RPS28

Summary

RPS28 (ribosomal protein S28, HGNC:10418) is a protein-coding gene on chromosome 19p13.2, encoding Small ribosomal subunit protein eS28 (P62857). Component of the small ribosomal subunit. It is a common-essential gene (DepMap: required in 99.9% 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 S28E 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 6234 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (Moderate, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 39 total
• Phenotypes (HPO): 78
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001031

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10418
Approved symbol	RPS28
Name	ribosomal protein S28
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	S28, eS28
Ensembl gene	ENSG00000233927
Ensembl biotype	protein_coding
OMIM	603685
Entrez	6234

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 retained_intron

ENST00000417088, ENST00000449223, ENST00000600659, ENST00000602140, ENST00000930315, ENST00000930316, ENST00000930317, ENST00000948366, ENST00000948367

RefSeq mRNA: 1 — MANE Select: NM_001031 NM_001031

CCDS: CCDS45953

Canonical transcript exons

ENST00000600659 — 4 exons

Exon	Start	End
ENSE00001777789	8321656	8321703
ENSE00003008934	8321496	8321569
ENSE00003216633	8322272	8323340
ENSE00003472912	8321953	8322091

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9307 / max 64.5621, expressed in 1786 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173649	10.4587	1782
173648	0.4719	224

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.84	gold quality
adenohypophysis	UBERON:0002196	99.81	gold quality
mucosa of transverse colon	UBERON:0004991	99.81	gold quality
granulocyte	CL:0000094	99.80	gold quality
stromal cell of endometrium	CL:0002255	99.79	gold quality
skin of abdomen	UBERON:0001416	99.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.76	gold quality
right lobe of thyroid gland	UBERON:0001119	99.76	gold quality
left lobe of thyroid gland	UBERON:0001120	99.76	gold quality
body of pancreas	UBERON:0001150	99.76	gold quality
right uterine tube	UBERON:0001302	99.76	gold quality
left ovary	UBERON:0002119	99.76	gold quality
skin of leg	UBERON:0001511	99.75	gold quality
right ovary	UBERON:0002118	99.75	gold quality
metanephros cortex	UBERON:0010533	99.75	gold quality
endocervix	UBERON:0000458	99.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.74	gold quality
ectocervix	UBERON:0012249	99.73	gold quality
body of stomach	UBERON:0001161	99.72	gold quality
body of uterus	UBERON:0009853	99.70	gold quality
left adrenal gland cortex	UBERON:0035825	99.70	gold quality
transverse colon	UBERON:0001157	99.69	gold quality
minor salivary gland	UBERON:0001830	99.69	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.69	gold quality
right adrenal gland	UBERON:0001233	99.68	gold quality
left adrenal gland	UBERON:0001234	99.68	gold quality
right lung	UBERON:0002167	99.68	gold quality
upper lobe of left lung	UBERON:0008952	99.68	gold quality
left uterine tube	UBERON:0001303	99.67	gold quality

Single-cell (SCXA)

Detected in 38 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	6838.99
E-MTAB-9067	yes	5723.41
E-HCAD-31	yes	3848.53
E-HCAD-35	yes	2491.16
E-CURD-122	yes	107.61
E-MTAB-9221	yes	57.78
E-MTAB-10042	yes	16.56
E-GEOD-137537	yes	5.60
E-HCAD-25	yes	5.05
E-MTAB-10432	no	10960.86
E-CURD-120	no	9526.97
E-CURD-85	no	9347.90
E-MTAB-9467	no	8416.65
E-CURD-55	no	8346.11
E-HCAD-4	no	7739.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EZH2

miRNA regulators (miRDB)

5 targeting RPS28, 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-6081	99.48	66.07	1446
HSA-MIR-4494	97.86	64.93	850
HSA-MIR-4797-3P	97.48	67.14	989
HSA-MIR-3667-5P	97.16	64.87	591
HSA-MIR-4264	96.35	64.76	1480

