RPS15A

Summary

RPS15A (ribosomal protein S15a, HGNC:10389) is a protein-coding gene on chromosome 16p12.3, encoding Small ribosomal subunit protein uS8 (P62244). 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 S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6210 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 39 total — 1 pathogenic
• Phenotypes (HPO): 63
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_001019

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10389
Approved symbol	RPS15A
Name	ribosomal protein S15a
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	S15A, uS8
Ensembl gene	ENSG00000134419
Ensembl biotype	protein_coding
OMIM	603674
Entrez	6210

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 22 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000322989, ENST00000562935, ENST00000563390, ENST00000563579, ENST00000565420, ENST00000569083, ENST00000569365, ENST00000572008, ENST00000573554, ENST00000574723, ENST00000575669, ENST00000576008, ENST00000576436, ENST00000884970, ENST00000884971, ENST00000884972, ENST00000924188, ENST00000924189, ENST00000924190, ENST00000924191, ENST00000924192, ENST00000924193, ENST00000924194, ENST00000924195, ENST00000924196, ENST00000924197, ENST00000924198, ENST00000924199, ENST00000941219

RefSeq mRNA: 2 — MANE Select: NM_001019 NM_001019, NM_001030009

CCDS: CCDS10571

Canonical transcript exons

ENST00000322989 — 5 exons

Exon	Start	End
ENSE00001110637	18790244	18790334
ENSE00001839084	18781295	18783102
ENSE00003461843	18788063	18788142
ENSE00003526615	18784738	18784823
ENSE00003652333	18788981	18789118

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 99.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 149.3922 / max 1380.7648, expressed in 1818 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156560	138.9072	1817
156559	10.4850	1685

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.90	gold quality
ganglionic eminence	UBERON:0004023	99.90	gold quality
left ovary	UBERON:0002119	99.89	gold quality
right ovary	UBERON:0002118	99.88	gold quality
granulocyte	CL:0000094	99.87	gold quality
ventricular zone	UBERON:0003053	99.87	gold quality
endocervix	UBERON:0000458	99.86	gold quality
skin of abdomen	UBERON:0001416	99.85	gold quality
cortical plate	UBERON:0005343	99.85	gold quality
left uterine tube	UBERON:0001303	99.84	gold quality
right lung	UBERON:0002167	99.84	gold quality
body of uterus	UBERON:0009853	99.84	gold quality
ectocervix	UBERON:0012249	99.84	gold quality
right uterine tube	UBERON:0001302	99.83	gold quality
leukocyte	CL:0000738	99.82	gold quality
skin of leg	UBERON:0001511	99.82	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.82	gold quality
monocyte	CL:0000576	99.81	gold quality
mucosa of stomach	UBERON:0001199	99.81	gold quality
gall bladder	UBERON:0002110	99.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.81	gold quality
rectum	UBERON:0001052	99.80	gold quality
left lobe of thyroid gland	UBERON:0001120	99.80	gold quality
body of pancreas	UBERON:0001150	99.80	gold quality
transverse colon	UBERON:0001157	99.80	gold quality
body of stomach	UBERON:0001161	99.80	gold quality
minor salivary gland	UBERON:0001830	99.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.80	gold quality
bone marrow cell	CL:0002092	99.79	gold quality
right lobe of thyroid gland	UBERON:0001119	99.79	gold quality

Single-cell (SCXA)

Detected in 39 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	10413.63
E-CURD-88	yes	7970.45
E-CURD-122	yes	7806.54
E-MTAB-9221	yes	5501.25
E-MTAB-6678	yes	43.50
E-GEOD-135922	yes	29.87
E-MTAB-9067	yes	27.31
E-MTAB-7316	yes	14.70
E-CURD-112	yes	10.47
E-HCAD-35	yes	8.91
E-GEOD-137537	yes	6.40
E-MTAB-9801	yes	5.98
E-HCAD-4	no	13411.38
E-CURD-46	no	13000.21
E-CURD-55	no	11030.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, ZBTB4

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 18)

