RPS10

Summary

RPS10 (ribosomal protein S10, HGNC:10383) is a protein-coding gene on chromosome 6p21.31, encoding Small ribosomal subunit protein eS10 (P46783). Component of the 40S ribosomal subunit. It is a common-essential gene (DepMap: required in 99.5% 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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).

Source: NCBI Gene 6204 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 8
• Clinical variants (ClinVar): 132 total — 2 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 65
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.5% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency emerging evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001014

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10383
Approved symbol	RPS10
Name	ribosomal protein S10
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC88819, S10, eS10
Ensembl gene	ENSG00000124614
Ensembl biotype	protein_coding
OMIM	603632
Entrez	6204

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 29 protein_coding, 1 retained_intron

ENST00000344700, ENST00000464218, ENST00000467531, ENST00000480942, ENST00000494077, ENST00000621356, ENST00000644393, ENST00000644700, ENST00000648437, ENST00000880003, ENST00000880004, ENST00000919454, ENST00000919455, ENST00000919456, ENST00000919457, ENST00000919458, ENST00000919459, ENST00000919460, ENST00000919461, ENST00000919462, ENST00000919463, ENST00000919464, ENST00000919465, ENST00000919466, ENST00000919467, ENST00000919468, ENST00000919469, ENST00000919470, ENST00000919471, ENST00000919472

RefSeq mRNA: 3 — MANE Select: NM_001014 NM_001014, NM_001203245, NM_001204091

CCDS: CCDS4792

Canonical transcript exons

ENST00000648437 — 6 exons

Exon	Start	End
ENSE00003473023	34417454	34417547
ENSE00003474809	34418369	34418424
ENSE00003531744	34424669	34424840
ENSE00003546322	34421730	34421807
ENSE00003757260	34425072	34425221
ENSE00003821574	34426032	34426069

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1027.3281 / max 9719.2958, expressed in 1827 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73242	1027.3281	1827
73241	13.8906	1712

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.93	gold quality
left ovary	UBERON:0002119	99.86	gold quality
right ovary	UBERON:0002118	99.85	gold quality
endocervix	UBERON:0000458	99.84	gold quality
ovary	UBERON:0000992	99.84	gold quality
right uterine tube	UBERON:0001302	99.84	gold quality
fallopian tube	UBERON:0003889	99.84	gold quality
zone of skin	UBERON:0000014	99.83	gold quality
lymph node	UBERON:0000029	99.83	gold quality
skin of abdomen	UBERON:0001416	99.83	gold quality
skin of leg	UBERON:0001511	99.83	gold quality
right testis	UBERON:0004534	99.83	gold quality
body of uterus	UBERON:0009853	99.83	gold quality
ectocervix	UBERON:0012249	99.83	gold quality
granulocyte	CL:0000094	99.82	gold quality
left testis	UBERON:0004533	99.82	gold quality
islet of Langerhans	UBERON:0000006	99.81	gold quality
pituitary gland	UBERON:0000007	99.81	gold quality
vagina	UBERON:0000996	99.81	gold quality
left uterine tube	UBERON:0001303	99.81	gold quality
adenohypophysis	UBERON:0002196	99.81	gold quality
prostate gland	UBERON:0002367	99.81	gold quality
lower esophagus	UBERON:0013473	99.81	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.81	gold quality
fundus of stomach	UBERON:0001160	99.80	gold quality
body of stomach	UBERON:0001161	99.80	gold quality
mucosa of stomach	UBERON:0001199	99.80	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.80	gold quality
right adrenal gland cortex	UBERON:0035827	99.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.80	gold quality

Single-cell (SCXA)

Detected in 44 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-GEOD-89232	yes	3704.48
E-MTAB-8142	yes	174.01
E-CURD-122	yes	88.48
E-CURD-88	yes	64.98
E-MTAB-9221	yes	55.52
E-HCAD-11	yes	49.90
E-CURD-46	yes	48.04
E-CURD-112	yes	29.81
E-HCAD-9	yes	27.59
E-HCAD-13	yes	25.60
E-GEOD-135922	yes	22.04
E-MTAB-10042	yes	16.17
E-MTAB-7316	yes	14.97
E-HCAD-35	yes	8.59
E-HCAD-4	no	5447.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, ZBED1