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• A likely pathogenic X-linked mutation affecting a highly conserved residue was found in TSR2 and De novo mutations affecting the RPS28 start codon were found in two unrelated probands, identifying RPS28 as a novel disease gene. (PMID:24942156)
• 40S ribosomal protein S28 (RPS28) knockdown increases total peptide supply in uninfected cells by increasing DRiP synthesis from non-canonical translation of “untranslated” regions and non-AUG start codons and sensitizes tumor cells for T cell targeting. (PMID:30712990)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps28	ENSDARG00000035860
mus_musculus	Rps28	ENSMUSG00000067288
drosophila_melanogaster	RpS28b	FBGN0030136
drosophila_melanogaster	RpS28a	FBGN0039739
caenorhabditis_elegans		WBGENE00004497

Protein

Protein identifiers

Small ribosomal subunit protein eS28 — P62857 (reviewed: P62857)

Alternative names: 40S ribosomal protein S28

All UniProt accessions (2): P62857, B2R4R9

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. 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.

Subunit / interactions. Component of the 40S small 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. Cytosol. Rough endoplasmic reticulum. Nucleus. Nucleolus.

Disease relevance. Diamond-Blackfan anemia 15, with mandibulofacial dysostosis (DBA15) [MIM:606164] 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 eS28 family.

RefSeq proteins (1): NP_001022* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000289	Ribosomal_eS28	Family
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR028626	Ribosomal_eS28_CS	Conserved_site

Pfam: PF01200

UniProt features (9 total): strand 5, modified residue 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

214 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-P62857-F1	91.01	0.76

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 (2): 1, 41

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: 373 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, MODULE_151, GCM_NPM1, GOBP_MATURATION_OF_SSU_RRNA, HSIAO_HOUSEKEEPING_GENES, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_RIBOSOME_ASSEMBLY, GOBP_TRANSLATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP

GO Biological Process (7): ribosomal small subunit assembly (GO:0000028), cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), maturation of SSU-rRNA (GO:0030490), ribosome biogenesis (GO:0042254), ribosomal small subunit biogenesis (GO:0042274)

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

GO Cellular Component (16): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), small ribosomal subunit (GO:0015935), cytosolic small ribosomal subunit (GO:0022627), small-subunit processome (GO:0032040), synapse (GO:0045202), extracellular exosome (GO:0070062), cytoplasmic side of rough endoplasmic reticulum membrane (GO:0098556), nucleus (GO:0005634), nucleolus (GO:0005730), endoplasmic reticulum (GO:0005783), rough endoplasmic reticulum (GO:0005791), cytosolic ribosome (GO:0022626), 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	3
ribosomal small subunit biogenesis	2
ribosome biogenesis	2
ribonucleoprotein complex biogenesis	2
ribosome	2
nuclear lumen	2
cytoplasm	2
intracellular membraneless organelle	2
intracellular membrane-bounded organelle	2
protein-RNA complex assembly	1
ribosome assembly	1
translation	1
RNA processing	1
rRNA metabolic process	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
rRNA processing	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular anatomical structure	1
ribosomal subunit	1
small ribosomal subunit	1
cytosolic ribosome	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
cell junction	1
extracellular vesicle	1
rough endoplasmic reticulum membrane	1
cytoplasmic side of endoplasmic reticulum membrane	1
endomembrane system	1
endoplasmic reticulum	1
cytosol	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

