RPS29

Summary

RPS29 (ribosomal protein S29, HGNC:10419) is a protein-coding gene on chromosome 14q21.3, encoding Small ribosomal subunit protein uS14 (P62273). 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 and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6235 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 13 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 74 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 65
• 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_001032

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10419
Approved symbol	RPS29
Name	ribosomal protein S29
Location	14q21.3
Locus type	gene with protein product
Status	Approved
Aliases	S29, uS14
Ensembl gene	ENSG00000213741
Ensembl biotype	protein_coding
OMIM	603633
Entrez	6235

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000245458, ENST00000396020, ENST00000539688, ENST00000554075, ENST00000556230, ENST00000557111, ENST00000557367, ENST00000557519, ENST00000935321, ENST00000935322

RefSeq mRNA: 3 — MANE Select: NM_001032 NM_001030001, NM_001032, NM_001351375

CCDS: CCDS32072, CCDS86388, CCDS9685

Canonical transcript exons

ENST00000245458 — 3 exons

Exon	Start	End
ENSE00000000052	49586285	49586380
ENSE00003690459	49585950	49586049
ENSE00003901155	49583577	49583675

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 246.0298 / max 2584.2435, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143080	246.0298	1825

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
caput epididymis	UBERON:0004358	99.96	gold quality
penis	UBERON:0000989	99.95	gold quality
parietal pleura	UBERON:0002400	99.95	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.95	gold quality
granulocyte	CL:0000094	99.94	gold quality
superficial temporal artery	UBERON:0001614	99.94	gold quality
nipple	UBERON:0002030	99.94	gold quality
ganglionic eminence	UBERON:0004023	99.94	gold quality
cortical plate	UBERON:0005343	99.94	gold quality
embryo	UBERON:0000922	99.93	gold quality
pleura	UBERON:0000977	99.93	gold quality
upper leg skin	UBERON:0004262	99.93	gold quality
corpus epididymis	UBERON:0004359	99.93	gold quality
mucosa of transverse colon	UBERON:0004991	99.93	gold quality
lower lobe of lung	UBERON:0008949	99.93	gold quality
oral cavity	UBERON:0000167	99.92	gold quality
right uterine tube	UBERON:0001302	99.92	gold quality
germinal epithelium of ovary	UBERON:0001304	99.92	gold quality
skin of hip	UBERON:0001554	99.92	gold quality
visceral pleura	UBERON:0002401	99.92	gold quality
type B pancreatic cell	CL:0000169	99.91	gold quality
pylorus	UBERON:0001166	99.91	gold quality
skin of abdomen	UBERON:0001416	99.91	gold quality
skin of leg	UBERON:0001511	99.91	gold quality
mammary duct	UBERON:0001765	99.91	gold quality
palpebral conjunctiva	UBERON:0001812	99.91	gold quality
epithelium of nasopharynx	UBERON:0001951	99.91	gold quality
left ovary	UBERON:0002119	99.91	gold quality
cauda epididymis	UBERON:0004360	99.91	gold quality
left testis	UBERON:0004533	99.91	gold quality

Single-cell (SCXA)

Detected in 52 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-9467	yes	11891.69
E-CURD-126	yes	10407.66
E-CURD-88	yes	9961.01
E-MTAB-6701	yes	9360.73
E-MTAB-9221	yes	9341.70
E-MTAB-8322	yes	8095.66
E-HCAD-1	yes	7320.65
E-MTAB-8410	yes	6081.11
E-CURD-122	yes	5309.18
E-GEOD-134144	yes	5062.56
E-CURD-46	yes	5059.57
E-CURD-98	yes	3406.29
E-MTAB-8142	yes	139.94
E-MTAB-6678	yes	36.33
E-CURD-112	yes	34.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting RPS29, 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-4425	100.00	67.59	1049
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-494-3P	99.70	71.45	2795

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• The content of protein S29 in ribosomes of lung cancer cell line A549 was distinctly low. (PMID:12625830)
• We uncovered a novel Diamond-Blackfan anemia causative gene, RPS29 (PMID:24829207)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps29	ENSDARG00000041232
rattus_norvegicus	Rps29-ps15	ENSRNOG00000028939
rattus_norvegicus		ENSRNOG00000070428
drosophila_melanogaster	RpS29	FBGN0261599
caenorhabditis_elegans		WBGENE00004498

Protein

Protein identifiers

Small ribosomal subunit protein uS14 — P62273 (reviewed: P62273)

Alternative names: 40S ribosomal protein S29

All UniProt accessions (4): A0A087WTT6, A0A2R8Y6P7, A0A2R8Y851, P62273

UniProt curated annotations — full annotation on UniProt →

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

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

Subcellular location. Cytoplasm. Cytosol. Rough endoplasmic reticulum.