• RPS15A may play a prominent role in heptocarcinogenesis and serve as a potential therapeutic target in hepatocellular carcinoma. (PMID:24334120)
• we identify RPS15A as a novel potential oncogenic gene involved in lung carcinogenesis. (PMID:25833696)
• Our findings indicate that RPS15A promotes cell proliferation and migration in glioblastoma for the first time. RPS15A might play a distinct role in glioblastoma and serve as a potential target for therapy (PMID:26537582)
• Results show that RPS15A is overexpressed in colorectal cancer (CRC) tissue and predicts a worse prognosis and outcome of CRC patients through misregulation of cell cycle progression and promotion of metastasis. (PMID:26847263)
• the present study provides novel evidence indicating that RPS15A modulates AML cell growth in vitro, and may be considered a novel therapeutic target for the treatment of AML. (PMID:27035327)
• High RPS15A expression is associated with glioblastoma. (PMID:27130037)
• RPS15A is a novel causative gene for Diamond-Blackfan anemia. (PMID:27909223)
• High RPS15A expression is associated with angiogenesis in hepatocellular carcinoma. (PMID:29242604)
• The present study found RPS15a expression to be higher in gastric tumors and its silencing in gastric cancer cells to inhibit the proliferation, growth, and migration thereof. Accordingly, RPS15a may be considered as a potential therapeutic target in gastric cancer. (PMID:30450850)
• A preliminary experimental basis for RPS15A as a novel oncogene and potential therapeutic target in RCC. (PMID:30569143)
• Ribosomal protein S15a (RPS15A) is up-regulated in gastric cancer (GC) patients and associated with poor prognosis. (PMID:30661291)
• miR-29a-3p inhibits CRC cell function possibly by targeting RPS15A (PMID:31303129)
• Ribosomal protein small subunit 15A (RPS15A) inhibits the apoptosis of breast cancer MDA-MB-231 cells via upregulating phosphorylated ERK1/2, Bad, and Chk1. (PMID:31535410)
• MicroRNA-147b suppresses the proliferation and invasion of non-small-cell lung cancer cells through downregulation of Wnt/beta-catenin signalling via targeting of RPS15A. (PMID:31665807)
• Ribosomal protein RPS15A augments proliferation of colorectal cancer RKO cells via regulation of BIRC3, p38 MAPK and Chk1. (PMID:34156695)
• FOXN3 inhibits the progression of ovarian cancer through negatively regulating the expression of RPS15A. (PMID:37016167)
• MicroRNA-147b induces neuroendocrine differentiation of prostate cancer cells by targeting ribosomal protein RPS15A. (PMID:37069746)
• MCM8 promotes gastric cancer progression through RPS15A and predicts poor prognosis. (PMID:38988047)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps15a	ENSDARG00000010160
mus_musculus	Rps15a	ENSMUSG00000008683
rattus_norvegicus	AABR07072261.1	ENSRNOG00000032877
drosophila_melanogaster	RpS15Aa	FBGN0010198
drosophila_melanogaster	RpS15Ab	FBGN0033555
caenorhabditis_elegans		WBGENE00004491

Protein

Protein identifiers

Small ribosomal subunit protein uS8 — P62244 (reviewed: P62244)

Alternative names: 40S ribosomal protein S15a

All UniProt accessions (8): P62244, B2R4W8, H3BT37, H3BV27, H3BVC7, I3L246, I3L303, I3L3P7

UniProt curated annotations — full annotation on UniProt →

Function. Component of the small ribosomal subunit. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Required for proper erythropoiesis.

Subunit / interactions. Component of the 40S ribosomal subunit. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.

Subcellular location. Cytoplasm. Nucleus. Nucleolus.

Disease relevance. Diamond-Blackfan anemia 20 (DBA20) [MIM:618313] A 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. DBA20 inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the universal ribosomal protein uS8 family.