216 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
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
CCNDBP1	RPS28	psi-mi:“MI:0915”(physical association)	0.560
RPS28	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
RPS28	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	RPS28	psi-mi:“MI:0915”(physical association)	0.560
RPS28	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560
RPS28		psi-mi:“MI:0915”(physical association)	0.560
RPS28	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	RPS28	psi-mi:“MI:0915”(physical association)	0.560
RPS28	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	RPS28	psi-mi:“MI:0915”(physical association)	0.560
	RPS28	psi-mi:“MI:0915”(physical association)	0.560
KRTAP2-3	RPS28	psi-mi:“MI:0915”(physical association)	0.560
RPS28	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	RPS28	psi-mi:“MI:0915”(physical association)	0.560
HMGB2	RPS28	psi-mi:“MI:0915”(physical association)	0.550
NHERF2	ACTN4	psi-mi:“MI:0914”(association)	0.510
RPS5	RPS28	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (421): CCNDBP1 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS), KRTAP4-12 (Two-hybrid), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS), RPS28 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PQN0, A1RS33, A1RXH2, A4FYI6, A4WLP1, A4YCQ2, A6USH4, A6UT50, A6VJU6, A9A7E6, B1L5N5, B1Y9V2, B9LPY3, G1TIB4, O26356, O29493, P0C0X0, P0CT79, P0CT80, P33285, P33286, P34789, P46302, P54065, P57711, P62857, P62858, P62859, Q02925, Q18GA9, Q3E7X9, Q54MZ5, Q56JX6, Q6EV21, Q6FLC3, Q6KZI6, Q6LZI8, Q6PBK3, Q6PS50, Q6QAT1

Diamond homologs: A0A1D8PQN0, A1RS33, A1RXH2, A2BK95, A4FYI6, A4WLP1, A4YCQ2, A6USH4, A6UT50, A6VJU6, A9A7E6, B0R500, B1L5N5, B1Y9V2, B9LPY3, G1TIB4, O26356, O29493, O61590, P0C0X0, P0CT79, P0CT80, P33285, P33286, P34789, P46302, P54065, P57710, P57711, P61029, P61030, P61031, P62857, P62858, P62859, Q18GA9, Q3E7X9, Q3IPM8, Q4JAV1, Q54MZ5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS28	“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
Eukaryotic Translation Initiation	8	20.1×	1e-07
Cap-dependent Translation Initiation	8	20.1×	1e-07
SARS-CoV-1 modulates host translation machinery	8	20.1×	1e-07
Formation of the ternary complex, and subsequently, the 43S complex	11	19.3×	3e-10
Ribosomal scanning and start codon recognition	12	18.6×	6e-11
Eukaryotic Translation Elongation	8	18.1×	3e-07
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	8	17.7×	3e-07
Nonsense-Mediated Decay (NMD)	9	17.1×	7e-08

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	19	23.8×	3e-18
stress granule assembly	5	20.3×	6e-04
translational initiation	8	19.4×	2e-06
ribosomal large subunit biogenesis	6	18.0×	2e-04
positive regulation of interferon-beta production	5	13.2×	3e-03
ribosomal small subunit biogenesis	8	12.3×	5e-05
negative regulation of translation	9	11.9×	2e-05
translation	16	11.1×	6e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	23
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

1032 predictions. Top by Δscore:

Variant	Effect	Δscore
19:8321316:C:CA	donor_gain	1.0000
19:8321568:GG:G	donor_gain	1.0000
19:8321569:GG:G	donor_gain	1.0000
19:8322063:G:GT	donor_gain	1.0000
19:8321322:T:TA	donor_gain	0.9900
19:8321328:G:C	donor_gain	0.9900
19:8321570:G:GG	donor_gain	0.9900
19:8321571:T:A	donor_loss	0.9900
19:8321651:TCCA:T	acceptor_loss	0.9900
19:8321652:CCAG:C	acceptor_loss	0.9900
19:8321653:CAG:C	acceptor_loss	0.9900
19:8321655:G:GA	acceptor_loss	0.9900
19:8321863:C:G	acceptor_gain	0.9900
19:8321896:C:CA	acceptor_gain	0.9900
19:8321897:G:A	acceptor_gain	0.9900
19:8321933:ACTCC:A	acceptor_gain	0.9900
19:8321937:C:CA	acceptor_gain	0.9900
19:8322072:C:G	donor_gain	0.9900
19:8322270:AG:A	acceptor_gain	0.9900
19:8322271:GG:G	acceptor_gain	0.9900
19:8322841:A:AC	donor_gain	0.9900
19:8322842:C:CC	donor_gain	0.9900
19:8321177:G:C	donor_gain	0.9800
19:8321306:AC:A	donor_gain	0.9800
19:8321306:ACC:A	donor_gain	0.9800
19:8321307:CC:C	donor_gain	0.9800
19:8321307:CCC:C	donor_gain	0.9800
19:8321317:C:A	donor_gain	0.9800
19:8321654:A:AG	acceptor_gain	0.9800
19:8321655:G:GG	acceptor_gain	0.9800

AlphaMissense

436 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:8321689:G:A	G25R	1.000
19:8321689:G:C	G25R	1.000
19:8321690:G:A	G25E	1.000
19:8321690:G:T	G25V	1.000
19:8321995:C:A	R44S	1.000
19:8322007:G:C	G48R	1.000
19:8321675:G:T	R20M	0.999
19:8321680:G:C	G22R	0.999
19:8321680:G:T	G22C	0.999
19:8321681:G:A	G22D	0.999
19:8321681:G:T	G22V	0.999
19:8321697:C:G	C27W	0.999
19:8321954:T:A	V30E	0.999
19:8321960:T:A	V32E	0.999
19:8321966:T:C	F34S	0.999
19:8321996:G:C	R44P	0.999
19:8322000:T:A	N45K	0.999
19:8322000:T:G	N45K	0.999
19:8322002:T:A	V46E	0.999
19:8322008:G:A	G48D	0.999
19:8322032:T:A	L56H	0.999
19:8322055:G:A	E64K	0.999
19:8322065:G:T	R67M	0.999
19:8321565:C:A	A12D	0.998
19:8321657:T:A	V14D	0.998
19:8321675:G:C	R20T	0.998
19:8321676:G:C	R20S	0.998
19:8321676:G:T	R20S	0.998
19:8321678:C:T	T21I	0.998
19:8321690:G:C	G25A	0.998

dbSNP variants (sampled 300 via entrez): RS1000277368 (19:8319560 C>A), RS1000326301 (19:8320233 G>T), RS1000612325 (19:8319932 ACCT>A), RS1002075244 (19:8321344 G>A,C,T), RS1002132462 (19:8321467 T>A,C,G), RS1003081998 (19:8322306 G>A,T), RS1003135908 (19:8322579 A>G), RS1003356850 (19:8323355 G>A,T), RS1003387778 (19:8323232 A>G), RS1004083881 (19:8323469 G>A), RS1004464503 (19:8323160 C>T), RS1004865479 (19:8319936 C>G), RS1006180671 (19:8321921 A>C), RS1006935278 (19:8322175 G>A), RS1007079914 (19:8320258 C>A,G,T)

Disease associations

OMIM: gene MIM:603685 | disease phenotypes: MIM:606164, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Moderate	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (MONDO:0011639), Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

78 total (30 of 78 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:0000175	Cleft palate
HP:0000185	Cleft soft palate
HP:0000193	Bifid uvula
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:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000402	Stenosis of the external auditory canal
HP:0000407	Sensorineural hearing impairment
HP:0000410	Mixed hearing impairment
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000776	Congenital diaphragmatic hernia
HP:0000912	Sprengel anomaly

GWAS associations

0 associations (top):

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), CHEMBL6067567 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

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

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.22	Kd	59.5	nM	CHEMBL5653589
7.22	ED50	59.5	nM	CHEMBL5653589
6.64	Kd	230.8	nM	CHEMBL3752910
6.64	ED50	230.8	nM	CHEMBL3752910
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

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

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149303: Binding affinity to human RPS28 incubated for 45 mins by Kinobead based pull down assay	kd	0.0595	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149303: Binding affinity to human RPS28 incubated for 45 mins by Kinobead based pull down assay	kd	0.2308	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	5
sodium arsenite	increases expression, affects expression, affects binding, decreases reaction, decreases activity (+2 more)	5
Smoke	increases abundance, decreases expression	2
FR900359	decreases phosphorylation	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
tetrahydropalmatine	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
perfluorooctanoic acid	decreases expression	1
artenimol	affects binding	1
epigallocatechin gallate	decreases expression	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Vehicle Emissions	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	affects expression	1
Fluorouracil	increases expression	1
Furaldehyde	increases expression, affects cotreatment, affects localization, decreases expression	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

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

Clinical trials (associated diseases)

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)