Disease relevance. Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] 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.

Cofactor. Binds 1 zinc ion per subunit.

Similarity. Belongs to the universal ribosomal protein uS14 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P62273-1	1	yes
P62273-2	2

RefSeq proteins (3): NP_001023, NP_001025172, NP_001338304 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001209	Ribosomal_uS14	Family
IPR018271	Ribosomal_uS14_CS	Conserved_site
IPR039744	RIbosomal_uS14_euk_arc	Family
IPR043140	Ribosomal_uS14_sf	Homologous_superfamily

Pfam: PF00253

UniProt features (20 total): binding site 4, strand 3, helix 3, modified residue 3, sequence variant 2, turn 2, initiator methionine 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

200 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8GLP	ELECTRON MICROSCOPY	1.67
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
7R4X	ELECTRON MICROSCOPY	2.15
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8YOP	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
9QLO	ELECTRON MICROSCOPY	2.47
9P8B	ELECTRON MICROSCOPY	2.48
7XNY	ELECTRON MICROSCOPY	2.5
8JDJ	ELECTRON MICROSCOPY	2.5
9RUC	ELECTRON MICROSCOPY	2.5
8G60	ELECTRON MICROSCOPY	2.54
8IFE	ELECTRON MICROSCOPY	2.57
9P7D	ELECTRON MICROSCOPY	2.57

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62273-F1	93.68	0.87

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 21; 24; 39; 42

Post-translational modifications (3): 9, 12, 48

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: 419 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, AAGCCAT_MIR135A_MIR135B, HSIAO_HOUSEKEEPING_GENES, GOBP_TRANSLATION, CREB_Q4, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL, ATF3_Q6, CREB_Q2_01, DANG_BOUND_BY_MYC, MODULE_29, ATF_01, CREBP1CJUN_01

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

GO Molecular Function (4): structural constituent of ribosome (GO:0003735), zinc ion binding (GO:0008270), RNA binding (GO:0003723), metal ion binding (GO:0046872)

GO Cellular Component (13): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), small ribosomal subunit (GO:0015935), cytosolic small ribosomal subunit (GO:0022627), extracellular exosome (GO:0070062), cytoplasmic side of rough endoplasmic reticulum membrane (GO:0098556), 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
ribosome	2
cytoplasm	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
structural molecule activity	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cell-substrate junction	1
ribosomal subunit	1
small ribosomal subunit	1
cytosolic ribosome	1
extracellular vesicle	1
rough endoplasmic reticulum membrane	1
cytoplasmic side of endoplasmic reticulum membrane	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
cytosol	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

142 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
L3MBTL1	DNAJB6	psi-mi:“MI:0914”(association)	0.530
RPS11	RPS17	psi-mi:“MI:0403”(colocalization)	0.530
RPS14	RPS19	psi-mi:“MI:0403”(colocalization)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
	FER1L5	psi-mi:“MI:0915”(physical association)	0.400
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
RPS29	ADH6	psi-mi:“MI:0915”(physical association)	0.370
RPS29	CTBP2	psi-mi:“MI:0915”(physical association)	0.370
SMARCD1	RPS29	psi-mi:“MI:0915”(physical association)	0.370
UMPS	RPS29	psi-mi:“MI:0915”(physical association)	0.370
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
EXOSC4	RPS3	psi-mi:“MI:0914”(association)	0.350
KRAS		psi-mi:“MI:0914”(association)	0.350

