RPS20

Summary

RPS20 (ribosomal protein S20, HGNC:10405) is a protein-coding gene on chromosome 8q12.1, encoding Small ribosomal subunit protein uS10 (P60866). Component of the small 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 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 S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene.

Source: NCBI Gene 6224 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial colorectal cancer (Moderate, GenCC) — +4 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 363 total — 4 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 112
• 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_001023

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10405
Approved symbol	RPS20
Name	ribosomal protein S20
Location	8q12.1
Locus type	gene with protein product
Status	Approved
Aliases	S20, uS10
Ensembl gene	ENSG00000008988
Ensembl biotype	protein_coding
OMIM	603682
Entrez	6224

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 14 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000009589, ENST00000518875, ENST00000519369, ENST00000519606, ENST00000519807, ENST00000520490, ENST00000520627, ENST00000521262, ENST00000521289, ENST00000523936, ENST00000524349, ENST00000618656, ENST00000676461, ENST00000676918, ENST00000678039, ENST00000678683, ENST00000921826, ENST00000921827, ENST00000921828, ENST00000921829, ENST00000921830

RefSeq mRNA: 2 — MANE Select: NM_001023 NM_001023, NM_001146227

CCDS: CCDS55231, CCDS6163

Canonical transcript exons

ENST00000009589 — 4 exons

Exon	Start	End
ENSE00000980340	56074060	56074159
ENSE00003489473	56073695	56073768
ENSE00003527277	56074381	56074506
ENSE00003603053	56073054	56073272

Expression profiles

Bgee: expression breadth ubiquitous, 311 present calls, max score 99.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 872.1538 / max 10089.5557, expressed in 1828 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93134	565.7110	1828
93132	281.0884	1825
93133	24.1255	1808
93131	1.2098	617
205185	0.0190	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.95	gold quality
left ovary	UBERON:0002119	99.94	gold quality
lymph node	UBERON:0000029	99.93	gold quality
mucosa of stomach	UBERON:0001199	99.93	gold quality
right uterine tube	UBERON:0001302	99.93	gold quality
right ovary	UBERON:0002118	99.93	gold quality
peritoneum	UBERON:0002358	99.93	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.93	gold quality
omental fat pad	UBERON:0010414	99.93	gold quality
endocervix	UBERON:0000458	99.92	gold quality
cartilage tissue	UBERON:0002418	99.92	gold quality
calcaneal tendon	UBERON:0003701	99.92	gold quality
ganglionic eminence	UBERON:0004023	99.92	gold quality
left testis	UBERON:0004533	99.92	gold quality
right testis	UBERON:0004534	99.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.91	gold quality
skin of abdomen	UBERON:0001416	99.91	gold quality
right lung	UBERON:0002167	99.91	gold quality
metanephros cortex	UBERON:0010533	99.91	gold quality
ovary	UBERON:0000992	99.90	gold quality
vagina	UBERON:0000996	99.90	gold quality
mammalian vulva	UBERON:0000997	99.90	gold quality
mucosa of urinary bladder	UBERON:0001259	99.90	gold quality
skin of leg	UBERON:0001511	99.90	gold quality
adenohypophysis	UBERON:0002196	99.90	gold quality
ventricular zone	UBERON:0003053	99.90	gold quality
upper lobe of lung	UBERON:0008948	99.90	gold quality
upper lobe of left lung	UBERON:0008952	99.90	gold quality
body of uterus	UBERON:0009853	99.90	gold quality

Single-cell (SCXA)

Detected in 32 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	3755.92
E-MTAB-9221	yes	3070.20
E-CURD-88	yes	60.91
E-CURD-112	yes	39.64
E-MTAB-6678	yes	36.95
E-HCAD-9	yes	28.43
E-GEOD-135922	yes	10.19
E-HCAD-35	yes	8.63
E-MTAB-10042	yes	5.53
E-MTAB-8495	no	5389.21
E-CURD-46	no	5237.69
E-MTAB-9467	no	4832.05
E-MTAB-8559	no	3976.49
E-CURD-79	no	3919.55
E-MTAB-10283	no	3635.20

