RPL17

Summary

RPL17 (ribosomal protein L17, HGNC:10307) is a protein-coding gene on chromosome 18q21.1, encoding Large ribosomal subunit protein uL22 (P18621). Component of the large 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 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. 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. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene.

Source: NCBI Gene 6139 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total — 1 likely-pathogenic
• Phenotypes (HPO): 2
• 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_001035006

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10307
Approved symbol	RPL17
Name	ribosomal protein L17
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Aliases	rpL23, L17, uL22
Ensembl gene	ENSG00000265681
Ensembl biotype	protein_coding
OMIM	603661
Entrez	6139

Gene structure

Transcript identifiers

Ensembl transcripts: 51 — 42 protein_coding, 8 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000578528, ENST00000578532, ENST00000578966, ENST00000579248, ENST00000579408, ENST00000579495, ENST00000580210, ENST00000580261, ENST00000580387, ENST00000581091, ENST00000581305, ENST00000581373, ENST00000581741, ENST00000582588, ENST00000582782, ENST00000582935, ENST00000583036, ENST00000583637, ENST00000584364, ENST00000615479, ENST00000615760, ENST00000617346, ENST00000618613, ENST00000618619, ENST00000851991, ENST00000851992, ENST00000851993, ENST00000851994, ENST00000851995, ENST00000851996, ENST00000851997, ENST00000914346, ENST00000914347, ENST00000914348, ENST00000914349, ENST00000914350, ENST00000914351, ENST00000914352, ENST00000914353, ENST00000914354, ENST00000914355, ENST00000914356, ENST00000914357, ENST00000914358, ENST00000914359, ENST00000914360, ENST00000914361, ENST00000914362, ENST00000914363, ENST00000914364, ENST00000962425

RefSeq mRNA: 16 — MANE Select: NM_001035006 NM_000985, NM_001035006, NM_001199340, NM_001199341, NM_001199342, NM_001199343, NM_001199344, NM_001199345, NM_001369555, NM_001369556, NM_001369557, NM_001369558, NM_001369560, NM_001369561, NM_001369562, NM_001369563

CCDS: CCDS45865, CCDS56070, CCDS92461

Canonical transcript exons

ENST00000580261 — 7 exons

Exon	Start	End
ENSE00001703914	49488481	49488566
ENSE00002684790	49492458	49492465
ENSE00003492717	49491532	49491584
ENSE00003696451	49491405	49491445
ENSE00003697238	49490454	49490552
ENSE00003699027	49490793	49490927
ENSE00003789247	49489359	49489550

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0838 / max 265.9175, expressed in 1735 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171914	100.9686	1826
171915	9.8922	1666
171916	7.1917	1497

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	99.93	gold quality
ovary	UBERON:0000992	99.92	gold quality
right ovary	UBERON:0002118	99.92	gold quality
right uterine tube	UBERON:0001302	99.91	gold quality
endometrium	UBERON:0001295	99.90	gold quality
adenohypophysis	UBERON:0002196	99.90	gold quality
pituitary gland	UBERON:0000007	99.89	gold quality
endocervix	UBERON:0000458	99.89	gold quality
left lobe of thyroid gland	UBERON:0001120	99.89	gold quality
body of pancreas	UBERON:0001150	99.89	gold quality
thyroid gland	UBERON:0002046	99.89	gold quality
calcaneal tendon	UBERON:0003701	99.89	gold quality
body of uterus	UBERON:0009853	99.89	gold quality
islet of Langerhans	UBERON:0000006	99.88	gold quality
cerebellum	UBERON:0002037	99.88	gold quality
cerebellar cortex	UBERON:0002129	99.88	gold quality
cerebellar hemisphere	UBERON:0002245	99.88	gold quality
metanephros cortex	UBERON:0010533	99.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.88	gold quality
right lobe of thyroid gland	UBERON:0001119	99.87	gold quality
fundus of stomach	UBERON:0001160	99.87	gold quality
left adrenal gland	UBERON:0001234	99.87	gold quality
pancreas	UBERON:0001264	99.87	gold quality
myometrium	UBERON:0001296	99.87	gold quality
fallopian tube	UBERON:0003889	99.87	gold quality
thoracic mammary gland	UBERON:0005200	99.87	gold quality
lower esophagus	UBERON:0013473	99.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.87	gold quality
left adrenal gland cortex	UBERON:0035825	99.87	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.87	gold quality

Single-cell (SCXA)

