q9BZC1). RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing.
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 56853 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Definitive, GenCC) — +1 more curated relationship
- GWAS associations: 36 (top 3% of genes corpus-wide)
- Clinical variants (ClinVar): 122 total — 1 pathogenic
- Regional missense constraint (gnomAD): 3 of 7 regions constrained (≈11% of expected missense variation)
- GTEx eGene: eQTL in 24 tissues, sQTL in 1 (q < 0.05)
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- Constraint (gnomAD): pLI 0.84 (intermediate), LOEUF 0.55 (moderately constrained)
- MANE Select transcript:
NM_020180
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14015 |
| Approved symbol | CELF4 |
| Name | CUGBP Elav-like family member 4 |
| Location | 18q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000101489 |
| Ensembl biotype | protein_coding |
| OMIM | 612679 |
| Entrez | 56853 |
Gene structure
Transcript identifiers
Ensembl transcripts: 52 — 46 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
MANE Select: ENST00000420428
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 6, TSL 2: 5, TSL 3: 8, TSL 4: 1, TSL 5: 3
ENST00000420428, ENST00000334919, ENST00000361795, ENST00000586009, ENST00000587074, ENST00000587449, ENST00000587657, ENST00000587819, ENST00000587911, ENST00000587924, ENST00000588591, ENST00000588597, ENST00000589229, ENST00000589386, ENST00000590011, ENST00000590112, ENST00000591282, ENST00000591287, ENST00000591421, ENST00000593271, ENST00000601019, ENST00000601392, ENST00000603232, ENST00000899355, ENST00000899356, ENST00000899357, ENST00000899358, ENST00000899359, ENST00000899360, ENST00000899361, ENST00000899362, ENST00000899363, ENST00000899364, ENST00000899365, ENST00000931906, ENST00000970536, ENST00000970537, ENST00000970538, ENST00000970539, ENST00000970540, ENST00000970541, ENST00000970542, ENST00000970543, ENST00000970544, ENST00000970545, ENST00000970546, ENST00001009546, ENST00001009547, ENST00001009548, ENST00001009549, ENST00001098493, ENST00001131485
RefSeq mRNA: 70 — MANE Select: NM_020180
NM_001025087, NM_001025088, NM_001025089, NM_001330603, NM_001353695, NM_001353696, NM_001353697, NM_001353698, NM_001353699, NM_001353700, NM_001353702, NM_001353703, NM_001353705, NM_001353706, NM_001353707, NM_001353708, NM_001353709, NM_001353710, NM_001353711, NM_001353712, NM_001353713, NM_001353714, NM_001353715, NM_001353716, NM_001353717, NM_001353718, NM_001353719, NM_001353720, NM_001353721, NM_001353722, NM_001353723, NM_001353724, NM_001353725, NM_001353726, NM_001353727, NM_001353728, NM_001353729, NM_001353730, NM_001353731, NM_001353732, NM_001353733, NM_001353734, NM_001353735, NM_001353736, NM_001353737, NM_001353738, NM_001353739, NM_001353740, NM_001353741, NM_001353742, NM_001353743, NM_001353744, NM_001353745, NM_001353746, NM_001353747, NM_001353748, NM_001353749, NM_001353750, NM_001353751, NM_001353752, NM_001353753, NM_001353754, NM_001353755, NM_001353756, NM_001353757, NM_001353758, NM_001353759, NM_001353760, NM_001353761, NM_020180
CCDS: CCDS32818, CCDS45856, CCDS45857, CCDS45858, CCDS82250
Canonical transcript exons
ENST00000420428 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002725604 | 37565356 | 37565798 |
| ENSE00003469310 | 37485525 | 37485607 |
| ENSE00003475741 | 37266533 | 37266598 |
| ENSE00003485344 | 37259181 | 37259264 |
| ENSE00003506464 | 37270768 | 37270917 |
| ENSE00003569898 | 37273016 | 37273163 |
| ENSE00003632296 | 37264674 | 37264757 |
| ENSE00003658067 | 37253767 | 37253938 |
| ENSE00003847371 | 37243040 | 37245197 |
| ENSE00003889351 | 37275115 | 37275243 |
| ENSE00003889387 | 37274311 | 37274454 |
| ENSE00003891907 | 37321803 | 37321881 |
| ENSE00003892208 | 37274805 | 37274884 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 97.29.
