RPL10

Summary

RPL10 (ribosomal protein L10, HGNC:10298) is a protein-coding gene on chromosome Xq28, encoding Large ribosomal subunit protein uL16 (P27635). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).

This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6134 — RefSeq curated summary.

At a glance

• Gene–disease (curated): X-linked syndromic intellectual disability (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 18
• Clinical variants (ClinVar): 110 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 103
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
• Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_006013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10298
Approved symbol	RPL10
Name	ribosomal protein L10
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	NOV, QM, DXS648E, DXS648, FLJ23544, L10, uL16
Ensembl gene	ENSG00000147403
Ensembl biotype	protein_coding
OMIM	312173
Entrez	6134

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 19 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000344746, ENST00000369817, ENST00000406022, ENST00000427682, ENST00000428169, ENST00000436473, ENST00000449494, ENST00000451365, ENST00000458500, ENST00000467168, ENST00000479366, ENST00000482732, ENST00000485196, ENST00000489200, ENST00000491035, ENST00000492572, ENST00000890573, ENST00000890574, ENST00000890575, ENST00000890576, ENST00000890577, ENST00000915661, ENST00000915662, ENST00000915663, ENST00000915664, ENST00000948710

RefSeq mRNA: 6 — MANE Select: NM_006013 NM_001256577, NM_001256580, NM_001303624, NM_001303625, NM_001303626, NM_006013

CCDS: CCDS14746

Canonical transcript exons

ENST00000369817 — 7 exons

Exon	Start	End
ENSE00003486527	154398497	154398542
ENSE00003528800	154399338	154399396
ENSE00003642350	154399487	154399594
ENSE00003646941	154400702	154402332
ENSE00003682228	154399803	154399941
ENSE00003682719	154400464	154400626
ENSE00003904057	154398377	154398394

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 99.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 82.7234 / max 1423.5894, expressed in 1815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198149	79.4009	1814
198150	1.4490	868
198146	0.6641	290
209882	0.6241	345
198151	0.5853	347

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endocervix	UBERON:0000458	99.97	gold quality
right ovary	UBERON:0002118	99.97	gold quality
left ovary	UBERON:0002119	99.97	gold quality
ganglionic eminence	UBERON:0004023	99.97	gold quality
cortical plate	UBERON:0005343	99.96	gold quality
granulocyte	CL:0000094	99.95	gold quality
right uterine tube	UBERON:0001302	99.95	gold quality
left uterine tube	UBERON:0001303	99.95	gold quality
ventricular zone	UBERON:0003053	99.95	gold quality
body of uterus	UBERON:0009853	99.95	gold quality
ectocervix	UBERON:0012249	99.95	gold quality
right lobe of thyroid gland	UBERON:0001119	99.94	gold quality
left lobe of thyroid gland	UBERON:0001120	99.94	gold quality
mucosa of stomach	UBERON:0001199	99.94	gold quality
skin of abdomen	UBERON:0001416	99.94	gold quality
gall bladder	UBERON:0002110	99.94	gold quality
right lung	UBERON:0002167	99.94	gold quality
ascending aorta	UBERON:0001496	99.93	gold quality
thoracic aorta	UBERON:0001515	99.93	gold quality
left coronary artery	UBERON:0001626	99.93	gold quality
popliteal artery	UBERON:0002250	99.93	gold quality
descending thoracic aorta	UBERON:0002345	99.93	gold quality
tibial artery	UBERON:0007610	99.93	gold quality
upper lobe of left lung	UBERON:0008952	99.93	gold quality
metanephros cortex	UBERON:0010533	99.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.93	gold quality
monocyte	CL:0000576	99.92	gold quality
stromal cell of endometrium	CL:0002255	99.92	gold quality
rectum	UBERON:0001052	99.92	gold quality
body of pancreas	UBERON:0001150	99.92	gold quality

Single-cell (SCXA)

Detected in 42 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-8410	yes	28968.74
E-MTAB-10042	yes	14113.04
E-CURD-122	yes	11800.30
E-MTAB-11268	yes	7554.69
E-MTAB-6819	yes	3095.36
E-MTAB-9221	yes	57.36
E-MTAB-6678	yes	45.75
E-HCAD-31	yes	32.43
E-MTAB-9067	yes	28.36
E-CURD-112	yes	22.04
E-MTAB-5061	yes	18.99
E-MTAB-7316	yes	17.78
E-MTAB-9543	yes	15.63
E-HCAD-35	yes	10.88
E-ENAD-27	yes	7.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting RPL10, 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-3163	100.00	77.23	8605
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-657	99.48	66.02	848
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-12114	98.70	63.45	730