BioGRID (275): RPS29 (Affinity Capture-MS), HNRNPU (Co-fractionation), RPL19 (Co-fractionation), RPL9 (Co-fractionation), RPS2 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Co-fractionation), RPS29 (Affinity Capture-MS), RPS29 (Affinity Capture-MS), RPS29 (Affinity Capture-MS), RPS29 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PTR4, A3CS13, G1U7M4, L7IM20, O05635, O26125, O28368, O74329, P0CT15, P41057, P41058, P58731, P62273, P62274, P62275, P62276, Q12ZT7, Q2FSG1, Q2NFX1, Q46GA9, Q4LAY1, Q4PM47, Q56FL2, Q5I7K3, Q5R9J0, Q5UAL3, Q680P8, Q6BY86, Q6F473, Q6FWE3, Q6L1B3, Q6LXD9, Q6QAP6, Q6UZG0, Q757G1, Q76P36, Q7XYB0, Q8PV36, Q8SS73, Q8TRT3

Diamond homologs: A0A1D8PTR4, G1U7M4, L7IM20, O05635, O26125, O28368, O74329, P0CT15, P14041, P26816, P41057, P41058, P54110, P58731, P62012, P62013, P62273, P62274, P62275, P62276, Q12ZT7, Q18GG3, Q2FSG1, Q2NFX1, Q3IMX4, Q3ISB2, Q46GA9, Q4LAY1, Q4PM47, Q56FL2, Q5I7K3, Q5JJG2, Q5MGJ4, Q5R9J0, Q5UAL3, Q680P8, Q6BY86, Q6CPG3, Q6F473, Q6FWE3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS29	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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	26.3×	1e-08
Cap-dependent Translation Initiation	8	26.3×	1e-08
SARS-CoV-1 modulates host translation machinery	8	26.3×	1e-08
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	9	26.0×	3e-09
Eukaryotic Translation Elongation	8	23.7×	3e-08
Formation of the ternary complex, and subsequently, the 43S complex	10	22.9×	1e-09
Translation initiation complex formation	11	22.3×	2e-10
Ribosomal scanning and start codon recognition	11	22.3×	2e-10

GO biological processes:

GO term	Partners	Fold	FDR
translational initiation	7	22.0×	1e-05
cytoplasmic translation	12	19.5×	1e-09
ribosomal small subunit biogenesis	7	14.0×	1e-04
negative regulation of translation	8	13.8×	3e-05
translation	11	9.9×	8e-06
chromosome segregation	6	9.1×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	26
Likely benign	35
Benign	3

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
140738	NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)	Pathogenic
140739	NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	Likely pathogenic
421606	NM_001032.5(RPS29):c.73T>C (p.Ser25Pro)	Likely pathogenic
449694	NM_001032.5(RPS29):c.63-3C>A	Likely pathogenic

SpliceAI

368 predictions. Top by Δscore:

Variant	Effect	Δscore
14:49585946:CTAC:C	donor_loss	1.0000
14:49585947:TA:T	donor_loss	1.0000
14:49585948:A:AC	donor_gain	1.0000
14:49585949:C:CC	donor_gain	1.0000
14:49586045:CACGA:C	acceptor_gain	1.0000
14:49586047:CGA:C	acceptor_gain	1.0000
14:49586050:C:CC	acceptor_gain	1.0000
14:49583676:C:CC	acceptor_gain	0.9900
14:49586046:ACGA:A	acceptor_gain	0.9900
14:49586047:CGAC:C	acceptor_gain	0.9900
14:49586048:GA:G	acceptor_gain	0.9900
14:49586048:GAC:G	acceptor_loss	0.9900
14:49586049:ACT:A	acceptor_loss	0.9900
14:49586050:CT:C	acceptor_loss	0.9900
14:49586051:T:A	acceptor_loss	0.9900
14:49583673:CAA:C	acceptor_gain	0.9800
14:49586279:TCTCA:T	donor_loss	0.9800
14:49586280:CTCA:C	donor_loss	0.9800
14:49586281:TCAC:T	donor_loss	0.9800
14:49586282:CACCA:C	donor_loss	0.9800
14:49586283:A:AC	donor_gain	0.9800
14:49586284:C:CC	donor_gain	0.9800
14:49583672:CCAA:C	acceptor_gain	0.9700
14:49583673:CAAC:C	acceptor_gain	0.9700
14:49585976:A:AC	donor_gain	0.9700
14:49585977:C:CC	donor_gain	0.9700
14:49585979:G:T	donor_gain	0.9700
14:49586135:C:CA	donor_gain	0.9700
14:49583671:TCCAA:T	acceptor_gain	0.9600
14:49583672:CCAAC:C	acceptor_gain	0.9600