FANTOM5 (CAGE): breadth broad, TPM avg 5.0549 / max 1047.8138, expressed in 310 samples.
Highest expression (Bgee): cerebellar cortex, cerebellar hemisphere, Brodmann (1909) area 9, hemisphere of cerebellum, primary visual cortex.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CELF4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 24 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 25 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Nerve Tibial | eqtl | 2.7e-29 | -0.67 | 18:36949475:A:C |
| Testis | sqtl | 2.6e-22 | +0.96 | 18:37322162:T:G |
| Skin Sun Exposed Lower leg | eqtl | 2.0e-20 | -0.60 | 18:36995714:G:T |
| Skin Not Sun Exposed Suprapubic | eqtl | 4.0e-13 | -0.54 | 18:36949475:A:C |
| Esophagus Mucosa | eqtl | 2.0e-12 | -0.59 | 18:36879775:G:A |
| Thyroid | eqtl | 4.5e-12 | +0.46 | 18:36923067:C:T |
| Artery Tibial | eqtl | 2.0e-10 | -0.45 | 18:37103271:G:T |
| Breast Mammary Tissue | eqtl | 4.7e-08 | -0.42 | 18:36848399:A:T |
| Adipose Subcutaneous | eqtl | 8.5e-08 | -0.38 | 18:37229747:G:A |
| Esophagus Muscularis | eqtl | 3.7e-06 | -0.21 | 18:37162663:C:T |
| Colon Transverse | eqtl | 5.1e-05 | -0.15 | 18:37252704:G:A |
| Artery Aorta | eqtl | 6.2e-05 | -0.36 | 18:37258244:C:T |
| Muscle Skeletal | eqtl | 3.4e-04 | -0.29 | 18:37216697:G:C |
| Small Intestine Terminal Ileum | eqtl | 5.4e-04 | -0.36 | 18:37166595:T:G |
| Brain Hippocampus | eqtl | 6.9e-04 | +0.37 | 18:37707164:A:G |
| Ovary | eqtl | 1.3e-03 | -0.44 | 18:37192536:A:G |
| Brain Cortex | eqtl | 1.4e-03 | -0.15 | 18:37251003:A:G |
| Artery Coronary | eqtl | 1.4e-03 | -0.48 | 18:37261740:G:T |
| Vagina | eqtl | 1.9e-03 | -0.43 | 18:37223202:A:G |
| Lung | eqtl | 3.2e-03 | -0.28 | 18:37252704:G:A |
FANTOM5 promoters
showing 10 of 11 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171723 | 2.6440 | 137 |
| 171722 | 0.7488 | 103 |
| 171705 | 0.3728 | 137 |
| 171725 | 0.3664 | 104 |
| 171720 | 0.2990 | 88 |
| 171712 | 0.1781 | 92 |
| 171713 | 0.1676 | 61 |
| 171721 | 0.1316 | 60 |
| 171724 | 0.0657 | 39 |
| 171718 | 0.0429 | 31 |
Top tissues by expression
showing 100 of 252 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 97.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.28 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.15 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.08 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.01 | gold quality |
| cerebellum | UBERON:0002037 | 96.93 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.66 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.55 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.50 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.35 | gold quality |
| frontal cortex | UBERON:0001870 | 96.21 | gold quality |
| neocortex | UBERON:0001950 | 95.87 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.83 | gold quality |
| occipital lobe | UBERON:0002021 | 95.66 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.58 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.43 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.33 | gold quality |
| amygdala | UBERON:0001876 | 95.29 | gold quality |
| hypothalamus | UBERON:0001898 | 95.29 | gold quality |
| temporal lobe | UBERON:0001871 | 95.16 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.14 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.60 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.53 | gold quality |
| parietal lobe | UBERON:0001872 | 94.46 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.39 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.36 | gold quality |
| brain | UBERON:0000955 | 94.01 | gold quality |
| forebrain | UBERON:0001890 | 93.99 | gold quality |
| Ammon’s horn | UBERON:0001954 | 93.77 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.07 | gold quality |
| cortical plate | UBERON:0005343 | 92.90 | gold quality |
| putamen | UBERON:0001874 | 92.85 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.75 | gold quality |