Detected in 35 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	3117.44
E-HCAD-1	yes	106.03
E-MTAB-6701	yes	98.61
E-CURD-122	yes	84.68
E-MTAB-9221	yes	55.97
E-CURD-88	yes	55.94
E-CURD-46	yes	50.37
E-HCAD-11	yes	48.92
E-MTAB-8410	yes	43.79
E-MTAB-6678	yes	41.54
E-CURD-112	yes	28.36
E-GEOD-135922	yes	25.84
E-MTAB-9067	yes	25.55
E-HCAD-9	yes	25.42
E-ANND-3	yes	15.00

Regulation

Is transcription factor: no

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• The present study combines an individual-based phenotypic profiling with a transdiagnostic approach and shows that several ribosomal genes including RPL17 is involved in stress vulnerability across nonclinical and clinical conditions. (PMID:30103068)
• An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. (PMID:39088281)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl17	ENSDARG00000057556
drosophila_melanogaster	RpL17	FBGN0029897
caenorhabditis_elegans	rpl-17	WBGENE00004429

Protein

Protein identifiers

Large ribosomal subunit protein uL22 — P18621 (reviewed: P18621)

Alternative names: 60S ribosomal protein L17, 60S ribosomal protein L23, PD-1

All UniProt accessions (10): A0A087WWH0, A0A087WXM6, A0A087WY81, P18621, J3KRB3, J3KRX5, J3KSJ0, J3QLC8, J3QQT2, J3QS96

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Component of the large ribosomal subunit.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in pancreas, lung, colon, cystic duct, gall bladder, kidney and liver. Expressed at high levels in the well differentiated pancreatic tumor cell lines HPAF, COLO 357 and Capan-1, the moderately differentiated pancreatic tumor cell lines T3M-4, AsPc-1 and BxPc-3, the poorly differentiated pancreatic tumor cell line MIA PaCa-2, and the pancreatic tumor cell lines of undefined differentiation status such as SW979. Expressed at lower levels in the poorly differentiated pancreatic tumor cell lines HCG-25 and PANC-1.

Disease relevance. Diamond-Blackfan anemia 22 (DBA22) [MIM:621262] A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA22 is an autosomal dominant form characterized by erythroid maturation failure and skeletal developmental defects. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the universal ribosomal protein uL22 family.

Isoforms (3)

UniProt ID	Names	Canonical?
P18621-1	1	yes
P18621-2	2
P18621-3	3

RefSeq proteins (16): NP_000976, NP_001030178, NP_001186269, NP_001186270, NP_001186271, NP_001186272, NP_001186273, NP_001186274, NP_001356484, NP_001356485, NP_001356486, NP_001356487, NP_001356489, NP_001356490, NP_001356491, NP_001356492 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001063	Ribosomal_uL22	Family
IPR005721	Ribosomal_uL22_euk_arc	Family
IPR018260	Ribosomal_uL22_CS	Conserved_site
IPR036394	Ribosomal_uL22_sf	Homologous_superfamily
IPR057265	Ribosomal_uL22_arc	Family

Pfam: PF00237

UniProt features (7 total): splice variant 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

195 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	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
7OW7	ELECTRON MICROSCOPY	2.4
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
8FKV	ELECTRON MICROSCOPY	2.47
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P18621-F1	91.85	0.81

Function

Pathways and Gene Ontology

Reactome pathways

16 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-72689	Formation of a pool of free 40S subunits
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-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-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
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

MSigDB gene sets: 436 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GGGNRMNNYCAT_UNKNOWN, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION

GO Biological Process (3): cytoplasmic translation (GO:0002181), translation (GO:0006412), RNA processing (GO:0006396)

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

GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), nucleolus (GO:0005730), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	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
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribosome	2
cellular anatomical structure	2
intracellular membraneless organelle	2
translation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
nuclear lumen	1
ribosomal subunit	1
protein-containing complex	1

Protein interactions and networks

STRING

4173 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL17	RPL23	P23131	971
RPL17	RPL5	P46777	656
RPL17	RPL11	P25121	629
RPL17	MRPL22	Q9NWU5	571
RPL17	E9PSI1	E9PSI1	507
RPL17	RPS15	P11174	461
RPL17	RPS17	P08708	450
RPL17	RPS3A	P33443	446
RPL17	RPS11	P04643	436
RPL17	RPL6	Q02878	428
RPL17	RPL26	P61254	428
RPL17	RPL37	P02403	420
RPL17	RPS9	P46781	411
RPL17	FAU	P35544	404
RPL17	MRPL12	P52815	402

IntAct

367 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF71	NVL	psi-mi:“MI:0914”(association)	0.530
NAP1L1	RPL17	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
PPP2R2B	DDX3X	psi-mi:“MI:0914”(association)	0.460
ESR1		psi-mi:“MI:0914”(association)	0.460
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
RPL17	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
RPL17	SPTAN1	psi-mi:“MI:0915”(physical association)	0.400
RPL17	OCIAD2	psi-mi:“MI:0915”(physical association)	0.400
Ctcf	RPL36A	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (832): RPL17 (Affinity Capture-MS), RPL17 (Affinity Capture-MS), RPL17 (Affinity Capture-MS), AHCYL2 (Co-fractionation), GFM2 (Co-fractionation), MRPS7 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation), RPL17 (Co-fractionation)