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

28 targeting RPS20, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548D-3P	99.87	70.67	4362
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-12117	99.50	67.57	868
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-7852-3P	98.37	67.98	823
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-3184-3P	96.96	66.91	845
HSA-MIR-5591-3P	96.23	67.03	489
HSA-MIR-6777-3P	95.35	64.30	699

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 11)

• Gain of 8q-mapped RPS20 is associated with adverse outcome in Medulloblastoma. (PMID:16968546)
• RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network but employ different mechanisms to do so. (PMID:23874713)
• Mutations in RPS20 can predispose individuals to microsatellite-stable hereditary nonpolyposis colorectal carcinoma. (PMID:24941021)
• increased expression of RPS11 and RPS20 predicts shorter patient survival. treatment-resistant GSC clones are clinically relevant cells that represent resistant tumorigenic clones from patient tumors and that their properties (PMID:26506620)
• We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC. (PMID:27713038)
• cross-talk between GNL1 and RPS20 is critical to promote cell proliferation. (PMID:30061673)
• A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. (PMID:32424863)
• Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. (PMID:32790018)
• Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma. (PMID:36484407)
• Prospective study: expression levels of microRNA-7-3p and its target STAT3 in head and neck cancer. (PMID:37326506)
• Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs. (PMID:38290548)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rps20	ENSMUSG00000028234
rattus_norvegicus	Rps20-ps10	ENSRNOG00000029627
rattus_norvegicus		ENSRNOG00000078869
drosophila_melanogaster	RpS20	FBGN0019936
caenorhabditis_elegans	rps-20	WBGENE00004489

Protein

Protein identifiers

Small ribosomal subunit protein uS10 — P60866 (reviewed: P60866)

Alternative names: 40S ribosomal protein S20

All UniProt accessions (5): P60866, A0A7P0S5H5, E5RIP1, E5RJX2, G3XAN0

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Component of the 40S small ribosomal subunit.

Subcellular location. Cytoplasm.

Post-translational modifications. Polyubiquitinated by ZNF598 via ‘Lys-63’-linked ubiquitin chains when a ribosome has stalled, initiating the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide. Deubiquitinated by OTUD3 and USP21, antagonizing ZNF598 activity. Ufmylated by UFL1.

Similarity. Belongs to the universal ribosomal protein uS10 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P60866-1	1	yes
P60866-2	2

RefSeq proteins (2): NP_001014, NP_001139699 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001848	Ribosomal_uS10	Family
IPR005729	Ribosomal_uS10_euk/arc	Family
IPR018268	Ribosomal_uS10_CS	Conserved_site
IPR027486	Ribosomal_uS10_dom	Domain
IPR036838	Ribosomal_uS10_dom_sf	Homologous_superfamily

Pfam: PF00338

UniProt features (22 total): strand 6, modified residue 6, mutagenesis site 2, helix 2, cross-link 2, initiator methionine 1, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

199 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-P60866-F1	85.86	0.55

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 (8): 2, 8, 9, 34, 75, 93, 4, 8

Mutagenesis-validated functional residues (2):

Position	Phenotype
4	enhanced readthrough on the poly(a)-stall sequences; when associated with r-8.
8	enhanced readthrough on the poly(a)-stall sequences; when associated with r-4.

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: 484 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CYTOPLASMIC_TRANSLATION, AP1_01, YAGI_AML_WITH_INV_16_TRANSLOCATION, E2F4DP1_01, MODULE_151, GNF2_TPT1, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, PATIL_LIVER_CANCER, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, E2F1DP1_01, E2F1DP2_01, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME

GO Biological Process (4): cytoplasmic translation (GO:0002181), translation (GO:0006412), positive regulation of signal transduction by p53 class mediator (GO:1901798), RNA processing (GO:0006396)

GO Molecular Function (5): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), MDM2/MDM4 family protein binding (GO:0097371), ubiquitin ligase inhibitor activity (GO:1990948), protein binding (GO:0005515)

GO Cellular Component (12): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), synapse (GO:0045202), extracellular exosome (GO:0070062), nucleolus (GO:0005730), ribosome (GO:0005840), small ribosomal subunit (GO:0015935), 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
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1
positive regulation of intracellular signal transduction	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
nucleic acid binding	1
structural molecule activity	1
protein binding	1
ubiquitin-protein transferase inhibitor activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cytosol	1
small ribosomal subunit	1
cytosolic ribosome	1
cell junction	1
extracellular vesicle	1
ribosomal subunit	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