| pons | UBERON:0000988 | 92.21 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.67 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.53 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.46 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.30 | gold quality |
| substantia nigra | UBERON:0002038 | 90.18 | gold quality |
| midbrain | UBERON:0001891 | 90.08 | gold quality |
| pituitary gland | UBERON:0000007 | 90.03 | gold quality |
| endothelial cell | CL:0000115 | 87.77 | gold quality |
| medulla oblongata | UBERON:0001896 | 87.14 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.19 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 83.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.53 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.11 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 79.06 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.80 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 78.74 | gold quality |
| spinal cord | UBERON:0002240 | 78.09 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.77 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 77.40 | gold quality |
| pancreatic ductal cell | CL:0002079 | 76.02 | silver quality |
| sural nerve | UBERON:0015488 | 75.86 | gold quality |
| ventricular zone | UBERON:0003053 | 74.06 | gold quality |
| globus pallidus | UBERON:0001875 | 73.17 | gold quality |
| medial globus pallidus | UBERON:0002477 | 72.32 | gold quality |
| pancreas | UBERON:0001264 | 71.72 | gold quality |
| body of pancreas | UBERON:0001150 | 69.40 | gold quality |
| adult organism | UBERON:0007023 | 69.35 | silver quality |
| left testis | UBERON:0004533 | 69.20 | gold quality |
| right testis | UBERON:0004534 | 68.57 | gold quality |
| testis | UBERON:0000473 | 67.66 | gold quality |
| corpus callosum | UBERON:0002336 | 66.95 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 66.34 | gold quality |
| body of stomach | UBERON:0001161 | 66.21 | gold quality |
| gall bladder | UBERON:0002110 | 66.10 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 65.94 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 65.34 | gold quality |
| stomach | UBERON:0000945 | 64.39 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 64.05 | gold quality |
| left ovary | UBERON:0002119 | 63.50 | gold quality |
| colonic epithelium | UBERON:0000397 | 63.44 | gold quality |
| vermiform appendix | UBERON:0001154 | 62.77 | gold quality |
| anatomical system | UBERON:0000467 | 61.77 | gold quality |
| parotid gland | UBERON:0001831 | 61.71 | gold quality |
| fundus of stomach | UBERON:0001160 | 61.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 61.65 | gold quality |
| apex of heart | UBERON:0002098 | 61.59 | gold quality |
| multicellular organism | UBERON:0000468 | 61.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 61.42 | gold quality |
| material anatomical entity | UBERON:0000465 | 61.40 | gold quality |
| adrenal gland | UBERON:0002369 | 61.17 | gold quality |
| tibialis anterior | UBERON:0001385 | 60.99 | silver quality |
| cortex of kidney | UBERON:0001225 | 60.70 | gold quality |
| right ovary | UBERON:0002118 | 60.48 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 60.43 | gold quality |
| left adrenal gland | UBERON:0001234 | 60.03 | gold quality |
| right atrium auricular region | UBERON:0006631 | 59.63 | gold quality |
| ovary | UBERON:0000992 | 59.18 | gold quality |
| cardiac atrium | UBERON:0002081 | 59.05 | gold quality |
| adrenal cortex | UBERON:0001235 | 59.00 | gold quality |
| oviduct epithelium | UBERON:0004804 | 58.79 | silver quality |
| lower esophagus muscularis layer | UBERON:0035833 | 58.62 | gold quality |
| lower esophagus | UBERON:0013473 | 58.48 | gold quality |
| adrenal tissue | UBERON:0018303 | 58.48 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 58.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 57.89 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 954.02 |
| E-MTAB-11121 | yes | 690.43 |