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 19)

• QM binds to c-yes at the SH3 domain in tumor cell lines (PMID:12138090)
• Reduction of QM protein expression correlates with tumor grade in prostatic adenocarcinoma (PMID:16331298)
• Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism (PMID:16940977)
• Xq28 (QM gene) may be involved in ovary failure. (PMID:17566674)
• A hexagonal crystal of L10CD was obtained by the sitting-drop vapour-diffusion method. The L10CD crystal diffracted to 2.5 A resolution and belongs to space group P3(1)21 or P3(2)21. (PMID:18007048)
• Characteristic interactions among Arg90-Trp171-Arg139 guide the C-terminal part outside of the central fold (PMID:18258260)
• Our results suggest that RPL10 has no major effect on the susceptibility to autism spectrum disorders (PMID:19166581)
• mutation analysis of RPL10 in German patients with autism spectrum disorder (PMID:21567917)
• Mutations affect the ribosomal proteins RPL5 and RPL10 in 12 of 122 (9.8%) pediatric T-cell acute lymphoblastic leukemias, with recurrent alterations of Arg98 in RPL10. (PMID:23263491)
• A mutation within the conserved N-terminal end of RPL10, a protein in close proximity to the peptidyl transferase active site of the 60S ribosomal subunit, causes severe defects in brain formation and function. (PMID:25316788)
• report confirms the implication of RPL10 mutations in neurodevelopmental disorders and extends the associated clinical spectrum from autism to syndromic intellectual disability (PMID:25846674)
• Our results expand the mutational and clinical spectrum of RPL10 identifying a new genetic cause of SED and highlight the emerging role of ribosomal proteins in the pathogenesis of neurodevelopmental disorders. (PMID:26290468)
• Mitochondrial Ribosomal Protein L10 regulates cyclin B1/Cdk1 (cyclin-dependent kinase 1) activity and mitochondrial protein synthesis in mammalian cells (PMID:27726420)
• there are 7 mutations in RPL10 in 344 patients, or a mutation frequency of 2% (PMID:28428269)
• Mutation R98S in the RPL10 gene in cells from patients with T-Cell acute lymphocytic leukemia results in elevated expression of JAK-STAT signaling cascade proteins, hyper-reactivity to cytokine stimulation, and sensitization to JAK-STAT inhibitors. (PMID:28744013)
• A rare de novo mutation K78E is associated with severe syndromic intellectual disability and epilepsy. (PMID:29066376)
• RPL10 R98S mutation is associated with T-cell acute lymphoblastic leukemia. (PMID:29930300)
• The regulation of reactive oxygen species level by mitochondrial RPL10 is one of the major extra-ribosomal functions in pancreatic cancer cells, which could be used as an indicator for the tumorigenesis of pancreatic cancer. (PMID:30172100)
• The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma. (PMID:37280198)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl10	ENSDARG00000025581
mus_musculus	Rpl10	ENSMUSG00000008682
rattus_norvegicus		ENSRNOG00000078045
drosophila_melanogaster	RpL10	FBGN0024733
caenorhabditis_elegans		WBGENE00004421

Paralogs (1): RPL10L (ENSG00000165496)

Protein

Protein identifiers

Large ribosomal subunit protein uL16 — P27635 (reviewed: P27635)

Alternative names: 60S ribosomal protein L10, Laminin receptor homolog, Protein QM, Ribosomal protein L10, Tumor suppressor QM

All UniProt accessions (9): P27635, A6QRI9, B8A6G2, F8W7C6, H7C123, H7C2C5, H7C2U2, X1WI28, X5D2T3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development.

Subunit / interactions. Component of the large ribosomal subunit. Mature ribosomes consist of a small (40S) and a large (60S) subunit. The 40S subunit contains about 33 different proteins and 1 molecule of RNA (18S). The 60S subunit contains about 49 different proteins and 3 molecules of RNA (28S, 5.8S and 5S).