238 interactions, top by confidence:

A	B	Type	Score
MAPK14	RPS6KA4	psi-mi:“MI:0914”(association)	0.870
RPS6	RPL4	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
RPL4	RPS20	psi-mi:“MI:0915”(physical association)	0.620
RPL4	RPS20	psi-mi:“MI:0914”(association)	0.620
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPL4	RPL5	psi-mi:“MI:0914”(association)	0.530
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
ABCE1	EIF3H	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPS20	ORF9b	psi-mi:“MI:0915”(physical association)	0.510
RPS20	HMGB1	psi-mi:“MI:0915”(physical association)	0.480
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (798): RPS20 (Affinity Capture-MS), EEFSEC (Co-fractionation), HBS1L (Co-fractionation), MAP4 (Co-fractionation), MRPL1 (Co-fractionation), RPL10 (Co-fractionation), RPL10A (Co-fractionation), RPL11 (Co-fractionation), RPL13 (Co-fractionation), RPL13A (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL17 (Co-fractionation), RPL18 (Co-fractionation), RPL18A (Co-fractionation)

ESM2 similar proteins: A0B7D7, A0RUM5, A1BJ35, A1XQU9, A2STE9, A3CTG2, A3MT22, A4FWE8, A4SCQ8, A5ULM4, A6UV42, A9A3J7, B3EH92, B3EP62, B3QR66, B4SBU6, B6YVG1, B8GIQ4, C5A5P5, G1SIZ2, O29324, O74893, P14039, P17199, P23403, P28079, P35686, P38701, P49200, P54029, P55828, P60866, P60867, P60868, P61929, P61930, Q12WT4, Q3B6G2, Q3ZBH8, Q464Z5

Diamond homologs: A0B7D7, A0LRL9, A0RUM5, A1RRA0, A1XQU9, A2BN42, A2STE9, A3CTG2, A3MT22, A4FWE8, A4J110, A4WJK0, A4YCR7, A5CUB4, A5D5I9, A5ULM4, A5VLK6, A6UV42, A6VGV7, A6W5T7, A7I655, A8LC57, A9A3J7, A9A9U2, B0R8C2, B0RB38, B0TC55, B1L712, B1W408, B1YB34, B2A4D8, B2G8X9, B2GDX0, B6YVG1, B8G1W5, B8GIQ4, B9LRD9, C3MRL0, C3MYA6, C3MZN5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS20	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 209 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	10	19.5×	2e-09
Cap-dependent Translation Initiation	10	19.5×	2e-09
SARS-CoV-1 modulates host translation machinery	10	19.5×	2e-09
Formation of the ternary complex, and subsequently, the 43S complex	14	19.1×	4e-13
Ribosomal scanning and start codon recognition	15	18.1×	1e-13
Eukaryotic Translation Elongation	10	17.6×	4e-09
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	10	17.2×	6e-09
Translation initiation complex formation	14	16.9×	2e-12

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	5	30.2×	9e-05
cytoplasmic translation	22	21.9×	1e-20
translational initiation	9	17.4×	8e-07
stress granule assembly	5	16.2×	1e-03
translation	23	12.7×	3e-16
regulation of translational initiation	5	12.6×	4e-03
intrinsic apoptotic signaling pathway	6	11.6×	1e-03
negative regulation of translation	10	10.5×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	143
Likely benign	170
Benign	26

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
3232367	NM_001023.4(RPS20):c.143_144del (p.Leu48fs)	Pathogenic
3315292	NM_001023.4(RPS20):c.136_140del (p.Lys46fs)	Pathogenic
981187	NM_001023.4(RPS20):c.251T>G (p.Ile84Ser)	Pathogenic
981188	NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)	Pathogenic
2563000	NM_001023.4(RPS20):c.32_33del (p.Val11fs)	Likely pathogenic
3899323	NM_001023.4(RPS20):c.178-2A>C	Likely pathogenic
3947629	NM_001023.4(RPS20):c.3+1G>A	Likely pathogenic

SpliceAI

348 predictions. Top by Δscore:

Variant	Effect	Δscore
8:56073690:TTTA:T	donor_loss	1.0000
8:56073691:TTA:T	donor_loss	1.0000
8:56073692:TAC:T	donor_loss	1.0000
8:56073694:C:CG	donor_loss	1.0000
8:56073765:CACA:C	acceptor_gain	1.0000
8:56073766:ACA:A	acceptor_gain	1.0000
8:56073767:CA:C	acceptor_gain	1.0000
8:56073767:CAC:C	acceptor_gain	1.0000
8:56073769:C:CC	acceptor_gain	1.0000
8:56074058:AC:A	donor_gain	1.0000
8:56074059:CC:C	donor_gain	1.0000
8:56074402:T:TA	donor_gain	1.0000
8:56073268:AAAGT:A	acceptor_gain	0.9900
8:56073269:AAGT:A	acceptor_gain	0.9900
8:56073270:AGT:A	acceptor_gain	0.9900
8:56073271:GT:G	acceptor_gain	0.9900
8:56073272:TCTG:T	acceptor_loss	0.9900
8:56073273:C:CC	acceptor_gain	0.9900
8:56073273:C:CG	acceptor_loss	0.9900
8:56073764:ACACA:A	acceptor_gain	0.9900
8:56073765:CACAC:C	acceptor_gain	0.9900
8:56073768:AC:A	acceptor_loss	0.9900
8:56073769:CTA:C	acceptor_loss	0.9900
8:56073770:T:C	acceptor_loss	0.9900
8:56074057:GAC:G	donor_loss	0.9900
8:56074058:A:AC	donor_gain	0.9900
8:56074059:C:CC	donor_gain	0.9900
8:56074079:G:C	donor_gain	0.9900
8:56074174:A:C	acceptor_gain	0.9900
8:56074315:CGAA:C	donor_gain	0.9900

AlphaMissense

771 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:56073121:A:T	V110D	1.000
8:56073148:A:C	I101S	1.000
8:56073148:A:T	I101N	1.000
8:56073157:A:T	V98D	1.000
8:56073184:A:T	I89N	1.000
8:56073187:A:G	L88P	1.000
8:56073192:C:A	K86N	1.000
8:56073192:C:G	K86N	1.000
8:56073197:G:C	H85D	1.000
8:56073219:C:A	W77C	1.000
8:56073219:C:G	W77C	1.000
8:56073220:C:A	W77L	1.000
8:56073220:C:G	W77S	1.000
8:56073221:A:G	W77R	1.000
8:56073221:A:T	W77R	1.000
8:56073232:C:A	G73V	1.000
8:56073232:C:T	G73D	1.000
8:56073233:C:A	G73C	1.000
8:56073233:C:G	G73R	1.000
8:56073233:C:T	G73S	1.000
8:56073238:C:A	G71V	1.000
8:56073238:C:T	G71D	1.000
8:56073239:C:G	G71R	1.000
8:56073249:T:A	K67N	1.000
8:56073249:T:G	K67N	1.000
8:56073252:T:A	R66S	1.000
8:56073252:T:G	R66S	1.000
8:56073253:C:G	R66T	1.000
8:56073717:C:A	G52V	1.000
8:56073717:C:T	G52E	1.000

dbSNP variants (sampled 300 via entrez): RS1000023575 (8:56071777 G>A,C), RS1000287653 (8:56073500 A>C), RS1000722790 (8:56070128 G>C), RS1000847207 (8:56066875 T>G), RS1000882533 (8:56074469 A>C,G,T), RS1001310441 (8:56067153 G>T), RS1001380708 (8:56067642 C>T), RS1001562312 (8:56072338 G>C), RS1001993103 (8:56072152 G>A), RS1002033823 (8:56069829 A>G), RS1002347237 (8:56068037 GTCTGAAATTTGCTT>G), RS1002470886 (8:56069594 C>G,T), RS1003344377 (8:56076101 G>A,T), RS1003535843 (8:56072647 A>G), RS1003746809 (8:56068672 AT>A,ATT)