Functional genomics

ClinGen dosage: haploinsufficiency 2 (emerging evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 99.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
• Mutations in the RPS10 and RPS26 genes in DBA patients affect the function of the proteins in rRNA processing. (PMID:20116044)
• Methylation of ribosomal protein S10 by protein-arginine methyltransferase 5 regulates ribosome biogenesis. (PMID:20159986)
• A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia. (PMID:22510774)
• These results are consistent with a model in which the Nef protein by binding to two components of the 40S small ribosomal subunit, RPS10 and 18S rRNA, and to a lesser extent to tRNAs, could lead to decreased protein synthesis. (PMID:22672539)
• Short 5’UTR mRNAs are enriched with TISU (translation initiator of short 5’UTR), a 12-nucleotide element directing efficient scanning-independent translation. This study demonstrate that TISU is particularly dependent on eukaryotic initiation factor 1A (eIF1A) which interacts with both RPS3 and RPS10e. (PMID:28584194)
• Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations. (PMID:37376976)
• Znf598-mediated Rps10/eS10 ubiquitination contributes to the ribosome ubiquitination dynamics during zebrafish development. (PMID:37751929)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps10	ENSDARG00000034897

Protein

Protein identifiers

Small ribosomal subunit protein eS10 — P46783 (reviewed: P46783)

Alternative names: 40S ribosomal protein S10

All UniProt accessions (5): A0A2R8Y6L3, A0A2R8Y7H1, A0A2R8YFH6, P46783, F6U211

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 40S ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.

Subunit / interactions. Component of the small ribosomal subunit. The methylated form interacts with NPM1.

Subcellular location. Cytoplasm. Nucleus. Nucleolus.

Post-translational modifications. Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation. Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide. Deubiquitinated by OTUD3 and USP21, antagonizing ZNF598 activity. Deubiquitinated by OTUD1, antagonizing ZNF598 activity and stimulating formation of polysomes: deubiquitination by OTUD1 promotes stability and translation of a subset mRNAs with a high abundance of rare codons can limit the translation rate. Deubiquitinated by USP10.

Disease relevance. Diamond-Blackfan anemia 9 (DBA9) [MIM:613308] 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 eS10 family.

RefSeq proteins (3): NP_001005, NP_001190174, NP_001191020 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005326	Plectin_eS10_N	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR037447	Ribosomal_eS10	Family

Pfam: PF03501

UniProt features (23 total): helix 5, modified residue 5, mutagenesis site 3, strand 3, cross-link 2, compositionally biased region 2, chain 1, region of interest 1, turn 1

Structure

Experimental structures (PDB)

200 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8GLP	ELECTRON MICROSCOPY	1.67
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
7R4X	ELECTRON MICROSCOPY	2.15
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8YOP	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
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
9QLO	ELECTRON MICROSCOPY	2.47
9P8B	ELECTRON MICROSCOPY	2.48
7XNY	ELECTRON MICROSCOPY	2.5
8JDJ	ELECTRON MICROSCOPY	2.5
9RUC	ELECTRON MICROSCOPY	2.5
8G60	ELECTRON MICROSCOPY	2.54
8IFE	ELECTRON MICROSCOPY	2.57
9P7D	ELECTRON MICROSCOPY	2.57

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P46783-F1	75.34	0.49

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 (7): 139, 12, 146, 153, 158, 160, 138

Mutagenesis-validated functional residues (3):

Position	Phenotype
138–139	abolishes monoubiquitination by znf598, leading to enhanced readthrough on the poly(a)-stall sequences.
158	weakly methylated. complete loss of methylation; inefficient assembly into ribosomes; instability; increased degradation
160	weakly methylated. complete loss of methylation; inefficient assembly into ribosomes; instability; increased degradation