Subcellular location. Cytoplasm.

Post-translational modifications. Citrullinated by PADI4. Ufmylated by UFL1.

Disease relevance. Autism, X-linked 5 (AUTSX5) [MIM:300847] A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. Disease susceptibility is associated with variants affecting the gene represented in this entry. RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms. Intellectual developmental disorder, X-linked, syndromic 35 (MRXS35) [MIM:300998] A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the universal ribosomal protein uL16 family.

RefSeq proteins (6): NP_001243506, NP_001243509, NP_001290553, NP_001290554, NP_001290555, NP_006004* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001197	Ribosomal_uL16_euk_arch	Family
IPR016180	Ribosomal_uL16_dom	Domain
IPR018255	Ribosomal_uL16_CS_euk_arc	Conserved_site
IPR036920	Ribosomal_uL16_sf	Homologous_superfamily
IPR047873	Ribosomal_uL16	Family

Pfam: PF00252

UniProt features (25 total): strand 7, sequence variant 6, helix 4, sequence conflict 2, cross-link 2, initiator methionine 1, chain 1, turn 1, modified residue 1

Structure

Experimental structures (PDB)

43 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8G5Y	ELECTRON MICROSCOPY	2.29
9RPV	ELECTRON MICROSCOPY	2.35
8K2C	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8FLE	ELECTRON MICROSCOPY	2.48
2PA2	X-RAY DIFFRACTION	2.5
9RUC	ELECTRON MICROSCOPY	2.5
8G60	ELECTRON MICROSCOPY	2.54
8FLD	ELECTRON MICROSCOPY	2.58
9GMO	ELECTRON MICROSCOPY	2.59
8G5Z	ELECTRON MICROSCOPY	2.64
8FLF	ELECTRON MICROSCOPY	2.65
7F5S	ELECTRON MICROSCOPY	2.72
8G6J	ELECTRON MICROSCOPY	2.8
9RUA	ELECTRON MICROSCOPY	2.9
8G61	ELECTRON MICROSCOPY	2.94
9RU9	ELECTRON MICROSCOPY	2.97
22TU	ELECTRON MICROSCOPY	3
8XSY	ELECTRON MICROSCOPY	3
9RU7	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P27635-F1	94.68	0.88

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 (3): 32, 175, 188

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: 480 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, WANG_CLIM2_TARGETS_UP, NKX25_02, MODULE_151, GNF2_TPT1, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MODULE_195, GOBP_MUSCLE_CONTRACTION, WCTCNATGGY_UNKNOWN

GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), cytoplasmic translation (GO:0002181), translation (GO:0006412), intracellular signal transduction (GO:0035556), embryonic brain development (GO:1990403), regulation of translation (GO:0006417), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), translation regulator activity (GO:0045182), protein binding (GO:0005515)

GO Cellular Component (11): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), smooth endoplasmic reticulum (GO:0005790), ribosome (GO:0005840), 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
cellular anatomical structure	3
translation	2
intracellular anatomical structure	2
ribosome	2
intracellular membrane-bounded organelle	2
cytoplasm	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	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
signal transduction	1
embryonic organ development	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
nucleic acid binding	1
structural molecule activity	1
molecular_function	1
regulation of translation	1
binding	1
endomembrane system	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cellular_component	1
endoplasmic reticulum	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

4267 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL10	NMD3	Q96D46	737
RPL10	L1CAM	P32004	716
RPL10	RPL7A	P11518	649
RPL10	RPL12	P30050	642
RPL10	EIF5B	O60841	584
RPL10	RPL9	P32969	557
RPL10	RPL5	P46777	522
RPL10	RPL11	P25121	520
RPL10	RPL23	P23131	507
RPL10	JUN	P05412	505
RPL10	RPS3	P23396	502
RPL10	RPL6	Q02878	498
RPL10	RPLP0	P05388	495
RPL10	RPL3	P39023	489
RPL10	RPL4	P36578	480

IntAct

182 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
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
SRC	RPL10	psi-mi:“MI:0915”(physical association)	0.590
RPL10	SRC	psi-mi:“MI:0915”(physical association)	0.590
RPL10	ATXN1	psi-mi:“MI:0915”(physical association)	0.560
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
RPL13	RPLP1	psi-mi:“MI:0914”(association)	0.530
CBX6	RPS3	psi-mi:“MI:0914”(association)	0.530
EBNA-LP	HAX1	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (1036): RPL10 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation), RPL10 (Co-fractionation)