RefSeq proteins (2): NP_001010, NP_001025180 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000630	Ribosomal_uS8	Family
IPR035987	Ribosomal_uS8_sf	Homologous_superfamily
IPR047863	Ribosomal_uS8_CS	Conserved_site

Pfam: PF00410

UniProt features (19 total): strand 9, helix 4, sequence conflict 3, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

213 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-P62244-F1	93.04	0.90

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 (1): 88

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: 409 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, MODULE_151, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_TRANSLATION, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_REGULATION_OF_CELL_CYCLE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, VIETOR_IFRD1_TARGETS, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP

GO Biological Process (6): cytoplasmic translation (GO:0002181), translation (GO:0006412), positive regulation of cell population proliferation (GO:0008284), response to virus (GO:0009615), ribosomal small subunit biogenesis (GO:0042274), positive regulation of cell cycle (GO:0045787)

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), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), small-subunit processome (GO:0032040), extracellular exosome (GO:0070062), nucleus (GO:0005634), nucleolus (GO:0005730), ribosome (GO:0005840), 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
positive regulation of cellular process	2
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
cell population proliferation	1
regulation of cell population proliferation	1
response to other organism	1
ribonucleoprotein complex biogenesis	1
ribosome biogenesis	1
cell cycle	1
regulation of cell cycle	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cytosol	1
small ribosomal subunit	1
cytosolic ribosome	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
extracellular vesicle	1
intracellular membrane-bounded organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

287 interactions, top by confidence:

A	B	Type	Score
N	HNRNPR	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
RPS7	RPL5	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPS15A		psi-mi:“MI:0915”(physical association)	0.560
RPS15A	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
GRN	RPS15A	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	GSN	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	PMP22	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	WFS1	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
RPS15A	RNF11	psi-mi:“MI:0915”(physical association)	0.560
HTT	RPS15A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (658): RPS15A (Affinity Capture-MS), RPS15A (Affinity Capture-MS), RPS15A (Affinity Capture-MS), RPS15A (Two-hybrid), RPS15A (Two-hybrid), DIMT1 (Co-fractionation), EIF6 (Co-fractionation), FAU (Co-fractionation), GNL1 (Co-fractionation), GNL3 (Co-fractionation), IMP3 (Co-fractionation), MPHOSPH10 (Co-fractionation), MRPL14 (Co-fractionation), MRPL16 (Co-fractionation), MRPL22 (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: A0B9V5, A0RVY8, A1RVN1, A1RWS0, A2BMD4, A2SPL7, A3CT12, A3DNC2, A3MSJ6, A4FWA6, A4WMD9, A4YCY1, A5UL73, A6UQ59, A6UWV3, A6VH00, A7I5Q4, A8ACD7, A8MAJ5, A9A5I0, A9A9P9, B0R671, B1L781, B1Y8V5, B6YSM9, B8D5V5, B8GKE8, B9LSR2, C3MQ74, C3MVJ3, C3N5U2, C3NEF8, C3NH94, C4KHH1, C5A270, C6A175, G1TG89, O05636, O26126, O28369

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS15A	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 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
SARS-CoV-1 modulates host translation machinery	8	19.3×	2e-07
Eukaryotic Translation Initiation	7	16.9×	4e-06
Cap-dependent Translation Initiation	7	16.9×	4e-06
Formation of the ternary complex, and subsequently, the 43S complex	10	16.8×	1e-08
Ribosomal scanning and start codon recognition	11	16.4×	2e-09
SRP-dependent cotranslational protein targeting to membrane	20	15.7×	5e-16
Eukaryotic Translation Elongation	7	15.2×	7e-06
Translation initiation complex formation	10	14.9×	4e-08

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	17	21.4×	3e-15
stress granule assembly	5	20.5×	5e-04
translational initiation	7	17.1×	4e-05
intrinsic apoptotic signaling pathway	7	17.1×	4e-05
regulation of translational initiation	5	15.9×	1e-03
positive regulation of interferon-beta production	5	13.3×	3e-03
rRNA processing	13	12.5×	1e-08
mRNA stabilization	5	12.5×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	8
Likely benign	23
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
617665	NM_001019.5(RPS15A):c.213G>A (p.Lys71=)	Pathogenic

SpliceAI

777 predictions. Top by Δscore:

Variant	Effect	Δscore
16:18783098:TGAAA:T	acceptor_gain	1.0000
16:18783103:C:CC	acceptor_gain	1.0000
16:18784733:CTT:C	donor_loss	1.0000
16:18784734:TTA:T	donor_loss	1.0000
16:18784735:T:TG	donor_loss	1.0000
16:18784736:A:AC	donor_gain	1.0000
16:18784736:AC:A	donor_gain	1.0000
16:18784737:C:CT	donor_gain	1.0000
16:18784737:CC:C	donor_gain	1.0000
16:18784819:CCACA:C	acceptor_gain	1.0000
16:18784820:CACA:C	acceptor_gain	1.0000
16:18784820:CACAC:C	acceptor_gain	1.0000
16:18784821:ACA:A	acceptor_gain	1.0000
16:18784822:CA:C	acceptor_gain	1.0000
16:18784822:CAC:C	acceptor_gain	1.0000
16:18784824:C:CC	acceptor_gain	1.0000
16:18784826:A:AC	acceptor_gain	1.0000
16:18784826:A:C	acceptor_gain	1.0000
16:18784831:A:AC	acceptor_gain	1.0000
16:18784836:A:T	acceptor_gain	1.0000
16:18788057:TCTTA:T	donor_loss	1.0000
16:18788058:CTTA:C	donor_loss	1.0000
16:18788059:TTA:T	donor_loss	1.0000
16:18788060:TA:T	donor_loss	1.0000
16:18788142:CCTAC:C	acceptor_loss	1.0000
16:18788143:C:CC	acceptor_gain	1.0000
16:18788143:C:T	acceptor_loss	1.0000
16:18788144:T:A	acceptor_loss	1.0000
16:18788976:CTTA:C	donor_loss	1.0000
16:18788979:A:AC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000041846 (16:18781417 G>A), RS1000112108 (16:18786938 C>G), RS1000240616 (16:18781717 T>A,C), RS1000274400 (16:18786686 G>A), RS1000835621 (16:18790275 G>A,T), RS1001022854 (16:18791364 C>T), RS1002044306 (16:18783850 T>C), RS1002315331 (16:18789096 G>A), RS1002813138 (16:18789745 T>G), RS1003073686 (16:18786860 T>C), RS1003147436 (16:18786510 A>C), RS1003400792 (16:18788443 C>T), RS1003881926 (16:18788026 C>A), RS1004018136 (16:18789026 A>G), RS1004627420 (16:18784459 T>G)

Disease associations

OMIM: gene MIM:603674 | disease phenotypes: MIM:618313

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Supportive	Autosomal dominant
Diamond-Blackfan anemia 20	Limited	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 20 (MONDO:0032670), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (0):

HPO phenotypes

63 total (30 of 63 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

2 associations (top):

Study	Trait	p-value
GCST010002_110	Refractive error	9.000000e-10
GCST011126_29	Caffeine consumption from coffee or tea	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006781	coffee consumption measurement
EFO:0010091	tea consumption measurement

MeSH disease descriptors (1)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067570 (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

51 potent at pChembl≥5 of 55 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.19	Kd	6.414	nM	CHEMBL3752910
8.19	ED50	6.414	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
5.86	IC50	1390	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
5.27	Kd	5319	nM	CHEMBL5653589
5.27	ED50	5319	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

49 with measured affinity, of 215 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	2149288: Binding affinity to human RPS15A incubated for 45 mins by Kinobead based pull down assay	kd	0.0064	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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178688: Inhibition of RPS15A (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	1.3900	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	2149288: Binding affinity to human RPS15A incubated for 45 mins by Kinobead based pull down assay	kd	5.3192	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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases activity, increases abundance, increases expression	5
Valproic Acid	decreases expression, increases expression, affects cotreatment	5
bisphenol A	affects expression, decreases expression, increases expression	4
Particulate Matter	decreases expression, increases expression	3
entinostat	decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Estradiol	decreases expression, decreases reaction, increases reaction	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression, increases abundance	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
3,3’-diindolylmethane	decreases expression, decreases reaction	1
tetrabromobisphenol A	decreases expression	1
phenanthrene	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
acyline	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1

ChEMBL screening assays

96 unique, capped per target: 96 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)