RPS7

Summary

RPS7 (ribosomal protein S7, HGNC:10440) is a protein-coding gene on chromosome 2p25.3, encoding Small ribosomal subunit protein eS7 (P62081). 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 S7E 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 6201 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 8 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 237 total — 6 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 63
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency emerging evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001011

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10440
Approved symbol	RPS7
Name	ribosomal protein S7
Location	2p25.3
Locus type	gene with protein product
Status	Approved
Aliases	S7, eS7
Ensembl gene	ENSG00000171863
Ensembl biotype	protein_coding
OMIM	603658
Entrez	6201

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 30 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000403564, ENST00000406376, ENST00000407445, ENST00000462576, ENST00000472966, ENST00000479123, ENST00000481006, ENST00000491937, ENST00000645540, ENST00000645674, ENST00000646909, ENST00000647131, ENST00000905977, ENST00000920288, ENST00000920289, ENST00000920290, ENST00000920291, ENST00000920292, ENST00000920293, ENST00000920294, ENST00000920295, ENST00000920296, ENST00000920297, ENST00000920298, ENST00000920299, ENST00000920300, ENST00000920301, ENST00000920302, ENST00000920303, ENST00000920304, ENST00000920305, ENST00000920306, ENST00000920307, ENST00000920308, ENST00000920309

RefSeq mRNA: 1 — MANE Select: NM_001011 NM_001011

CCDS: CCDS1648

Canonical transcript exons

ENST00000645674 — 7 exons

Exon	Start	End
ENSE00001146425	3575592	3575684
ENSE00003564706	3580110	3580260
ENSE00003564998	3577710	3577774
ENSE00003621444	3575817	3575888
ENSE00003691601	3576487	3576630
ENSE00003823682	3575260	3575350
ENSE00003832470	3580805	3580920

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 95.0596 / max 845.8431, expressed in 1821 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18634	56.4797	1809
18635	29.4591	1806
18636	6.1062	1676
18632	1.3592	626
18633	1.0224	556
18637	0.5217	245
18638	0.0829	11
18639	0.0248	6
18640	0.0037	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.94	gold quality
ovary	UBERON:0000992	99.80	gold quality
left ovary	UBERON:0002119	99.80	gold quality
granulocyte	CL:0000094	99.78	gold quality
islet of Langerhans	UBERON:0000006	99.78	gold quality
rectum	UBERON:0001052	99.78	gold quality
right ovary	UBERON:0002118	99.78	gold quality
ventricular zone	UBERON:0003053	99.78	gold quality
lymph node	UBERON:0000029	99.77	gold quality
smooth muscle tissue	UBERON:0001135	99.77	gold quality
ganglionic eminence	UBERON:0004023	99.77	gold quality
skin of abdomen	UBERON:0001416	99.75	gold quality
fallopian tube	UBERON:0003889	99.75	gold quality
thoracic mammary gland	UBERON:0005200	99.75	gold quality
zone of skin	UBERON:0000014	99.74	gold quality
endocervix	UBERON:0000458	99.74	gold quality
placenta	UBERON:0001987	99.74	gold quality
pituitary gland	UBERON:0000007	99.73	gold quality
pancreas	UBERON:0001264	99.73	gold quality
skin of leg	UBERON:0001511	99.73	gold quality
adenohypophysis	UBERON:0002196	99.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.73	gold quality
uterine cervix	UBERON:0000002	99.72	gold quality
prostate gland	UBERON:0002367	99.72	gold quality
tonsil	UBERON:0002372	99.72	gold quality
left testis	UBERON:0004533	99.72	gold quality
body of uterus	UBERON:0009853	99.72	gold quality
omental fat pad	UBERON:0010414	99.72	gold quality
metanephros cortex	UBERON:0010533	99.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.72	gold quality

Single-cell (SCXA)

Detected in 23 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	2858.98
E-CURD-88	yes	59.80
E-CURD-122	yes	58.53
E-MTAB-9221	yes	56.02
E-MTAB-6678	yes	35.85
E-CURD-112	yes	32.28
E-HCAD-13	yes	28.69
E-MTAB-10042	yes	16.72
E-HCAD-35	yes	8.45
E-MTAB-9801	yes	6.08
E-MTAB-11121	no	6659.50
E-MTAB-8559	no	4829.35
E-HCAD-1	no	99.43
E-MTAB-9467	no	57.72
E-MTAB-10553	no	51.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Functional genomics

ClinGen dosage: haploinsufficiency 2 (emerging evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 11)