Function

Pathways and Gene Ontology

Reactome pathways

50 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-72649	Translation initiation complex formation
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72695	Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72702	Ribosomal scanning and start codon recognition
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-9735869	SARS-CoV-1 modulates host translation machinery
R-HSA-9754678	SARS-CoV-2 modulates host translation machinery
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-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
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-156842	Eukaryotic Translation Elongation
R-HSA-1643685	Disease
R-HSA-168255	Influenza Infection
R-HSA-168273	Influenza Viral RNA Transcription and Replication
R-HSA-2262752	Cellular responses to stress
R-HSA-2408522	Selenoamino acid metabolism
R-HSA-376176	Signaling by ROBO receptors
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 370 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GRUETZMANN_PANCREATIC_CANCER_DN, MODULE_151, GNF2_TPT1, ENK_UV_RESPONSE_KERATINOCYTE_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_TRANSLATION, KOYAMA_SEMA3B_TARGETS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DIRMEIER_LMP1_RESPONSE_EARLY, GRASEMANN_RETINOBLASTOMA_WITH_6P_AMPLIFICATION, NRF2_01, MODULE_29

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

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (12): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), synapse (GO:0045202), nucleus (GO:0005634), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cap-dependent Translation Initiation	4
Translation	2
Nonsense-Mediated Decay (NMD)	2
Ribosome-associated quality control	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
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	1
Signaling by ROBO receptors	1
Cellular response to starvation	1
SARS-CoV-1-host interactions	1
SARS-CoV-2-host interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
ribosome	2
nuclear lumen	2
intracellular membraneless organelle	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
binding	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
cytosol	1
small ribosomal subunit	1
cytosolic ribosome	1
cell junction	1
intracellular membrane-bounded organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

3182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPS10	RPS29	P30054	973
RPS10	RPL5	P46777	968
RPS10	RPS5	P46782	967
RPS10	RPS9	P46781	946
RPS10	RPL21	P46778	942
RPS10	RPL27A	P46776	941
RPS10	RPS26	P02383	938
RPS10	RPS19	P39019	938
RPS10	RPL28	P46779	929
RPS10	RPS24	P16632	927
RPS10	RPS17	P08708	926
RPS10	RPL35A	P18077	926
RPS10	RPL11	P25121	886
RPS10	RPS20	P17075	870
RPS10	RPS3	P23396	869

IntAct

404 interactions, top by confidence:

A	B	Type	Score
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DCC	NTN1	psi-mi:“MI:0914”(association)	0.700
RPS3	RPS10	psi-mi:“MI:0915”(physical association)	0.670
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPS12	RPS10	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
NSA2	TYW5	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
MED20	POLR2A	psi-mi:“MI:2364”(proximity)	0.480
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
MAP7D3	RPS10	psi-mi:“MI:0915”(physical association)	0.400
SERBP1	RPS10	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (832): RPS10 (Affinity Capture-MS), RPS10 (Affinity Capture-MS), RPS10 (Affinity Capture-MS), RPS10 (Affinity Capture-MS), RPS10 (Affinity Capture-MS), NRDE2 (Co-fractionation), RPL10 (Co-fractionation), RPL10A (Co-fractionation), RPL11 (Co-fractionation), RPL12 (Co-fractionation), RPL13 (Co-fractionation), RPL13A (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL23 (Co-fractionation)

ESM2 similar proteins: A0A1D8PI15, A2BZH4, A2R692, A6S6V7, A8NV38, A9TND9, B0C8H2, B6HIM5, B6Q2W9, B6TTW1, B9HSR7, B9T3R0, C0NWE3, C4JUN6, C5FMD4, C6HBW5, C6SXE1, C7YTF5, G1T168, O13614, O14112, O77082, O77302, P0DKK8, P0DKK9, P46783, P46784, P58703, P63325, P63326, Q07254, Q08745, Q0UBT2, Q2S9D5, Q3M8R1, Q3T0F4, Q46I00, Q47G40, Q4JJB1, Q4PD40

Diamond homologs: A0A1D8PI15, G1T168, O13614, O14112, O77082, O77302, P0DKK8, P0DKK9, P30427, P46783, P46784, P63325, P63326, Q07254, Q08745, Q15149, Q3T0F4, Q90YR4, Q962R9, Q9FFS8, Q9LTF2, Q9NQ39, Q9QXS1, Q9SW09, Q9VB14, Q9VWG3, A0A8M2BID5, A0A8M9PQ61, A5D7D1, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, E9Q557, F1LMV6, G3V7L1, L7UZ85, M9MRD1, O13728, O15020