ESM2 similar proteins: A2YDY2, A5PK63, A8D8X1, A9CB60, B7NZQ2, G1SGX4, G1TG89, G1TU13, P02362, P04644, P05388, P08636, P08708, P14131, P14869, P19945, P27635, P42794, P42795, P46287, P50894, P62084, P62244, P62245, P62246, P62249, P62250, P63273, P63274, P63275, P63276, P86048, Q0DK10, Q29195, Q29201, Q2TBW8, Q3T0X6, Q4R7Y2, Q5R931, Q5R938

Diamond homologs: A1RT11, A1RXM2, A2BNA6, A2SQE9, A2Y0T4, A2ZCQ7, A3CTT1, A3DM76, A3MXP3, A4FWP5, A4WN05, A4YHV3, A6KYI8, A6USY4, A6VGM6, A8D8X1, A8MDE4, A9AA25, A9CB60, B0R2M5, B1LWT3, B1YDH6, B2RLY5, B6YSL0, B7NZQ2, B8GH15, B9LQR1, C3MRC8, C3MXL7, C3MZG3, C3N7I5, C3NFZ1, C4KIP3, C4XLY0, C5A293, C6A4T2, O22431, O27191, O28930, O58367

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
RPL10	down-regulates	JUN	binding
RPL10	down-regulates	YES1	binding
PRKCA	unknown	RPL10
PRKCA	unknown	RPL10	phosphorylation
RPL10	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 180 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	20	16.0×	4e-16
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	16	15.1×	9e-13
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	19	14.8×	8e-15
Eukaryotic Translation Termination	15	14.4×	1e-11
Peptide chain elongation	14	14.2×	5e-11
Viral mRNA Translation	14	14.2×	5e-11
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	14	14.1×	6e-11
GTP hydrolysis and joining of the 60S ribosomal subunit	17	13.6×	9e-13

GO biological processes:

GO term	Partners	Fold	FDR
stress granule assembly	6	23.8×	4e-05
cytoplasmic translation	17	20.7×	5e-15
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	5	15.4×	2e-03
mRNA stabilization	6	14.5×	5e-04
negative regulation of translation	11	14.2×	1e-07
translational initiation	5	11.8×	5e-03
translation	15	10.1×	1e-08
rRNA processing	9	8.4×	2e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — NHL, PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	41
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

1976 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154398390:GTGTG:G	donor_gain	1.0000
X:154398399:G:GG	donor_gain	1.0000
X:154398495:A:AG	acceptor_gain	1.0000
X:154398496:G:GA	acceptor_gain	1.0000
X:154398539:GTTG:G	donor_gain	1.0000
X:154398541:TGG:T	donor_loss	1.0000
X:154398543:G:GA	donor_loss	1.0000
X:154398543:G:GG	donor_gain	1.0000
X:154398544:T:A	donor_loss	1.0000
X:154399326:A:AG	acceptor_gain	1.0000
X:154399327:C:G	acceptor_gain	1.0000
X:154399333:T:TA	acceptor_gain	1.0000
X:154399333:TGCA:T	acceptor_loss	1.0000
X:154399334:GCAGT:G	acceptor_loss	1.0000
X:154399335:CAGT:C	acceptor_loss	1.0000
X:154399336:A:AG	acceptor_gain	1.0000
X:154399336:A:C	acceptor_loss	1.0000
X:154399337:G:GG	acceptor_gain	1.0000
X:154399337:GT:G	acceptor_gain	1.0000
X:154399337:GTT:G	acceptor_gain	1.0000
X:154399337:GTTA:G	acceptor_gain	1.0000
X:154399337:GTTAC:G	acceptor_gain	1.0000
X:154399396:GGT:G	donor_loss	1.0000
X:154399397:G:GG	donor_gain	1.0000
X:154399397:G:T	donor_loss	1.0000
X:154399398:TAA:T	donor_loss	1.0000
X:154399485:A:AG	acceptor_gain	1.0000
X:154399486:G:GG	acceptor_gain	1.0000
X:154399591:GAAG:G	donor_gain	1.0000
X:154399592:AAGGT:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000824671 (X:154401348 A>G,T), RS1001003428 (X:154396573 C>G,T), RS1002093841 (X:154399421 C>G,T), RS1002525243 (X:154397420 C>T), RS1002557827 (X:154397192 C>T), RS1003533773 (X:154398667 C>A,T), RS1004376538 (X:154398537 C>T), RS1004428870 (X:154398685 C>A,T), RS1005227439 (X:154402336 C>A,G), RS1006097175 (X:154397485 A>T), RS1006457257 (X:154397212 C>G), RS1006697974 (X:154401272 C>T), RS1008566077 (X:154399025 C>T), RS1009281110 (X:154399766 C>T), RS1010700600 (X:154401556 C>G)