| E-HCAD-5 | yes | 519.48 |
| E-GEOD-75140 | yes | 90.69 |
| E-HCAD-35 | yes | 63.73 |
| E-HCAD-25 | yes | 36.94 |
| E-GEOD-93593 | yes | 16.57 |
| E-GEOD-137537 | yes | 11.04 |
| E-GEOD-84465 | yes | 7.06 |
| E-ANND-3 | yes | 4.07 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 75 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Postcentral gyrus | tissue | 235.2 | |
| Frontal cortex | tissue | 230.9 | |
| Hippocampus | tissue | 147.3 | low |
| Caudate putamen | tissue | 146.4 | |
| Locus coeruleus | tissue | 143.4 | |
| Nucleus accumbens | tissue | 94.2 | |
| Prefrontal cortex | tissue | 92.4 | |
| Cerebral cortex | tissue | 92.4 | medium |
| Cerebellum | tissue | 92.0 | low |
| Basal ganglia | tissue | 87.0 | medium |
| Hippocampal formation | tissue | 85.5 | |
| Motor cortex | tissue | 85.4 | |
| Olfactory bulb | tissue | 84.7 | |
| Retrosplenial cortex | tissue | 79.6 | |
| Retrosplenial and cingulate cortex | tissue | 79.4 | |
| Insular cortex | tissue | 78.8 | |
| Entorhinal cortex | tissue | 78.3 | |
| Putamen | tissue | 77.6 | |
| Ventral forebrain | tissue | 74.5 | |
| Occipital cortex | tissue | 72.4 | |
| Somatosensory cortex | tissue | 72.2 | |
| Amygdala | tissue | 71.0 | |
| Temporal cortex | tissue | 70.3 | |
| Septum | tissue | 69.3 | |
| Pons | tissue | 67.5 | |
| Hypothalamus | tissue | 64.7 | |
| Thalamus | tissue | 61.5 | |
| Midbrain | tissue | 53.6 | |
| Substantia nigra | tissue | 52.9 | |
| Periaqueductal gray | tissue | 46.6 | |
| Superior colliculi | tissue | 40.4 | |
| Medulla oblongata | tissue | 29.1 | |
| Pituitary gland | tissue | 26.9 | |
| Retina | tissue | 19.8 | |
| Spinal cord | tissue | 18.2 | |
| Corpus callosum | tissue | 17.6 | |
| Choroid plexus | tissue | 13.5 | |
| Adrenal gland | tissue | 10.8 | not detected |
| Skeletal muscle | tissue | 10.2 | not detected |
| Pancreas | tissue | 3.7 | not detected |
| Testis | tissue | 3.4 | not detected |
| Salivary gland | tissue | 1.6 | not detected |
| Thyroid gland | tissue | 1.4 | not detected |
| Skin 1 | tissue | 1.2 | not detected |
| Small intestine | tissue | 1.2 | not detected |
| Gallbladder | tissue | 1.2 | not detected |
| Heart muscle | tissue | 1.0 | not detected |
| Spleen | tissue | 1.0 | not detected |
| Appendix | tissue | 1.0 | not detected |
| Lymph node | tissue | 0.8 | not detected |
| Stomach 1 | tissue | 0.8 | not detected |
| Placenta | tissue | 0.8 | not detected |
| Ovary | tissue | 0.7 | not detected |
| Colon | tissue | 0.7 | not detected |
| Duodenum | tissue | 0.7 | not detected |
| Prostate | tissue | 0.7 | not detected |
| Adipose tissue | tissue | 0.6 | not detected |
| Kidney | tissue | 0.6 | not detected |
| Esophagus | tissue | 0.5 | not detected |
| Smooth muscle | tissue | 0.5 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Olfactory area (212.2), Olfactory tubercle (208.0), Stria terminalis, bed nucleus (205.2), Posterior insular cortex (204.7), Perirhinal gyrus (191.2).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CELF4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 145 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Functional genomics
gnomAD constraint: pLI 0.836, LOEUF 0.546, missense Z 2.88 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000420428 splits into 7 regions with different missense tolerance; 3 are missense-constrained (≈11% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 18:37,253,814–37,274,378 | 256 / 340.8 | 0.75 | no |
| 18:37,274,379–37,274,435 | 6 / 29.6 | 0.20 | yes (p 1.4e-05) |
| 18:37,274,436–37,275,201 | 56 / 92.0 | 0.61 | no |
| 18:37,275,202–37,321,808 | 1 / 18.6 | 0.05 | yes (p 4.5e-05) |
| 18:37,321,809–37,565,429 | 63 / 110.6 | 0.57 | no |
| 18:37,565,430–37,565,493 | 4 / 27.8 | 0.14 | yes (p 6.5e-06) |
| 18:37,565,494–37,565,641 | 70 / 69.5 | 1.01 | no |
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map |
Literature-anchored findings (GeneRIF, showing 6)
- Determination of CELF4 protein domains required for RNA splicing. (PMID:14973222)