ESM2 similar proteins: A0NGY0, A2I3Y6, A4FWB7, A6VGY9, A8CAG3, A9A9R0, G1SCJ6, O14339, O48557, O59794, P05740, P06389, P0DJ16, P18621, P24049, P35266, P35267, P37380, P46990, P51413, P62649, Q06R92, Q09JW2, Q0PXV9, Q1HR65, Q29IM3, Q33BZ2, Q3T025, Q4GXH5, Q4GXH6, Q4GXH7, Q4KTG9, Q4N4B9, Q4PM54, Q4UF75, Q54NG2, Q59TE0, Q5I5J1, Q5MGD1, Q5MIR6

Diamond homologs: A0B9W5, A0NGY0, A0RVX8, A1RVA1, A1RXG7, A1SNL3, A2BMC4, A2I3Y6, A2SPK8, A3CT02, A3DNB2, A3MTL6, A4FWB7, A4WIY9, A4YCX1, A5UL84, A6UQ48, A6UWU2, A6VGY9, A7I5P4, A8AA19, A8CAG3, A8MBL4, A9A5J0, A9A9R0, B1YD24, B4U505, B4U749, C0M7R4, G1SCJ6, O14339, O26115, O28359, O48557, O59423, O59794, P05740, P0C0D4, P0DE22, P0DJ16

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL17	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 189 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
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	19	17.9×	1e-16
SRP-dependent cotranslational protein targeting to membrane	22	17.6×	4e-19
Eukaryotic Translation Termination	18	17.3×	9e-16
Peptide chain elongation	17	17.3×	3e-15
Viral mRNA Translation	17	17.3×	3e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	17	17.1×	3e-15
Selenocysteine synthesis	17	16.4×	7e-15
Formation of a pool of free 40S subunits	18	16.1×	2e-15

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	20	23.0×	4e-19
ribosomal large subunit biogenesis	8	22.0×	5e-07
stress granule assembly	5	18.7×	7e-04
translation	24	15.3×	4e-19
rRNA processing	16	14.1×	8e-12
translational initiation	6	13.4×	7e-04
negative regulation of translation	10	12.2×	2e-06
regulation of signal transduction by p53 class mediator	5	11.9×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	22
Likely benign	16
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	Likely pathogenic

SpliceAI

1845 predictions. Top by Δscore:

Variant	Effect	Δscore
17:38850356:TCCTA:T	donor_loss	1.0000
17:38850357:CCTA:C	donor_loss	1.0000
17:38850358:CTA:C	donor_loss	1.0000
17:38850359:TA:T	donor_loss	1.0000
17:38850360:A:AT	donor_loss	1.0000
17:38850361:C:T	donor_loss	1.0000
17:38850471:ATGTA:A	acceptor_gain	1.0000
17:38850472:TGTA:T	acceptor_gain	1.0000
17:38850473:GTA:G	acceptor_gain	1.0000
17:38850474:TA:T	acceptor_gain	1.0000
17:38850476:C:CC	acceptor_gain	1.0000
17:38850476:C:T	acceptor_loss	1.0000
17:38852601:CAC:C	donor_loss	1.0000
17:38852602:A:AC	donor_gain	1.0000
17:38852602:AC:A	donor_gain	1.0000
17:38852602:ACC:A	donor_gain	1.0000
17:38852603:C:A	donor_gain	1.0000
17:38852603:C:CC	donor_gain	1.0000
17:38852603:CCC:C	donor_gain	1.0000
17:38852603:CCCT:C	donor_gain	1.0000
17:38852603:CCCTT:C	donor_gain	1.0000
17:38852728:GGCTC:G	acceptor_gain	1.0000
17:38852729:GCTC:G	acceptor_gain	1.0000
17:38852730:CTC:C	acceptor_gain	1.0000
17:38852730:CTCC:C	acceptor_gain	1.0000
17:38852731:TC:T	acceptor_gain	1.0000
17:38852731:TCCT:T	acceptor_gain	1.0000
17:38852732:CC:C	acceptor_gain	1.0000
17:38852732:CCTAC:C	acceptor_loss	1.0000
17:38852733:C:CC	acceptor_gain	1.0000