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ZBED1	“up-regulates quantity by expression”	RPS10	“transcriptional regulation”
MKRN1	“up-regulates activity”	RPS10	ubiquitination
RPS10	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 201 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
Eukaryotic Translation Initiation	9	21.2×	8e-09
Cap-dependent Translation Initiation	9	21.2×	8e-09
SARS-CoV-1 modulates host translation machinery	9	21.2×	8e-09
Eukaryotic Translation Elongation	9	19.1×	2e-08
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	9	18.7×	2e-08
Formation of the ternary complex, and subsequently, the 43S complex	11	18.1×	7e-10
TRAF6 mediated NF-kB activation	5	17.4×	2e-04
SARS-CoV-2 modulates host translation machinery	10	17.1×	8e-09

GO biological processes:

GO term	Partners	Fold	FDR
non-canonical NF-kappaB signal transduction	5	24.4×	4e-04
cytoplasmic translation	18	19.3×	2e-15
positive regulation of transcription by RNA polymerase I	5	18.7×	9e-04
ribosomal large subunit biogenesis	5	12.8×	5e-03
translational initiation	6	12.4×	1e-03
ribosomal small subunit biogenesis	9	11.8×	2e-05
canonical NF-kappaB signal transduction	5	10.6×	9e-03
translation	16	9.5×	7e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	5
Uncertain significance	53
Likely benign	48
Benign	14

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
6185	NM_001014.5(RPS10):c.3G>A (p.Met1Ile)	Pathogenic
6186	NM_001014.5(RPS10):c.260dup (p.Glu88fs)	Pathogenic
1337957	NM_001014.5(RPS10):c.292dup (p.Arg98fs)	Likely pathogenic
2633296	NM_001014.5(RPS10):c.400+1G>A	Likely pathogenic
3766746	NM_001014.5(RPS10):c.323-1G>A	Likely pathogenic
832699	NC_000006.12:g.(?34417506)(34421817_?)del	Likely pathogenic
834960	NM_001014.5(RPS10):c.401-2A>G	Likely pathogenic

SpliceAI

905 predictions. Top by Δscore:

Variant	Effect	Δscore
6:34417494:T:TA	donor_gain	1.0000
6:34417543:CCTCT:C	acceptor_gain	1.0000
6:34417544:CTCT:C	acceptor_gain	1.0000
6:34417544:CTCTC:C	acceptor_gain	1.0000
6:34417545:TCTCT:T	acceptor_gain	1.0000
6:34417546:CT:C	acceptor_gain	1.0000
6:34417548:C:CC	acceptor_gain	1.0000
6:34418360:GATAC:G	donor_loss	1.0000
6:34418361:ATAC:A	donor_loss	1.0000
6:34418361:ATACT:A	donor_loss	1.0000
6:34418362:TACT:T	donor_loss	1.0000
6:34418363:AC:A	donor_loss	1.0000
6:34418363:ACTC:A	donor_loss	1.0000
6:34418364:C:CA	donor_loss	1.0000
6:34418365:T:TA	donor_loss	1.0000
6:34418365:TCA:T	donor_loss	1.0000
6:34418366:CAC:C	donor_loss	1.0000
6:34418367:A:AC	donor_gain	1.0000
6:34418367:ACAA:A	donor_loss	1.0000
6:34418368:C:CC	donor_gain	1.0000
6:34418368:CA:C	donor_gain	1.0000
6:34418368:CAA:C	donor_gain	1.0000
6:34418368:CAAA:C	donor_gain	1.0000
6:34418420:ACCAG:A	acceptor_gain	1.0000
6:34418421:CCAG:C	acceptor_gain	1.0000
6:34418421:CCAGC:C	acceptor_gain	1.0000
6:34418422:CAG:C	acceptor_gain	1.0000
6:34418422:CAGC:C	acceptor_gain	1.0000
6:34418423:AG:A	acceptor_gain	1.0000
6:34418423:AGCTA:A	acceptor_loss	1.0000