• S7 binds to MDM2, in vitro and in vivo, and the interaction between MDM2 and S7 leads to modulation of MDM2-p53 binding by forming a ternary complex among MDM2, p53 and S7. (PMID:17310983)
• The study found two ribosomal proteins, RPS7 and RPL13A that interact with the HMG (high-mobility group) box domain of SRY. (PMID:21114473)
• Knockdown of RPS7 resulted in increased expression of P85alpha, P110alpha, and AKT2. (PMID:24244431)
• RPS7 role in cell proliferation in the context of Hepatitis B virus-related hepatocellular carcinoma.SIRT7 trans-represses RPS7 gene in the presence of HBx protein. (PMID:26442981)
• Low expression of RPS7 is associated with colorectal cancer. (PMID:26735579)
• BCCIPbeta interacts with the central basic region in S7 protein and regulates the extraribosomal distribution of S7. (PMID:28510697)
• kinase PIM1 drives cell growth by interfering c-Myc-RPS7-induced ribosomal stress in prostate cancer. (PMID:30247545)
• SMYD2 promotes tumorigenesis and metastasis of lung adenocarcinoma through RPS7. (PMID:33935284)
• Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress. (PMID:35871033)
• Splice-site variant in the RPS7 5’-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia. (PMID:36057918)
• RNA-binding protein RPS7 promotes hepatocellular carcinoma progression via LOXL2-dependent activation of ITGB1/FAK/SRC signaling. (PMID:38326908)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps7	ENSDARG00000042566
mus_musculus	Rps7	ENSMUSG00000061477
drosophila_melanogaster	RpS7	FBGN0039757
caenorhabditis_elegans	rps-7	WBGENE00004476

Protein

Protein identifiers

Small ribosomal subunit protein eS7 — P62081 (reviewed: P62081)

Alternative names: 40S ribosomal protein S7

All UniProt accessions (3): A0A2R8Y623, B5MCP9, P62081

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. Required for rRNA maturation. 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 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. Binds IPO9 with high affinity. Interacts with NEK6. Interacts with DESI2. Interacts with IPO5, IPO7 and KPNB1; these interactions may be involved in RPS7 nuclear import for the assembly of ribosomal subunits.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus. Nucleolus.

Post-translational modifications. Phosphorylated by NEK6. Ubiquitinated. Deubiquitinated by DESI2, leading to its stabilization.

Disease relevance. Diamond-Blackfan anemia 8 (DBA8) [MIM:612563] 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 eS7 family.

RefSeq proteins (1): NP_001002* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000554	Ribosomal_eS7	Family
IPR047861	Ribosomal_eS7_CS	Conserved_site

Pfam: PF01251

UniProt features (31 total): helix 11, strand 9, turn 6, modified residue 2, cross-link 2, chain 1

Structure

Experimental structures (PDB)

212 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-P62081-F1	87.04	0.56

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 (4): 1, 74, 70, 74

Function

Pathways and Gene Ontology

Reactome pathways

51 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-6790901	rRNA modification in the nucleus and cytosol
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

MSigDB gene sets: 512 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, chr2p25, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GRUETZMANN_PANCREATIC_CANCER_DN, GCM_NPM1, MORF_UBE2I, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, HSIAO_HOUSEKEEPING_GENES, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, GOCC_MICROTUBULE_ORGANIZING_CENTER

GO Biological Process (11): neural tube closure (GO:0001843), cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), neural crest cell differentiation (GO:0014033), ribosomal small subunit biogenesis (GO:0042274), positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255), negative regulation of ubiquitin-dependent protein catabolic process (GO:2000059), positive regulation of gene expression (GO:0010628), protein stabilization (GO:0050821), negative regulation of ubiquitin protein ligase activity (GO:1904667)

GO Molecular Function (7): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), structural constituent of ribosome (GO:0003735), protein kinase binding (GO:0019901), mRNA 5’-UTR binding (GO:0048027), ubiquitin ligase inhibitor activity (GO:1990948), protein binding (GO:0005515)