Disease associations

OMIM: gene MIM:603682 | disease phenotypes: MIM:120435, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Moderate	Autosomal dominant
familial colorectal cancer	Moderate	Autosomal dominant
familial colorectal cancer type X	Supportive	Autosomal dominant
hereditary nonpolyposis colon cancer	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Lynch syndrome	Limited	AD

Mondo (6): hereditary nonpolyposis colon cancer (MONDO:0018630), hereditary neoplastic syndrome (MONDO:0015356), Diamond-Blackfan anemia (MONDO:0015253), familial colorectal cancer type X (MONDO:0018604), Lynch syndrome (MONDO:0005835), familial colorectal cancer (MONDO:0023113)

Orphanet (5): Hereditary nonpolyposis colon cancer (Orphanet:443909), Inherited cancer-predisposing syndrome (Orphanet:140162), Diamond-Blackfan anemia (Orphanet:124), Familial colorectal cancer Type X (Orphanet:440437), Lynch syndrome (Orphanet:144)

HPO phenotypes

112 total (30 of 112 shown, HPO-id order):

HPO	Term
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:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000737	Irritability
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001123	Visual field defect
HP:0001199	Triphalangeal thumb

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000175_46	Height	7.000000e-08
GCST005752_119	Systemic lupus erythematosus	4.000000e-08
GCST010002_300	Refractive error	1.000000e-19

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
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067534 (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
6.52	IC50	300	nM	CHEMBL4109308
6.43	Kd	371	nM	CHEMBL3752910
6.43	ED50	371	nM	CHEMBL3752910
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
5.44	Kd	3627	nM	CHEMBL5653589
5.44	ED50	3627	nM	CHEMBL5653589
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
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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149294: Binding affinity to human RPS20 incubated for 45 mins by Kinobead based pull down assay	kd	0.3710	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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149294: Binding affinity to human RPS20 incubated for 45 mins by Kinobead based pull down assay	kd	3.6269	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	3
Particulate Matter	decreases expression, increases expression	3
sodium arsenite	increases activity, decreases expression	2
Caffeine	decreases expression, decreases phosphorylation	2
Estradiol	decreases expression, affects cotreatment	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
2,4,6-tribromophenol	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	decreases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
brequinar	decreases expression	1
arsenic trichloride	decreases expression, increases abundance	1
chromium hexavalent ion	increases expression	1
azoxystrobin	increases expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
bisphenol S	increases expression	1
1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one	decreases reaction, increases reaction, decreases expression, affects binding	1
LDN 193189	decreases expression, affects cotreatment	1
picoxystrobin	increases expression	1
Amino Acids	decreases expression, increases reaction	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)

176 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
NCT00566644	PHASE3	TERMINATED	Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome
NCT02000089	PHASE3	RECRUITING	The Cancer of the Pancreas Screening-5 CAPS5)Study
NCT02813824	PHASE3	ACTIVE_NOT_RECRUITING	Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome
NCT02912559	PHASE3	ACTIVE_NOT_RECRUITING	Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
NCT04711434	PHASE3	UNKNOWN	PD-1 Antibody for The Prevention of Adenomatous Polyps and Second Primary Tumors in Lynch Syndrome Patients
NCT07609901	PHASE3	NOT_YET_RECRUITING	Preventive Dendritic Cell Vaccination for Lynch Syndrome Carriers
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)
NCT03631641	PHASE2	TERMINATED	Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy
NCT03831698	PHASE2	UNKNOWN	Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE)
NCT04920149	PHASE2	RECRUITING	Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome
NCT05411718	PHASE2	RECRUITING	A Phase IIa Randomized, Double-Blinded Clinical Trial of Naproxen or Aspirin for Cancer Immune Interception in Lynch Syndrome
NCT05419011	PHASE2	ACTIVE_NOT_RECRUITING	Testing a Combination of Vaccines for Cancer Prevention in Lynch Syndrome
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02052908	PHASE1	COMPLETED	Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome
NCT02359565	PHASE1	ACTIVE_NOT_RECRUITING	Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma
NCT04500548	PHASE1	WITHDRAWN	Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
NCT07163403	PHASE1	RECRUITING	First in Human Pilot Study to Assess the Safety and Efficacy of Dendritic Cells Loaded With Frameshift Derived Neopeptides for the Prevention of Cancer in of Lynch Syndrome Carriers
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