AlphaMissense

364 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:49585956:G:C	F52L	0.999
14:49585956:G:T	F52L	0.999
14:49585958:A:G	F52L	0.999
14:49585957:A:G	F52S	0.998
14:49585983:G:C	F43L	0.998
14:49585983:G:T	F43L	0.998
14:49585985:A:G	F43L	0.998
14:49585984:A:G	F43S	0.997
14:49585994:G:T	R40S	0.996
14:49586285:C:T	C21Y	0.996
14:49586286:A:G	C21R	0.996
14:49585958:A:T	F52I	0.995
14:49585960:C:A	G51V	0.995
14:49585988:A:G	C42R	0.995
14:49585995:G:C	C39W	0.995
14:49585997:A:G	C39R	0.995
14:49586026:C:T	G29D	0.995
14:49586040:A:C	C24W	0.995
14:49586041:C:T	C24Y	0.995
14:49586042:A:G	C24R	0.995
14:49586298:C:G	G17R	0.995
14:49585958:A:C	F52V	0.994
14:49585961:C:G	G51R	0.994
14:49585986:A:C	C42W	0.994
14:49585996:C:T	C39Y	0.994
14:49586005:A:T	L36H	0.994
14:49586026:C:A	G29V	0.994
14:49586049:A:C	C21W	0.994
14:49586285:C:A	C21F	0.994
14:49586303:C:T	G15D	0.994

dbSNP variants (sampled 300 via entrez): RS1000019179 (14:49585426 T>C), RS1000047799 (14:49586174 A>T), RS1000116078 (14:49575121 A>G), RS1000273897 (14:49586903 T>G), RS1000369629 (14:49591121 T>C), RS1000455421 (14:49597152 G>A), RS1000660892 (14:49586537 C>G,T), RS1000721189 (14:49576393 T>G), RS1000798351 (14:49595700 A>C), RS1000890247 (14:49583200 C>G), RS1000926832 (14:49586581 C>A,G,T), RS1001027559 (14:49576259 G>C,T), RS1001140661 (14:49588960 C>A,T), RS1001148263 (14:49591811 A>G), RS1001187452 (14:49586211 C>T)

Disease associations

OMIM: gene MIM:603633 | disease phenotypes: MIM:615909

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 13	Strong	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 13 (MONDO:0014394), Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

65 total (30 of 65 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001524_29	Visceral adipose tissue/subcutaneous adipose tissue ratio	4.000000e-06
GCST001525_30	Visceral fat	5.000000e-06
GCST002037_1	Post-traumatic stress disorder (asjusted for relatedness)	3.000000e-06
GCST002037_17	Post-traumatic stress disorder (asjusted for relatedness)	2.000000e-06
GCST005790_28	Rosacea symptom severity	5.000000e-07
GCST009391_805	Metabolite levels	6.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0009180	rosacea severity measurement
EFO:0010396	sphingomyelin 22:1 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), CHEMBL6066849 (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
8.03	Kd	9.327	nM	CHEMBL5653589
8.03	ED50	9.327	nM	CHEMBL5653589
7.22	IC50	60	nM	MOLIBRESIB
6.97	Kd	107.8	nM	CHEMBL3752910
6.97	ED50	107.8	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

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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149304: Binding affinity to human RPS29 incubated for 45 mins by Kinobead based pull down assay	kd	0.0093	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	2178787: Inhibition of RPS29 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.0600	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149304: Binding affinity to human RPS29 incubated for 45 mins by Kinobead based pull down assay	kd	0.1078	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
sodium arsenite	decreases expression	4
bisphenol A	affects expression, decreases expression	3
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
deoxynivalenol	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
tris(2-butoxyethyl) phosphate	increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
phenanthrene	decreases expression	1
perfluorodecanoic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
clothianidin	increases expression	1
palbociclib	increases expression	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	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)