- validated occurrence of an unusual TG 3’ splice site in intron 6 (PMID:17672918)
- Authors report a modifying effect of a polymorphism of CELF4 on the dose-dependent association between anthracyclines and cardiomyopathy, which possibly occurs through a pathway that involves the expression of abnormally spliced TNNT2 variants. (PMID:26811534)
- The present study refines the molecular and neuropsychiatric phenotype associated with 18q12.2 deletion leading to CELF4 haploinsufficiency and provides evidence for a role for CELF4 in brain development and autism spectrum disorders. (PMID:28407444)
- An intronic variant in the CELF4 gene is associated with risk for colorectal cancer. (PMID:33930674)
- Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. (PMID:37758766)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | celf4 | ENSDARG00000070045 |
| mus_musculus | Celf4 | ENSMUSG00000024268 |
| rattus_norvegicus | Celf4 | ENSRNOG00000014503 |
| drosophila_melanogaster | bru1 | FBGN0000114 |
| drosophila_melanogaster | Pof | FBGN0035047 |
| drosophila_melanogaster | bru2 | FBGN0262475 |
| caenorhabditis_elegans | WBGENE00017135 | |
| caenorhabditis_elegans | WBGENE00017140 | |
| caenorhabditis_elegans | WBGENE00020354 |
Paralogs (6): CELF2 (ENSG00000048740), RBM28 (ENSG00000106344), CELF6 (ENSG00000140488), CELF1 (ENSG00000149187), CELF3 (ENSG00000159409), CELF5 (ENSG00000161082)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1932407) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 29 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased body size | 2 |
| seizures | 2 |
| absence seizures | 2 |
| tonic-clonic seizures | 2 |
| increased susceptibility to induction of seizure by inducing agent | 2 |
| decreased circulating calcium level | 1 |
| convulsive seizures | 1 |
| increased body weight | 1 |
| hyperactivity | 1 |
| abnormal seizure response to electrical stimulation | 1 |
| increased circulating insulin level | 1 |
| premature death | 1 |
| abnormal bile duct morphology | 1 |
| abnormal eye muscle morphology | 1 |
| fetal growth retardation | 1 |
| abnormal miniature excitatory postsynaptic currents | 1 |
| decreased circulating cholesterol level | 1 |
| impaired glucose tolerance | 1 |
| increased susceptibility to weight gain | 1 |
| abnormal spike wave discharge | 1 |
| postnatal lethality, incomplete penetrance | 1 |
| neonatal lethality, incomplete penetrance | 1 |
| preweaning lethality, complete penetrance | 1 |
| dual inferior vena cava | 1 |
| decreased susceptibility to induction of seizure by inducing agent | 1 |
+4 more (showing top 25).
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Pongo abelii | Q5NVC8 | 100.0% | Diamond |
| Gallus gallus | Q7T2T1 | 99.8% | Diamond |
| Oryza sativa Indica Group | B8BCZ8 | 99.5% | Diamond |
| Oryza sativa Japonica Group | Q6K271 | 99.5% | Diamond |
| Bos taurus | Q08E07 | 98.3% | Diamond |
| Macaca fascicularis | Q4R535 | 97.5% | Diamond |
| Xenopus tropicalis | A4IIM2 | 96.8% | Diamond |
| Xenopus laevis | Q7ZXE2 | 96.8% | Diamond |
| Canis lupus familiaris | Q9XSR3 | 93.8% | Diamond |
| Arabidopsis thaliana | Q9ZW36 | 92.1% | Diamond |
| Musca domestica | O17310 | 90.6% | Diamond |
| Chrysomya rufifacies | O97018 | 90.6% | Diamond |
| Plasmodium falciparum | P13824 | 65.7% | Diamond |
| Saccharomyces cerevisiae S288C | Q00916 | 46.2% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| SNORA111 | snoRNA | 106635546 |
| KIAA1328 | protein-coding | 57536 |
| TPGS2 | protein-coding | 25941 |
| FHOD3 | protein-coding | 80206 |
| MIR4318 | ncRNA | 100422857 |
Protein
Protein identifiers
CUGBP Elav-like family member 4 — Q9BZC1 (reviewed: Q9BZC1)
Alternative names: Bruno-like protein 4, CUG-BP- and ETR-3-like factor 4, RNA-binding protein BRUNOL-4
All UniProt accessions (14): A0A0A0MTT3, A0A0C4DGR1, B4DHA8, Q9BZC1, K7EJ26, K7EJD7, K7EJK3, K7EJW4, K7ENR2, K7EPX2, K7EQ97, K7ERH1, M0QY66, M0R137
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes.