Disease associations

OMIM: gene MIM:312173 | disease phenotypes: MIM:300998, MIM:300847

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, X-linked, syndromic, 35	Definitive	X-linked
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Supportive	X-linked
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Supportive	X-linked
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 (5): intellectual disability, X-linked, syndromic, 35 (MONDO:0030908), autism, susceptibility to, X-linked 5 (MONDO:0010449), intellectual disability (MONDO:0001071), X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (MONDO:0018569), X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (MONDO:0018724)

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

HPO phenotypes

103 total (30 of 103 shown, HPO-id order):

HPO	Term
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000160	Narrow mouth
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000308	Microretrognathia
HP:0000319	Smooth philtrum
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000431	Wide nasal bridge
HP:0000510	Rod-cone dystrophy
HP:0000540	Hypermetropia
HP:0000545	Myopia
HP:0000577	Exotropia
HP:0000678	Dental crowding
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0000823	Delayed puberty
HP:0000939	Osteoporosis

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST001235_4	Blood pressure	4.000000e-09
GCST004775_28	Pulse pressure	2.000000e-08
GCST006168_57	Pulse pressure x alcohol consumption interaction (2df test)	1.000000e-39
GCST006171_13	Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)	1.000000e-15
GCST006171_4	Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)	4.000000e-17
GCST006434_18	Systolic blood pressure x alcohol consumption interaction (2df test)	9.000000e-10
GCST006479_125	Diverticular disease	2.000000e-10
GCST006585_1382	Blood protein levels	1.000000e-16
GCST007094_27	Diastolic blood pressure	9.000000e-14
GCST007096_93	Pulse pressure	3.000000e-38
GCST007097_128	Pulse pressure	3.000000e-12
GCST007097_129	Pulse pressure	8.000000e-13
GCST007098_90	Diastolic blood pressure	3.000000e-07
GCST007098_91	Diastolic blood pressure	4.000000e-07
GCST007099_79	Systolic blood pressure	3.000000e-06
GCST007268_36	Diastolic blood pressure	2.000000e-29
GCST007269_225	Pulse pressure	5.000000e-55
GCST008839_288	Height	3.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0004329	alcohol drinking
EFO:0006335	systolic blood pressure
EFO:0009959	diverticular disease
EFO:0006336	diastolic blood pressure

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: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6066928 (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
7.12	Kd	76.75	nM	CHEMBL3752910
7.12	ED50	76.75	nM	CHEMBL3752910
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
6.35	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
5.24	Kd	5785	nM	CHEMBL5653589
5.24	ED50	5785	nM	CHEMBL5653589
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149239: Binding affinity to human RPL10 incubated for 45 mins by Kinobead based pull down assay	kd	0.0767	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
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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149239: Binding affinity to human RPL10 incubated for 45 mins by Kinobead based pull down assay	kd	5.7854	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
potassium chromate(VI)	increases expression, decreases expression, affects cotreatment	2
methacrylaldehyde	increases abundance, affects cotreatment, increases expression, increases oxidation	2
Acrolein	affects cotreatment, increases expression, increases oxidation, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Ozone	affects cotreatment, increases expression, increases oxidation, increases abundance	2
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases oxidation, increases abundance, affects cotreatment	1
titanium dioxide	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
3,3’-diindolylmethane	decreases reaction, increases expression, increases reaction	1
tetrabromobisphenol A	decreases expression	1
nickel sulfate	decreases expression	1
artenimol	affects binding	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
chromium hexavalent ion	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
CD 437	decreases expression	1
K 7174	increases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	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)

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
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