AlphaMissense

1209 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:49489434:G:C	C144W	1.000
18:49489435:C:T	C144Y	1.000
18:49489436:A:G	C144R	1.000
18:49489465:C:A	G134V	1.000
18:49489465:C:T	G134D	1.000
18:49489466:C:A	G134C	1.000
18:49489466:C:G	G134R	1.000
18:49489469:G:C	H133D	1.000
18:49489471:G:T	A132D	1.000
18:49489473:T:A	R131S	1.000
18:49489473:T:G	R131S	1.000
18:49489474:C:A	R131I	1.000
18:49489474:C:G	R131T	1.000
18:49489487:G:T	R127S	1.000
18:49489531:A:G	L112P	1.000
18:49490464:G:T	A102D	1.000
18:49490465:C:G	A102P	1.000
18:49490522:A:G	W83R	1.000
18:49490522:A:T	W83R	1.000
18:49490527:C:T	G81D	1.000
18:49490528:C:G	G81R	1.000
18:49490803:C:A	R69M	1.000
18:49490866:A:G	L48P	1.000
18:49490911:G:T	A33D	1.000
18:49490918:C:T	E31K	1.000
18:49489417:A:G	L150P	0.999
18:49489417:A:T	L150H	0.999
18:49489426:T:A	E147V	0.999
18:49489427:C:T	E147K	0.999
18:49489431:G:C	H145Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000261753 (18:49488623 G>A), RS1000314483 (18:49488255 A>T), RS1000701955 (18:49492482 A>G), RS1000813008 (18:49492437 C>A,T), RS1001163459 (18:49492530 A>T), RS1001237844 (18:49492188 C>G,T), RS1001704327 (18:49492884 A>G), RS1003263502 (18:49488658 G>A,C,T), RS1003504134 (18:49492507 A>G), RS1003669680 (18:49491177 A>G), RS1004231534 (18:49492179 A>C), RS1004393866 (18:49491018 T>C,G), RS1004461199 (18:49492014 G>A), RS1004731249 (18:49492201 C>G), RS1004788738 (18:49490658 A>G)

Disease associations

OMIM: gene MIM:603661 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (5): pancytopenia (MONDO:0001529), macrocytic anemia (MONDO:0002281), fetal growth restriction (MONDO:0005030), autism (MONDO:0005260), attention deficit-hyperactivity disorder (MONDO:0007743)

Orphanet (0):

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0001972	Macrocytic anemia
HP:0000717	Autism

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007692_2	Chronic obstructive pulmonary disease	1.000000e-08

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000748	Anemia, Macrocytic	C15.378.050.252
D001321	Autistic Disorder	F03.625.164.113.500
D005317	Fetal Growth Retardation	C12.050.703.277.370; C16.300.390; C23.550.393.450
D010198	Pancytopenia	C15.378.243.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6066947 (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

48 potent at pChembl≥5 of 54 total, top 47 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
5.64	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
5.18	Kd	6615	nM	CHEMBL3752910
5.18	ED50	6615	nM	CHEMBL3752910
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

47 with measured affinity, of 209 total; 27 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
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149247: Binding affinity to human RPL17 incubated for 45 mins by Kinobead based pull down assay	kd	6.6146	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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, affects expression	5
sodium arsenite	increases activity, decreases expression	3
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
bisphenol S	decreases methylation, increases expression	2
Arsenic Trioxide	decreases expression, increases expression	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Caffeine	decreases phosphorylation, increases expression	2
Doxorubicin	affects expression, decreases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Smoke	decreases expression, increases abundance	2
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
arsenite	affects binding, increases reaction	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
perfluorooctanoic acid	increases expression	1
epigallocatechin gallate	increases expression	1
arsenic disulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	increases expression	1
chloropicrin	decreases expression	1
deguelin	increases expression	1
calfactant	affects cotreatment, increases expression	1
fenpyroximate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	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)

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

Trial	Phase	Status	Title
NCT00347867	PHASE4	UNKNOWN	Viagra for the Treatment of IUGR
NCT00909974	PHASE4	COMPLETED	Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01390051	PHASE4	COMPLETED	Can Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight?
NCT01695070	PHASE4	COMPLETED	Melatonin to Prevent Brain Injury in Unborn Growth Restricted Babies
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT05029778	PHASE4	UNKNOWN	Arginine + Citrulline as a Supplement for Weight Gain in Fetus With a Decrease in Their Growth Curve
NCT05800938	PHASE4	COMPLETED	The Effect of Oral Isosorbide Mononitrate Therapy on Umbilical Artery Doppler Resistance Index in Pregnancies With Intrauterine Growth Restriction: Prospective Randomized Control Trial
NCT07171086	PHASE4	NOT_YET_RECRUITING	AI-POCUS for Maternal and Neonatal Health in Ethiopia
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00000597	PHASE3	COMPLETED	Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders