RPL15

Summary

RPL15 (ribosomal protein L15, HGNC:10306) is a protein-coding gene on chromosome 3p24.2, encoding Large ribosomal subunit protein eL15 (P61313). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6138 — RefSeq curated summary.

At a glance

• Gene–disease (curated): X-linked syndromic intellectual disability (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 111 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 62
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_002948

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10306
Approved symbol	RPL15
Name	ribosomal protein L15
Location	3p24.2
Locus type	gene with protein product
Status	Approved
Aliases	RPL10, RPLY10, RPYL10, EC45, L15, eL15
Ensembl gene	ENSG00000174748
Ensembl biotype	protein_coding
OMIM	604174
Entrez	6138

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 32 protein_coding, 2 retained_intron

ENST00000307839, ENST00000354811, ENST00000412097, ENST00000413699, ENST00000415719, ENST00000422218, ENST00000434031, ENST00000436146, ENST00000456530, ENST00000465786, ENST00000490223, ENST00000611050, ENST00000643707, ENST00000644185, ENST00000644684, ENST00000645079, ENST00000889023, ENST00000889024, ENST00000889025, ENST00000913519, ENST00000913520, ENST00000913521, ENST00000913522, ENST00000913523, ENST00000913524, ENST00000913525, ENST00000913526, ENST00000913527, ENST00000913528, ENST00000913529, ENST00000913530, ENST00000913531, ENST00000913532, ENST00000913533

RefSeq mRNA: 6 — MANE Select: NM_002948 NM_001253379, NM_001253380, NM_001253382, NM_001253383, NM_001253384, NM_002948

CCDS: CCDS2640, CCDS58818

Canonical transcript exons

ENST00000307839 — 4 exons

Exon	Start	End
ENSE00001162288	23917850	23918031
ENSE00001525948	23917132	23917173
ENSE00003524186	23918440	23918576
ENSE00003903465	23919196	23920989

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 168.1195 / max 791.6159, expressed in 1825 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35724	90.7232	1819
35725	68.6820	1818
35726	8.1794	1721
35727	0.5349	220

Top tissues by expression

303 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	99.86	gold quality
cortical plate	UBERON:0005343	99.86	gold quality
right ovary	UBERON:0002118	99.85	gold quality
left testis	UBERON:0004533	99.85	gold quality
right testis	UBERON:0004534	99.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.84	gold quality
germinal epithelium of ovary	UBERON:0001304	99.84	gold quality
middle temporal gyrus	UBERON:0002771	99.84	gold quality
endocervix	UBERON:0000458	99.83	gold quality
gall bladder	UBERON:0002110	99.83	gold quality
ganglionic eminence	UBERON:0004023	99.83	gold quality
caput epididymis	UBERON:0004358	99.83	gold quality
ovary	UBERON:0000992	99.82	gold quality
body of uterus	UBERON:0009853	99.82	gold quality
stromal cell of endometrium	CL:0002255	99.81	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.81	gold quality
granulocyte	CL:0000094	99.80	gold quality
pituitary gland	UBERON:0000007	99.80	gold quality
adenohypophysis	UBERON:0002196	99.80	gold quality
ventricular zone	UBERON:0003053	99.80	gold quality
ectocervix	UBERON:0012249	99.80	gold quality
lymph node	UBERON:0000029	99.79	gold quality
right uterine tube	UBERON:0001302	99.79	gold quality
skin of abdomen	UBERON:0001416	99.79	gold quality
right coronary artery	UBERON:0001625	99.79	gold quality
descending thoracic aorta	UBERON:0002345	99.79	gold quality
right lobe of thyroid gland	UBERON:0001119	99.78	gold quality
left lobe of thyroid gland	UBERON:0001120	99.78	gold quality
body of stomach	UBERON:0001161	99.78	gold quality
left uterine tube	UBERON:0001303	99.78	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	4145.29
E-CURD-46	yes	78.59
E-CURD-122	yes	75.27
E-CURD-88	yes	63.84
E-MTAB-9221	yes	51.77
E-MTAB-6678	yes	35.94
E-MTAB-9067	yes	33.48
E-CURD-112	yes	21.60
E-MTAB-10042	yes	16.20
E-HCAD-35	yes	8.21
E-GEOD-137537	yes	6.53
E-MTAB-9801	yes	6.29
E-GEOD-124263	no	8397.07
E-HCAD-4	no	7547.36
E-MTAB-10432	no	7079.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting RPL15, 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-186-5P	99.99	70.83	3707
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-4325	99.49	72.20	1342