Similarity. Belongs to the CELF/BRUNOL family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZC1-1 | 1 | yes |
| Q9BZC1-2 | 2 | |
| Q9BZC1-3 | 3 | |
| Q9BZC1-4 | 4 | |
| Q9BZC1-5 | 5 |
RefSeq proteins (70): NP_001020258, NP_001020259, NP_001020260, NP_001317532, NP_001340624, NP_001340625, NP_001340626, NP_001340627, NP_001340628, NP_001340629, NP_001340631, NP_001340632, NP_001340634, NP_001340635, NP_001340636, NP_001340637, NP_001340638, NP_001340639, NP_001340640, NP_001340641, NP_001340642, NP_001340643, NP_001340644, NP_001340645, NP_001340646, NP_001340647, NP_001340648, NP_001340649, NP_001340650, NP_001340651, NP_001340652, NP_001340653, NP_001340654, NP_001340655, NP_001340656, NP_001340657, NP_001340658, NP_001340659, NP_001340660, NP_001340661, NP_001340662, NP_001340663, NP_001340664, NP_001340665, NP_001340666, NP_001340667, NP_001340668, NP_001340669, NP_001340670, NP_001340671, NP_001340672, NP_001340673, NP_001340674, NP_001340675, NP_001340676, NP_001340677, NP_001340678, NP_001340679, NP_001340680, NP_001340681, NP_001340682, NP_001340683, NP_001340684, NP_001340685, NP_001340686, NP_001340687, NP_001340688, NP_001340689, NP_001340690, NP_064565* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034648 | CELF3/4/5/6_RRM1 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (35 total): strand 9, splice variant 5, sequence conflict 4, helix 4, region of interest 4, domain 3, turn 2, compositionally biased region 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 2DGP | Solution structure of the N-terminal RNA binding domain in Bruno-like 4 RNA-binding … | SOLUTION NMR | |
| 2DNK | Solution structure of RNA binding domain in Bruno-like 4 RNA binding protein | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZC1-F1 | 62.70 | 0.23 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm
Antibody reliability (HPA): IH enhanced · IF supported
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 278 (showing top):
GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, RRAGTTGT_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, HNF3ALPHA_Q6, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, GCANCTGNY_MYOD_Q6, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MEF2_02, GGGTGGRR_PAX4_03, GCGCTTT_MIR518B_MIR518C_MIR518D
GO Biological Process (10): alternative mRNA splicing, via spliceosome (GO:0000380), regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splice site recognition (GO:0006376), germ cell development (GO:0007281), embryo development ending in birth or egg hatching (GO:0009792), positive regulation of mRNA splicing, via spliceosome (GO:0048026), mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380), negative regulation of translation (GO:0017148)
GO Molecular Function (7): mRNA regulatory element binding translation repressor activity (GO:0000900), mRNA binding (GO:0003729), pre-mRNA binding (GO:0036002), BRE binding (GO:0042835), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)
GO top-level categories
31 GO namespaces:
| Category | Terms |
|---|---|
| RNA binding | 3 |
| mRNA splicing, via spliceosome | 2 |
| regulation of mRNA splicing, via spliceosome | 2 |
| RNA processing | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| alternative mRNA splicing, via spliceosome | 1 |
| spliceosomal complex assembly | 1 |
| protein-RNA complex assembly | 1 |
| developmental process involved in reproduction | 1 |
| gamete generation | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| cell development | 1 |
| embryo development | 1 |
| animal gross anatomical part developmental process | 1 |
| positive regulation of RNA splicing | 1 |
| positive regulation of mRNA processing | 1 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA metabolic process | 1 |
| translation | 1 |
| regulation of translation | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| mRNA binding | 1 |
| translation repressor activity | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| protein-containing complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).
6 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| alternative mRNA splicing, via spliceosome | BP | direct assay |
| positive regulation of mRNA splicing, via spliceosome | BP | direct assay |
| regulation of alternative mRNA splicing, via spliceosome | BP | direct assay |
| nucleoplasm | CC | direct assay |
| nucleus | CC | direct assay |
| pre-mRNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 964 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CELF4 | CEBPD | P49716 | 881 |
| CELF4 | BICD1 | Q96G01 | 837 |
| CELF4 | DDX11 | Q96FC9 | 759 |
| CELF4 | TNNT2 | P45379 | 698 |
| CELF4 | PLEKHB2 | Q96CS7 | 592 |
| CELF4 | RBFOX1 | Q9NWB1 | 532 |
| CELF4 | MBNL2 | Q5VZF2 | 515 |
| CELF4 | MBNL1 | Q9NR56 | 488 |
| CELF4 | MBNL3 | Q9NUK0 | 485 |
| CELF4 | SRSF6 | Q13247 | 477 |
| CELF4 | SRSF4 | Q08170 | 455 |
| CELF4 | RBFOX2 | O43251 | 446 |
| CELF4 | CLCN1 | P35523 | 443 |
| CELF4 | SRSF9 | Q13242 | 435 |
| CELF4 | SLC28A3 | Q9HAS3 | 419 |
IntAct
BioGRID (14 interactions; top human partners by supporting records): APP (Reconstituted Complex), AUP1 (Affinity Capture-MS), LPCAT1 (Affinity Capture-MS), LYST (Two-hybrid), MSI2 (Affinity Capture-MS), PCBP3 (Two-hybrid), POLI (Reconstituted Complex), PRR20A (Two-hybrid), PRR20B (Two-hybrid), PRR20C (Two-hybrid), PRR20D (Two-hybrid), PRR20E (Two-hybrid), RBPMS2 (Two-hybrid), TIAL1 (Two-hybrid)
SIGNOR signaling
2 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| CELF4 | “up-regulates quantity” | TNNT2 | “post transcriptional regulation” |
| CELF4 | up-regulates | Excitatory_synaptic_transmission |
Disease & clinical
Genetic variants
Variant evidence for CELF4: 122 ClinVar records (1 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation; 36 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
122 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 17 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 3774946 | NM_020180.4(CELF4):c.226G>T (p.Glu76Ter) | Pathogenic | criteria provided, single submitter | 1 |
Per-variant reference — Sugi Variant
Explore CELF4’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 1,678):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 18:37253765–37253766 | donor_loss | 1.0000 | 4 |
| 18:37264811 | acceptor_gain | 1.0000 | |
| 18:37270930 | acceptor_gain | 1.0000 | |
| 18:37273014–37273015 | donor_loss | 1.0000 | 5 |
| 18:37273164–37273165 | acceptor_loss | 1.0000 | 5 |
| 18:37273171 | acceptor_gain | 1.0000 | |
| 18:37274309–37274310 | donor_loss | 1.0000 | 4 |
| 18:37274803–37274804 | donor_loss | 1.0000 | 3 |
| 18:37485608–37485609 | acceptor_loss | 1.0000 | 6 |
| 18:37253939–37253940 | acceptor_loss | 0.9900 | 5 |
AlphaMissense
1,948 missense substitutions predicted likely pathogenic (of 3,235 scored), across 424 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M158 | 9 | 0.998 | 1.000 |
| M124 | 9 | 0.994 | 1.000 |
| M462 | 9 | 0.915 | 0.997 |
| M440 | 9 | 0.827 | 0.990 |
| F196 | 8 | 1.000 | 1.000 |
| F57 | 8 | 0.999 | 1.000 |
| D88 | 8 | 0.999 | 1.000 |
| F99 | 8 | 0.999 | 1.000 |
| H116 | 8 | 0.999 | 1.000 |
| F155 | 8 | 0.999 | 1.000 |
| D231 | 8 | 0.998 | 1.000 |
| F74 | 8 | 0.997 | 1.000 |
| H94 | 8 | 0.997 | 1.000 |
| H427 | 8 | 0.997 | 1.000 |
| F441 | 8 | 0.997 | 1.000 |
| F172 | 8 | 0.995 | 0.999 |
| F424 | 8 | 0.994 | 1.000 |
| D434 | 8 | 0.990 | 0.999 |
| S191 | 8 | 0.985 | 1.000 |
| H213 | 8 | 0.979 | 0.997 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Uterine Corpus Endometrial Carcinoma (TCGA) | unfavorable | 1.68e-05 |
Disease associations
OMIM: gene MIM:612679 | disease phenotypes:
GenCC curated gene-disease
2 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| neurodevelopmental disorder | Definitive | Autosomal dominant | |
| complex neurodevelopmental disorder | Limited | Autosomal dominant |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (7 panels, 1 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
7 panels:
| Panel | Rating |
|---|---|
| DDG2P | green |
| Early onset or syndromic epilepsy | amber |
| Hypotonic infant | amber |
| Intellectual disability | amber |
| Leukodystrophy, childhood onset | amber |
| Paediatric disorders | amber |
| Unexplained death in infancy and sudden unexplained death in childhood | amber |
Mondo (2): complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)
GWAS associations
showing 30 of 36 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST011494_24 | Daytime nap | 3e-28 |
| GCST006940_127 | Neurociticism | 4e-21 |
| GCST006951_27 | Feeling hurt | 4e-16 |
| GCST008595_68 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 6e-15 |
| GCST009524_4 | Household income (MTAG) | 4e-14 |
| GCST006947_40 | Feeling fed-up | 4e-13 |
| GCST007709_99 | General factor of neuroticism | 4e-13 |
| GCST007709_100 | General factor of neuroticism | 6e-13 |
| GCST90000514_13 | Gastroesophageal reflux disease | 1e-12 |
| GCST006944_68 | Experiencing mood swings | 9e-12 |
| GCST006946_18 | Worry too long after an embarrassing experience | 4e-11 |
| GCST006943_49 | Feeling miserable | 2e-10 |
| GCST006945_17 | Feeling guilty | 4e-10 |
| GCST008357_26 | Mood instability | 7e-10 |
| GCST009524_248 | Household income (MTAG) | 1e-9 |
| GCST009523_63 | Household income | 2e-9 |
| GCST009524_220 | Household income (MTAG) | 3e-9 |
| GCST007576_227 | Chronotype | 4e-9 |
| GCST003770_35 | Neuroticism | 6e-9 |
| GCST012355_41 | Depression | 7e-9 |
| GCST003447_9 | Neuroticism | 1e-8 |
| GCST007709_130 | General factor of neuroticism | 1e-8 |
| GCST010002_363 | Refractive error | 1e-8 |
| GCST003770_64 | Neuroticism | 2e-8 |
| GCST009523_62 | Household income | 2e-8 |
| GCST003264_52 | Post bronchodilator FEV1/FVC ratio | 4e-8 |
| GCST005835_7 | Remission after SSRI treatment in MDD or neuroticism | 4e-8 |
| GCST002598_46 | Educational attainment | 3e-7 |
| GCST003262_735 | Post bronchodilator FEV1 | 4e-7 |
| GCST002337_139 | Amyotrophic lateral sclerosis (sporadic) | 2e-6 |
EFO canonical traits (from GWAS)
17 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0005427 | social communication impairment |
| EFO:0004784 | self reported educational attainment |
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0007660 | neuroticism measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0009598 | feeling miserable measurement |
| EFO:0008475 | mood instability measurement |
| EFO:0009595 | guilt measurement |
| EFO:0009589 | worry measurement |
| EFO:0009588 | feeling “fed-up” measurement |
| EFO:0009599 | feeling emotionally hurt measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004337 | intelligence |
| EFO:0009695 | household income |
| EFO:0007828 | daytime rest measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
MeSH disease descriptors
1 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
PharmGKB clinical annotations
1 annotations by evidence level (1 strongest → 4):
| Variant | Association | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs4799915 | Toxicity | 3 | iloperidone | Acquired Long QT Syndrome (aLQTS) |
PharmGKB variants
1 variants:
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4799915 | CELF4 | 3 | 0.00 | 1 | iloperidone |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, increases methylation, affects cotreatment | 6 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| methylmercuric chloride | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation, affects methylation | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Methapyrilene | affects methylation | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 217 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | Phase 4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | Phase 4 | 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 | Phase 3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | Phase 3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | Phase 3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | Phase 3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | Phase 2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | Phase 2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | Phase 2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | Phase 1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | Phase 1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | Phase 1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT03600649 | Phase 1 | UNKNOWN | Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT01783041 | Phase 2/3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | Phase 2/3 | COMPLETED | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | Early Phase 1 | 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 | COMPLETED | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
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| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
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Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder, gastroesophageal reflux disease, myoepithelial tumor, neurodevelopmental disorder, sporadic amyotrophic lateral sclerosis
- Pharmacogenomically associated drugs (drugs whose metabolism/response is associated with variants in this gene (PharmGKB) — not drugs that target it): Iloperidone