RPS15

Summary

RPS15 (ribosomal protein S15, HGNC:10388) is a protein-coding gene on chromosome 19p13.3, encoding Small ribosomal subunit protein uS19 (P62841). 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 S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6209 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 18 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_001018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10388
Approved symbol	RPS15
Name	ribosomal protein S15
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	RIG, MGC111130, S15, uS19
Ensembl gene	ENSG00000115268
Ensembl biotype	protein_coding
OMIM	180535
Entrez	6209

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 retained_intron

ENST00000233609, ENST00000585665, ENST00000586096, ENST00000586656, ENST00000586686, ENST00000589656, ENST00000591032, ENST00000591804, ENST00000592588, ENST00000592623, ENST00000592700, ENST00000593052, ENST00000617694, ENST00000927775, ENST00000927776

RefSeq mRNA: 2 — MANE Select: NM_001018 NM_001018, NM_001308226

CCDS: CCDS12067, CCDS77210

Canonical transcript exons

ENST00000592588 — 4 exons

Exon	Start	End
ENSE00002763800	1438396	1438428
ENSE00003597947	1440019	1440253
ENSE00003749048	1438807	1438892
ENSE00003902792	1440349	1440495

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 234.3929 / max 1700.9714, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172967	185.1846	1826
172966	49.1686	1811
172965	0.0398	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	99.86	gold quality
adenohypophysis	UBERON:0002196	99.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.83	gold quality
zone of skin	UBERON:0000014	99.82	gold quality
skin of abdomen	UBERON:0001416	99.82	gold quality
skin of leg	UBERON:0001511	99.82	gold quality
cerebellum	UBERON:0002037	99.82	gold quality
cerebellar cortex	UBERON:0002129	99.82	gold quality
cerebellar hemisphere	UBERON:0002245	99.82	gold quality
left ovary	UBERON:0002119	99.81	gold quality
right ovary	UBERON:0002118	99.80	gold quality
prostate gland	UBERON:0002367	99.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.79	gold quality
right uterine tube	UBERON:0001302	99.79	gold quality
temporal lobe	UBERON:0001871	99.79	gold quality
amygdala	UBERON:0001876	99.79	gold quality
ovary	UBERON:0000992	99.78	gold quality
primary visual cortex	UBERON:0002436	99.78	gold quality
lower esophagus mucosa	UBERON:0035834	99.78	gold quality
granulocyte	CL:0000094	99.77	gold quality
endocervix	UBERON:0000458	99.77	gold quality
embryo	UBERON:0000922	99.76	gold quality
vagina	UBERON:0000996	99.76	gold quality
putamen	UBERON:0001874	99.76	gold quality
nucleus accumbens	UBERON:0001882	99.76	gold quality
Ammon’s horn	UBERON:0001954	99.76	gold quality
ganglionic eminence	UBERON:0004023	99.76	gold quality
mucosa of transverse colon	UBERON:0004991	99.76	gold quality
thoracic mammary gland	UBERON:0005200	99.76	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.76	gold quality

Single-cell (SCXA)

Detected in 30 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-GEOD-89232	yes	4330.38
E-MTAB-11268	yes	2586.85
E-MTAB-7008	yes	2551.06
E-CURD-122	yes	101.55
E-MTAB-9221	yes	55.64
E-MTAB-6678	yes	36.71
E-MTAB-10042	yes	15.38
E-MTAB-9543	yes	13.95
E-HCAD-35	yes	10.28
E-MTAB-9801	yes	6.63
E-MTAB-8410	no	8741.45
E-CURD-112	no	7103.35
E-CURD-98	no	6237.18
E-MTAB-7606	no	5852.35
E-MTAB-8894	no	4838.59

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4, HNF1A, MYC, SPI1

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 10)

• RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network but employ different mechanisms to do so. (PMID:23874713)
• Study shows that ribosomal protein s15 is a key pathogenic LRRK2 substrate in Drosophila and human neuron Parkinson’s disease models. (PMID:24725412)
• we provide novel insights into the heterogeneous genomic landscape of relapsing chronic lymphocytic leukemia and report recurrent mutations in a “hotspot” region of RPS15 (PMID:26675346)
• Quantitative mass spectrometry analyses suggest that RPS15 variants may induce additional alterations in the translational machinery, as well as a metabolic shift at the proteome level in HEK293T and MEC-1 cells. These results indicate that chronic lymphocytic leukemia-related RPS15 mutations might act following patterns known for other ribosomal diseases. (PMID:30181176)
• our findings demonstrate that the human ribosomal protein uS19 interacts with mRNAs during translation elongation and highlight the regions of mRNAs where ribosome pausing occurs, bringing new structural and functional insights into eukaryotic translation in vivo. (PMID:31802126)
• Findings suggest that the C-terminal tail of uS19 plays a key role in the accommodation of aa-tRNA at the A site. (PMID:31991215)
• RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia. (PMID:34251413)
• The C-terminal tail of ribosomal protein Rps15 is engaged in cytoplasmic pre-40S maturation. (PMID:35438042)
• RPS15 interacted with IGF2BP1 to promote esophageal squamous cell carcinoma development via recognizing m[6]A modification. (PMID:37264021)
• The value of RPS15 and MRPS27 in ischemic stroke. (PMID:37603533)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps15	ENSDARG00000070849
mus_musculus	Rps15	ENSMUSG00000063457
rattus_norvegicus	Rps15	ENSRNOG00000024603
drosophila_melanogaster	RpS15	FBGN0034138
caenorhabditis_elegans	rps-15	WBGENE00004484

Protein

Protein identifiers

Small ribosomal subunit protein uS19 — P62841 (reviewed: P62841)

Alternative names: 40S ribosomal protein S15, RIG protein

All UniProt accessions (9): A0A0B4J2B4, A0A1Y8EIB3, P62841, K7EJ78, K7ELC2, K7EM56, K7EQJ5, S4R417, S4R456

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 small ribosomal subunit.

Subcellular location. Cytoplasm.

Similarity. Belongs to the universal ribosomal protein uS19 family.

RefSeq proteins (2): NP_001009, NP_001295155 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002222	Ribosomal_uS19	Family
IPR005713	Ribosomal_uS19_euk_arc	Family
IPR020934	Ribosomal_uS19_CS	Conserved_site
IPR023575	Ribosomal_uS19_SF	Homologous_superfamily

Pfam: PF00203

UniProt features (19 total): helix 8, strand 6, initiator methionine 1, chain 1, turn 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

208 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-P62841-F1	86.58	0.66

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): 2, 108

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: 191 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, ENK_UV_RESPONSE_KERATINOCYTE_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_REGENERATION, GOBP_RIBOSOME_ASSEMBLY, GOBP_TRANSLATION, GOBP_NUCLEAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL, GOBP_LIVER_REGENERATION

GO Biological Process (9): ribosomal small subunit assembly (GO:0000028), ribosomal small subunit export from nucleus (GO:0000056), osteoblast differentiation (GO:0001649), cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), ribosomal small subunit biogenesis (GO:0042274), liver regeneration (GO:0097421), positive regulation of signal transduction by p53 class mediator (GO:1901798)

GO Molecular Function (6): DNA binding (GO:0003677), 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): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), synapse (GO:0045202), 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 biogenesis	2
nucleic acid binding	2
ribosome	2
protein-RNA complex assembly	1
ribosome assembly	1
ribosomal small subunit biogenesis	1
ribosomal subunit export from nucleus	1
ossification	1
cell differentiation	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
ribonucleoprotein complex biogenesis	1
liver development	1
animal organ regeneration	1
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1
positive regulation of intracellular signal transduction	1
structural molecule activity	1
protein binding	1
ubiquitin-protein transferase inhibitor activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
cytosol	1
small ribosomal subunit	1
cytosolic ribosome	1
cell junction	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

339 interactions, top by confidence:

A	B	Type	Score
LRRK2	RPS15	psi-mi:“MI:0217”(phosphorylation reaction)	0.780
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RIOK1	PRMT5	psi-mi:“MI:0914”(association)	0.710
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
RPS6KA2	RPS6KA3	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
G2E3	RPS15	psi-mi:“MI:0915”(physical association)	0.560
RPS15	G2E3	psi-mi:“MI:0915”(physical association)	0.560
PPIA	RPS15	psi-mi:“MI:0915”(physical association)	0.560
ZNF169	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
MAK16	NVL	psi-mi:“MI:0914”(association)	0.530
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
BHLHA15	RPLP0	psi-mi:“MI:0914”(association)	0.530
L3MBTL1	DNAJB6	psi-mi:“MI:0914”(association)	0.530

BioGRID (594): G2E3 (Two-hybrid), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), MRPL14 (Co-fractionation), RNPS1 (Co-fractionation), RPL11 (Co-fractionation), RPL15 (Co-fractionation), RPL18A (Co-fractionation)

ESM2 similar proteins: A0B9W6, A1JS33, A4TGZ6, A4WFC4, A6TEW8, A7FNN1, A7I5P3, A7MPI3, A7MWI7, A9MN52, A9MSZ4, A9R900, B1JIW5, B1L708, B2K5M6, B2VK60, B4SUT6, B4TKL1, B4TXD8, B5BGY2, B5F8E8, B5FJL0, B5R287, B5RH19, B5XN98, C0Q0B2, C6DG70, G1U0Q2, P11256, P62841, P62842, P62843, P62844, P62845, P62846, P66491, P66492, Q0W1Y5, Q12ZU7, Q1C2V1

Diamond homologs: A0A1D8PK22, A0B9W6, A0RVX7, A1AVK4, A1RV74, A1RWQ5, A2BMB3, A2SPK7, A3CT01, A3DNB1, A3MTT6, A4FVX8, A4WIZ3, A4YCX0, A5CXK8, A5UL85, A6UQJ4, A6UV64, A6VHD6, A7I5P3, A8AA18, A8MC54, A9A5J1, A9A9B4, B0R660, B0U5K3, B1L708, B1YD00, B2I8H3, B3QBX6, B6YSL7, B9LSS3, C0QQM7, C5A282, C6A163, G1U0Q2, O26114, O28358, O59422, O65059

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
LRRK2	“up-regulates activity”	RPS15	phosphorylation
RPS15	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 210 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	10	22.2×	5e-10
Eukaryotic Translation Initiation	9	20.0×	1e-08
Cap-dependent Translation Initiation	9	20.0×	1e-08
Formation of the ternary complex, and subsequently, the 43S complex	12	18.6×	4e-11
Eukaryotic Translation Elongation	9	18.0×	3e-08
Ribosomal scanning and start codon recognition	13	17.8×	9e-12
Formation of a pool of free 40S subunits	22	17.7×	1e-19
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	9	17.6×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	5	29.9×	9e-05
cytoplasmic translation	22	21.7×	1e-20
ribosomal large subunit biogenesis	8	18.9×	2e-06
ribosomal small subunit biogenesis	10	12.1×	2e-06
rRNA processing	16	12.1×	1e-10
translation	21	11.5×	8e-14
translational initiation	6	11.4×	2e-03
regulation of signal transduction by p53 class mediator	5	10.2×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

602 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1438888:TCCTA:T	donor_gain	1.0000
19:1438889:CCTAG:C	donor_loss	1.0000
19:1438890:CTAG:C	donor_loss	1.0000
19:1438891:TA:T	donor_gain	1.0000
19:1438892:AG:A	donor_loss	1.0000
19:1438893:G:GG	donor_gain	1.0000
19:1438894:T:G	donor_loss	1.0000
19:1440014:CCCA:C	acceptor_loss	1.0000
19:1440015:CCAG:C	acceptor_loss	1.0000
19:1440017:A:AG	acceptor_gain	1.0000
19:1440017:AGC:A	acceptor_gain	1.0000
19:1440018:G:GT	acceptor_gain	1.0000
19:1440018:GC:G	acceptor_gain	1.0000
19:1440018:GCG:G	acceptor_gain	1.0000
19:1440018:GCGA:G	acceptor_gain	1.0000
19:1440253:GGTG:G	donor_loss	1.0000
19:1440254:GTGT:G	donor_loss	1.0000
19:1440255:T:A	donor_loss	1.0000
19:1440336:T:A	acceptor_gain	1.0000
19:1440337:G:A	acceptor_gain	1.0000
19:1440344:C:A	acceptor_gain	1.0000
19:1440344:CGCA:C	acceptor_loss	1.0000
19:1440345:GCA:G	acceptor_loss	1.0000
19:1440346:CAG:C	acceptor_loss	1.0000
19:1440347:A:AG	acceptor_gain	1.0000
19:1440347:AGCCC:A	acceptor_gain	1.0000
19:1440348:G:GA	acceptor_gain	1.0000
19:1440348:GC:G	acceptor_gain	1.0000
19:1440348:GCC:G	acceptor_gain	1.0000
19:1440348:GCCC:G	acceptor_gain	1.0000

AlphaMissense

942 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1438837:T:C	F12L	1.000
19:1438839:C:A	F12L	1.000
19:1438839:C:G	F12L	1.000
19:1438846:T:C	F15L	1.000
19:1438848:C:A	F15L	1.000
19:1438848:C:G	F15L	1.000
19:1438877:T:C	L25P	1.000
19:1440213:G:A	G95D	1.000
19:1440216:T:A	V96D	1.000
19:1440224:G:C	G99R	1.000
19:1440225:G:A	G99D	1.000
19:1440225:G:T	G99V	1.000
19:1440233:T:C	F102L	1.000
19:1440235:C:A	F102L	1.000
19:1440235:C:G	F102L	1.000
19:1440374:G:A	G117D	1.000
19:1440408:T:A	H128Q	1.000
19:1440408:T:G	H128Q	1.000
19:1440418:G:C	G132R	1.000
19:1440418:G:T	G132C	1.000
19:1440419:G:A	G132D	1.000
19:1440424:G:A	G134R	1.000
19:1440424:G:C	G134R	1.000
19:1440424:G:T	G134W	1.000
19:1440425:G:A	G134E	1.000
19:1440425:G:T	G134V	1.000
19:1440428:C:A	A135D	1.000
19:1440431:C:T	T136I	1.000
19:1440437:C:T	S138F	1.000
19:1440440:C:T	S139F	1.000

dbSNP variants (sampled 300 via entrez): RS1000457377 (19:1439409 C>T), RS1000807244 (19:1439159 G>A,C,T), RS1001194964 (19:1439483 C>T), RS1001247032 (19:1439653 C>T), RS1001347954 (19:1436866 T>C), RS1001401591 (19:1437002 T>C), RS1002703090 (19:1438647 C>G), RS1002867968 (19:1440450 C>T), RS1002922524 (19:1440770 G>A,C), RS1003083413 (19:1436405 C>T), RS1003214046 (19:1439729 G>C,T), RS1004481115 (19:1440969 C>T), RS1005252570 (19:1437447 C>G,T), RS1005611706 (19:1437120 C>A), RS1005969565 (19:1437373 G>A,T)

Disease associations

OMIM: gene MIM:180535 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Limited	Autosomal dominant

Mondo (1): Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST90002383_94	Hematocrit	8.000000e-12
GCST90002384_442	Hemoglobin	8.000000e-12
GCST90002403_343	Red blood cell count	8.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count

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), CHEMBL6067561 (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
7.83	Kd	14.91	nM	CHEMBL5653589
7.83	ED50	14.91	nM	CHEMBL5653589
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	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
5.39	Kd	4044	nM	CHEMBL3752910
5.39	ED50	4044	nM	CHEMBL3752910
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	2149287: Binding affinity to human RPS15 incubated for 45 mins by Kinobead based pull down assay	kd	0.0149	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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149287: Binding affinity to human RPS15 incubated for 45 mins by Kinobead based pull down assay	kd	4.0439	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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, increases methylation, affects cotreatment	5
bisphenol A	affects expression, decreases expression	4
sodium arsenite	increases activity, increases abundance, increases expression, decreases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
Arsenic	decreases expression, increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	affects splicing	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
tetrabromobisphenol A	decreases expression	1
ochratoxin A	increases expression	1
arsenic trichloride	decreases expression, increases abundance	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases 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)