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 13)

• RPL15 promotes cell proliferation in gastric neoplasms (PMID:16608517)
• RPL15 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma. (PMID:21509594)
• ISG56 interacts with ribosomal protein L15 in gastric cancer cells. (PMID:21612406)
• These data identify RPL15 as a new gene involved in Diamond-Blackfan anemia. (PMID:23812780)
• Downregulation of RPL15 is associated with tumor progression in pancreatic ductal adenocarcinoma. (PMID:26498693)
• Aurora kinase inhibitor danusertib negatively regulated AURKB/p70S6K/RPL15 axis with the involvement of PI3K/Akt/mTOR, AMPK, and p38 MAPK signaling pathways, leading to the induction of apoptosis and autophagy in human leukemia cells. (PMID:27612557)
• This study identifies a novel subgroup of DBA with mutations in the RPL15 gene with an unexpected high rate of hydrops fetalis and spontaneous, long-lasting remission. (PMID:29599205)
• RPL15 is required for maintaining normal nucleolar structure. RPL15 is involved in human colon carcinogenesis.RPL15 is overexpressed in colon cancer. (PMID:31523176)
• Circ-RPL15: a plasma circular RNA as novel oncogenic driver to promote progression of chronic lymphocytic leukemia. (PMID:31611623)
• Identification of Potential Biomarkers for Intervertebral Disc Degeneration Using the Genome-Wide Expression Analysis. (PMID:31904996)
• Overexpressed circ-RPL15 predicts poor survival and promotes the progression of gastric cancer via regulating miR-502-3p/OLFM4/STAT3 pathway. (PMID:32559850)
• Detection of mRNAs of Ribosomal Protein L15 and E-Cadherin in Living Circulating Tumor Cells at Single Cell Resolution To Study Tumor Heterogeneity. (PMID:35856393)
• Decreased expression of RPL15 and RPL18 exacerbated the calcification of valve interstitial cells during aortic valve calcification. (PMID:37431269)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl15	ENSDARG00000009285
mus_musculus	Rpl15	ENSMUSG00000012405
rattus_norvegicus	Rpl15	ENSRNOG00000008140
drosophila_melanogaster	RpL15	FBGN0028697
caenorhabditis_elegans		WBGENE00004427

Protein

Protein identifiers

Large ribosomal subunit protein eL15 — P61313 (reviewed: P61313)

Alternative names: 60S ribosomal protein L15

All UniProt accessions (7): A0A2R8Y738, A0A2R8YEM3, E7ENU7, E7EQV9, E7ERA2, E7EX53, P61313

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.

Subunit / interactions. Component of the large ribosomal subunit. Interacts with IFIT1 (via TPR repeats 1-4).

Subcellular location. Cytoplasm.

Disease relevance. Diamond-Blackfan anemia 12 (DBA12) [MIM:615550] An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic ribosomal protein eL15 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P61313-1	1	yes
P61313-2	2

RefSeq proteins (6): NP_001240308, NP_001240309, NP_001240311, NP_001240312, NP_001240313, NP_002939* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000439	Ribosomal_eL15	Family
IPR012678	Ribosomal_uL23/eL15/eS24_sf	Homologous_superfamily
IPR020925	Ribosomal_eL15_CS	Conserved_site
IPR024794	Rbsml_eL15_core_dom_sf	Homologous_superfamily

Pfam: PF00827

UniProt features (14 total): sequence conflict 4, modified residue 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

192 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
7OW7	ELECTRON MICROSCOPY	2.4
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
8FKV	ELECTRON MICROSCOPY	2.47
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61313-F1	96.27	0.99

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 (5): 34, 97, 100, 2, 83

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA

MSigDB gene sets: 741 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, HORIUCHI_WTAP_TARGETS_DN, WANG_CLIM2_TARGETS_UP, NKX25_02, MODULE_151, GNF2_TPT1, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY

GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)

GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), ribosomal subunit (GO:0044391), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribosome	3
cellular anatomical structure	2
translation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
nucleic acid binding	1
structural molecule activity	1
cell adhesion molecule binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cell junction	1
ribonucleoprotein complex	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

258 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
STAU1	RPLP0	psi-mi:“MI:0914”(association)	0.750
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FAM90A1	KPNA3	psi-mi:“MI:0914”(association)	0.670
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
RPL15	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	RPL15	psi-mi:“MI:0915”(physical association)	0.560
HTT	RPL15	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	RPL15	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530

BioGRID (753): RPL15 (Affinity Capture-MS), RPL15 (Two-hybrid), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS), RPL15 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WNH4, B1NWE8, E2QXF3, G1T0C1, O49224, O82713, P0A5D0, P0CT81, P0CT82, P0CX86, P0CX87, P40590, P47830, P51417, P61313, P61314, P62120, P62121, P62122, P62123, P62124, P62125, P62945, P62946, P62947, P62948, P62949, P78569, P79324, P9WER7, P9WKT4, P9WKT5, Q4R5B2, Q5EAD6, Q5NVE0, Q5RFG9, Q6YLX4, Q71H53, Q75AH3, Q7KF89

Diamond homologs: A2ST55, A3CW58, A3DMU2, A4FZN9, A4YCU5, A6UX54, A6VIT8, A7I9D0, A9A7T0, B0R2U1, B6YSU2, B8D6C6, B9LSV1, C3MQ39, C3MVF7, C3N5Q6, C3NEC2, C3NHD0, C4KHD5, C5A1N3, E2QXF3, G1T0C1, O13418, O17445, O23515, O26786, O27965, O58706, O65050, O65082, O74895, O82528, O82712, P05748, P30736, P41961, P46289, P49403, P51417, P52818

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL15	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 210 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
SRP-dependent cotranslational protein targeting to membrane	23	16.5×	3e-19
Peptide chain elongation	18	16.3×	2e-15
Viral mRNA Translation	18	16.3×	2e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	18	16.1×	3e-15
Selenocysteine synthesis	18	15.5×	4e-15
Eukaryotic Translation Termination	18	15.5×	4e-15
Formation of a pool of free 40S subunits	19	15.2×	2e-15
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	18	15.1×	5e-15

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	21	20.9×	4e-19
stress granule assembly	5	16.2×	2e-03
ribosomal large subunit biogenesis	6	14.3×	9e-04
regulation of signal transduction by p53 class mediator	6	12.3×	1e-03
excitatory postsynaptic potential	5	11.9×	7e-03
intrinsic apoptotic signaling pathway	6	11.6×	2e-03
translation	20	11.1×	1e-12
rRNA processing	14	10.7×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

111 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	42
Likely benign	13
Benign	7

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
3242417	NM_006013.5(RPL10):c.452C>T (p.Ala151Val)	Pathogenic
430612	NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)	Pathogenic
430613	NM_006013.5(RPL10):c.481G>A (p.Gly161Ser)	Pathogenic
430614	NM_006013.5(RPL10):c.191C>T (p.Ala64Val)	Pathogenic
1211088	NM_006013.5(RPL10):c.482G>A (p.Gly161Asp)	Likely pathogenic
3342312	NM_006013.5(RPL10):c.283C>T (p.His95Tyr)	Likely pathogenic
431945	NM_006013.5(RPL10):c.8G>A (p.Arg3His)	Likely pathogenic
4681737	NM_006013.5(RPL10):c.95G>T (p.Arg32Leu)	Likely pathogenic
818225	NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)	Likely pathogenic

SpliceAI

919 predictions. Top by Δscore:

Variant	Effect	Δscore
3:23917089:A:T	donor_gain	1.0000
3:23918027:GCAAG:G	donor_gain	1.0000
3:23918029:AAGG:A	donor_loss	1.0000
3:23918030:AGGT:A	donor_loss	1.0000
3:23918031:GGT:G	donor_loss	1.0000
3:23918032:G:C	donor_loss	1.0000
3:23918435:T:TA	acceptor_gain	1.0000
3:23918438:A:AG	acceptor_gain	1.0000
3:23918438:AG:A	acceptor_gain	1.0000
3:23918439:G:GG	acceptor_gain	1.0000
3:23918439:GG:G	acceptor_gain	1.0000
3:23918439:GGT:G	acceptor_gain	1.0000
3:23918439:GGTT:G	acceptor_gain	1.0000
3:23918439:GGTTA:G	acceptor_gain	1.0000
3:23918541:C:G	donor_gain	1.0000
3:23918573:AGAGG:A	donor_loss	1.0000
3:23918574:GAG:G	donor_gain	1.0000
3:23918574:GAGG:G	donor_loss	1.0000
3:23918575:AGGT:A	donor_loss	1.0000
3:23918577:G:GC	donor_loss	1.0000
3:23918578:T:A	donor_loss	1.0000
3:23918583:GGTTT:G	donor_gain	1.0000
3:23918584:GTTT:G	donor_gain	1.0000
3:23918585:TTTT:T	donor_gain	1.0000
3:23919191:TCTAG:T	acceptor_loss	1.0000
3:23919193:TA:T	acceptor_loss	1.0000
3:23919194:A:AG	acceptor_gain	1.0000
3:23919194:AG:A	acceptor_gain	1.0000
3:23919195:G:GG	acceptor_gain	1.0000
3:23919195:GG:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000387932 (3:23916005 T>C), RS1000436754 (3:23916207 T>C,G), RS1000773421 (3:23914792 T>C), RS1000942407 (3:23922343 A>T), RS1000953830 (3:23922553 A>G), RS1001208500 (3:23921977 A>G), RS1001338945 (3:23917181 G>A,T), RS1001441448 (3:23917023 G>A,T), RS1001951471 (3:23923480 A>C), RS1002341412 (3:23916297 C>G,T), RS1002362948 (3:23923687 A>G), RS1002624626 (3:23920720 T>A,C), RS1003080482 (3:23924996 G>A,C), RS1003220602 (3:23919658 AAGT>A), RS1003642797 (3:23917627 A>G)

Disease associations

OMIM: gene MIM:604174 | disease phenotypes: MIM:300998, MIM:300847

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, X-linked, syndromic, 35	Definitive	X-linked
Diamond-Blackfan anemia 12	Strong	Autosomal dominant
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Supportive	X-linked
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Supportive	X-linked
Diamond-Blackfan anemia	Supportive	Autosomal dominant
autism, susceptibility to, X-linked 5	Limited	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
X-linked syndromic intellectual disability	Definitive	XL

Mondo (7): intellectual disability, X-linked, syndromic, 35 (MONDO:0030908), autism, susceptibility to, X-linked 5 (MONDO:0010449), intellectual disability (MONDO:0001071), Diamond-Blackfan anemia 12 (MONDO:0014245), X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (MONDO:0018569), X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (MONDO:0018724), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002481_10	Acne (severe)	1.000000e-06
GCST005316_103	Intelligence (MTAG)	2.000000e-15
GCST005316_104	Intelligence (MTAG)	1.000000e-11
GCST007044_10	Extremely high intelligence	3.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
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: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067574 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

50 potent at pChembl≥5 of 54 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.23	Kd	59.2	nM	CHEMBL5653589
7.23	ED50	59.2	nM	CHEMBL5653589
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.37	Kd	424.8	nM	CHEMBL3752910
6.37	ED50	424.8	nM	CHEMBL3752910
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

48 with measured affinity, of 209 total; 28 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149246: Binding affinity to human RPL15 incubated for 45 mins by Kinobead based pull down assay	kd	0.0592	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149246: Binding affinity to human RPL15 incubated for 45 mins by Kinobead based pull down assay	kd	0.4248	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid	717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography	ic50	7.4000	uM

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
bisphenol A	affects expression, increases expression	3
sodium arsenite	decreases expression, increases activity	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
uranyl acetate	affects expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
hydroxyhydroquinone	decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	increases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	increases expression	1
chloropicrin	affects expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Rosiglitazone	increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1920845	Binding	Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay	Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

235 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
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
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
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
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
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
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
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)
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
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