GO Cellular Component (17): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), centrosome (GO:0005813), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), small-subunit processome (GO:0032040), protein-containing complex (GO:0032991), synapse (GO:0045202), ribonucleoprotein complex (GO:1990904), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cap-dependent Translation Initiation	4
Translation	2
rRNA processing in the nucleus and cytosol	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	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
Ribosome-associated quality control	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	3
ribosome biogenesis	2
mRNA binding	2
ribosome	2
intracellular membrane-bounded organelle	2
nuclear lumen	2
cytoplasm	2
primary neural tube formation	1
tube closure	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
mesenchymal cell differentiation	1
stem cell differentiation	1
ribonucleoprotein complex biogenesis	1
intrinsic apoptotic signaling pathway by p53 class mediator	1
positive regulation of signal transduction by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
positive regulation of intrinsic apoptotic signaling pathway	1
ubiquitin-dependent protein catabolic process	1
negative regulation of protein catabolic process	1
regulation of ubiquitin-dependent protein catabolic process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
regulation of protein stability	1
negative regulation of ubiquitin-protein transferase activity	1
ubiquitin protein ligase activity	1
regulation of ubiquitin protein ligase activity	1
nucleic acid binding	1
structural molecule activity	1
kinase binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

289 interactions, top by confidence:

A	B	Type	Score
MDM2	TP53	psi-mi:“MI:0914”(association)	1.000
MDM2	RPS7	psi-mi:“MI:0915”(physical association)	0.820
MDM2	RPS7	psi-mi:“MI:0407”(direct interaction)	0.820
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RIOK1	PRMT5	psi-mi:“MI:0914”(association)	0.710
ZBTB14	RPS7	psi-mi:“MI:0915”(physical association)	0.670
RPS7	RPL5	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
DDX6	MCRIP1	psi-mi:“MI:0914”(association)	0.510
TCF20	RPS7	psi-mi:“MI:0915”(physical association)	0.400
KXD1	RPS7	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (729): RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-Western), ZBTB14 (Two-hybrid), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), RPS7 (Affinity Capture-MS), DDX23 (Co-fractionation), NOL6 (Co-fractionation), RPL10A (Co-fractionation), RPL12 (Co-fractionation)

ESM2 similar proteins: A5JSS2, A6H769, E2RKA8, G1SHQ2, G1SNY0, G1SQH0, G1SVB0, O09167, O14602, P12749, P14115, P18445, P20280, P30742, P41567, P46776, P46778, P47813, P47832, P49171, P49666, P61251, P61254, P61255, P61256, P61257, P62081, P62082, P62083, P62854, P62855, P62856, P62910, P62911, P62912, Q3SZQ6, Q4R723, Q56JV1, Q56K03, Q5E938

Diamond homologs: A6H769, G1SVB0, O43105, P02362, P26786, P33514, P47839, P48155, P48164, P50894, P62081, P62082, P62083, P62084, P62085, Q10101, Q23312, Q54I41, Q5AJ93, Q5RT64, Q8LD03, Q8LJU5, Q90YR7, Q949H0, Q962S0, Q9C514, Q9M885, Q9NB21, Q9VA91, Q9XET4, Q9XH45, Q9ZNS1, A3CEM4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS7	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 194 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
Formation of the ternary complex, and subsequently, the 43S complex	13	19.7×	2e-12
Eukaryotic Translation Initiation	9	19.6×	2e-08
Cap-dependent Translation Initiation	9	19.6×	2e-08
SARS-CoV-1 modulates host translation machinery	9	19.6×	2e-08
Ribosomal scanning and start codon recognition	14	18.8×	5e-13
Eukaryotic Translation Elongation	9	17.6×	4e-08
Translation initiation complex formation	13	17.4×	1e-11
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	9	17.2×	5e-08

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	5	32.3×	5e-05
cytoplasmic translation	20	21.3×	3e-18
stress granule assembly	5	17.3×	1e-03
translational initiation	8	16.5×	7e-06
mRNA stabilization	6	12.6×	1e-03
translation	21	12.4×	2e-14
ribosomal small subunit biogenesis	9	11.8×	2e-05
mitophagy	6	11.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	6
Uncertain significance	95
Likely benign	85
Benign	25

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1031721	NM_001011.4(RPS7):c.75+1G>A	Pathogenic
1753913	NM_001011.4(RPS7):c.65_75+2delinsCTGG	Pathogenic
2697321	NM_001011.4(RPS7):c.-19+1G>T	Pathogenic
2761151	NM_001011.4(RPS7):c.-19+2T>A	Pathogenic
372193	NM_001011.4(RPS7):c.76-1G>T	Pathogenic
6150	NM_001011.4(RPS7):c.147+1G>A	Pathogenic
2500885	NM_001011.4(RPS7):c.65_68del (p.Gly22fs)	Likely pathogenic
2780000	NM_001011.4(RPS7):c.75+1G>T	Likely pathogenic
3654517	NM_001011.4(RPS7):c.399G>C (p.Leu133Phe)	Likely pathogenic
4763762	NM_001011.4(RPS7):c.75+2T>G	Likely pathogenic
692152	NM_001011.4(RPS7):c.508-3T>G	Likely pathogenic
975849	NM_001011.4(RPS7):c.-19+1G>A	Likely pathogenic

SpliceAI

589 predictions. Top by Δscore:

Variant	Effect	Δscore
2:3575346:GCAAG:G	donor_gain	1.0000
2:3575348:AAG:A	donor_loss	1.0000
2:3575349:AGG:A	donor_loss	1.0000
2:3575350:GGTA:G	donor_loss	1.0000
2:3575352:T:G	donor_loss	1.0000
2:3575587:TTCAG:T	acceptor_loss	1.0000
2:3575588:TCAGT:T	acceptor_loss	1.0000
2:3575589:CAG:C	acceptor_loss	1.0000
2:3575590:A:AG	acceptor_gain	1.0000
2:3575591:G:GC	acceptor_gain	1.0000
2:3575591:GT:G	acceptor_gain	1.0000
2:3575591:GTT:G	acceptor_gain	1.0000
2:3575591:GTTC:G	acceptor_gain	1.0000
2:3575591:GTTCT:G	acceptor_gain	1.0000
2:3575683:AGG:A	donor_loss	1.0000
2:3575685:G:GG	donor_gain	1.0000
2:3575811:TCTTA:T	acceptor_loss	1.0000
2:3575812:CTTA:C	acceptor_loss	1.0000
2:3575813:TTA:T	acceptor_loss	1.0000
2:3575815:A:AG	acceptor_gain	1.0000
2:3575816:G:GA	acceptor_gain	1.0000
2:3575884:C:G	donor_gain	1.0000
2:3575889:G:GA	donor_loss	1.0000
2:3575889:G:GG	donor_gain	1.0000
2:3576485:A:AG	acceptor_gain	1.0000
2:3576485:AG:A	acceptor_gain	1.0000
2:3576486:G:GT	acceptor_gain	1.0000
2:3576486:GG:G	acceptor_gain	1.0000
2:3576486:GGA:G	acceptor_gain	1.0000
2:3576486:GGAA:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000030248 (2:3578744 G>A), RS1000082150 (2:3578491 G>C,T), RS1000262838 (2:3573906 G>A,C,T), RS1000282643 (2:3577075 C>G,T), RS1000379540 (2:3575533 A>G,T), RS1001032340 (2:3577363 G>A,C,T), RS1001077740 (2:3577229 G>A,C), RS1001502341 (2:3577719 C>T), RS1002080166 (2:3576220 T>A,G), RS1002222736 (2:3573708 AG>A), RS1002360572 (2:3578464 A>C), RS1003265716 (2:3580392 G>A,C,T), RS1003425472 (2:3574869 A>G), RS1003883134 (2:3578877 A>G), RS1004108406 (2:3574505 C>T)

Disease associations

OMIM: gene MIM:603658 | disease phenotypes: MIM:612563, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 8	Strong	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia 8 (MONDO:0012939), Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

63 total (30 of 63 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000215	Thick upper lip vermilion
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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006666_2	Lipid traits (pleiotropy) (HIPO component 1)	1.000000e-09
GCST90011900_137	Serum alkaline phosphatase levels	2.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
C567253	Diamond-Blackfan Anemia 8 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067572 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

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

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.52	IC50	300	nM	CHEMBL4109308
6.42	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
5.65	Kd	2240	nM	CHEMBL3752910
5.65	ED50	2240	nM	CHEMBL3752910
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
5.16	Kd	6989	nM	CHEMBL5653589
5.16	ED50	6989	nM	CHEMBL5653589
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 215 total; 28 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149315: Binding affinity to human RPS7 incubated for 45 mins by Kinobead based pull down assay	kd	2.2399	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149315: Binding affinity to human RPS7 incubated for 45 mins by Kinobead based pull down assay	kd	6.9890	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
chloropicrin	affects expression, decreases expression	2
bisphenol S	increases expression	2
Air Pollutants	decreases expression, increases abundance, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
moringin	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
beryllium sulfate	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
cupric oxide	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
arsenic trichloride	decreases expression, increases abundance	1
azoxystrobin	increases expression	1
deguelin	increases expression	1
K 7174	decreases expression	1
fenpyroximate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
fenbuconazole	increases expression	1

ChEMBL screening assays

96 unique, capped per target: 96 binding

Representative assays (with source publication via chembl_document):

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

Clinical trials (associated diseases)

38 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)