AlphaMissense

1067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:34421747:C:A	R128I	1.000
6:34421747:C:G	R128T	1.000
6:34424713:G:A	T93I	1.000
6:34424719:G:C	P91R	1.000
6:34424719:G:T	P91H	1.000
6:34424720:G:A	P91S	1.000
6:34424720:G:T	P91T	1.000
6:34424737:A:G	L85P	1.000
6:34424737:A:T	L85Q	1.000
6:34424743:A:G	L83P	1.000
6:34424752:C:G	R80P	1.000
6:34424753:G:T	R80S	1.000
6:34424755:A:G	L79P	1.000
6:34424755:A:T	L79H	1.000
6:34424767:C:A	G75V	1.000
6:34424767:C:T	G75D	1.000
6:34424768:C:A	G75C	1.000
6:34424768:C:G	G75R	1.000
6:34424768:C:T	G75S	1.000
6:34424779:A:G	L71P	1.000
6:34424779:A:T	L71H	1.000
6:34424786:A:G	W69R	1.000
6:34424786:A:T	W69R	1.000
6:34424799:C:A	W64C	1.000
6:34424799:C:G	W64C	1.000
6:34424800:C:G	W64S	1.000
6:34424801:A:G	W64R	1.000
6:34424801:A:T	W64R	1.000
6:34424803:G:T	A63D	1.000
6:34424805:A:C	F62L	1.000

dbSNP variants (sampled 300 via entrez): RS1000182002 (6:34425700 C>T), RS1000204367 (6:34423477 G>A), RS1000255583 (6:34425915 C>T), RS1000403477 (6:34420822 C>A,T), RS1000754576 (6:34421057 T>A,C), RS1000854649 (6:34417375 C>T), RS1001182481 (6:34420712 A>C), RS1001631216 (6:34425325 C>T), RS1001741996 (6:34425411 G>A), RS1001925956 (6:34420148 T>G), RS1002186743 (6:34421892 G>A), RS1002240491 (6:34421570 A>G), RS1002530753 (6:34421253 G>A), RS1002633911 (6:34426036 G>A,C), RS1002686338 (6:34425941 C>A)

Disease associations

OMIM: gene MIM:603632 | disease phenotypes: MIM:105650, MIM:613308

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Definitive	Unknown
Diamond-Blackfan anemia 9	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Definitive	AD

Mondo (2): Diamond-Blackfan anemia (MONDO:0015253), Diamond-Blackfan anemia 9 (MONDO:0013216)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

65 total (30 of 65 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

8 associations (top):

Study	Trait	p-value
GCST007294_103	Body fat distribution (trunk fat ratio)	3.000000e-11
GCST007295_123	Body fat distribution (leg fat ratio)	1.000000e-12
GCST007344_99	Estimated glomerular filtration rate	2.000000e-10
GCST007876_50	Estimated glomerular filtration rate	2.000000e-08
GCST010988_359	Adult body size	5.000000e-09
GCST90002386_140	High light scatter reticulocyte percentage of red cells	1.000000e-09
GCST90002388_88	Lymphocyte count	5.000000e-11
GCST90020028_669	Hip circumference adjusted for BMI	1.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004587	lymphocyte count
EFO:0008039	BMI-adjusted hip circumference

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
C567650	Diamond-Blackfan Anemia 9 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6066891 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

52 potent at pChembl≥5 of 56 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.38	Kd	41.98	nM	CHEMBL3752910
7.38	ED50	41.98	nM	CHEMBL3752910
7.37	Kd	42.48	nM	CHEMBL5653589
7.37	ED50	42.48	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
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.29	Kd	511	nM	MOLIBRESIB
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
5.85	IC50	1400	nM	MOLIBRESIB
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

PubChem BioAssay actives

50 with measured affinity, of 216 total; 29 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	2149282: Binding affinity to human RPS10 incubated for 45 mins by Kinobead based pull down assay	kd	0.0420	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149282: Binding affinity to human RPS10 incubated for 45 mins by Kinobead based pull down assay	kd	0.0425	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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179209: Binding affinity against RPS10 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.5110	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	2
Rotenone	decreases expression	2
Particulate Matter	decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	increases expression	1
decabromobiphenyl ether	decreases expression	1
tris(2-butoxyethyl) phosphate	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
cobaltous chloride	increases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	decreases expression	1
N-benzyloxycarbonylprolylprolinal	increases expression	1
CD 437	decreases expression	1
chloropicrin	affects expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Antimycin A	decreases expression	1
Arsenic	affects methylation	1
Caffeine	decreases phosphorylation	1
Cocaine	decreases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Dexamethasone	affects cotreatment, decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Pesticides	decreases methylation	1

ChEMBL screening assays

97 unique, capped per target: 97 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)

38 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
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
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)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
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
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)