RCL1

Summary

RCL1 (RNA terminal phosphate cyclase like 1, HGNC:17687) is a protein-coding gene on chromosome 9p24.1, encoding RNA 3’-terminal phosphate cyclase-like protein (Q9Y2P8). As part of the small subunit (SSU) processome, it plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA. It is a common-essential gene (DepMap: required in 96.1% of cancer cell lines).

Predicted to enable RNA endonuclease activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome.

Source: NCBI Gene 10171 — RefSeq curated summary.

At a glance

• GWAS associations: 61
• Clinical variants (ClinVar): 85 total — 5 pathogenic
• Phenotypes (HPO): 1
• Cancer dependency (DepMap): dependent in 96.1% of screened cell lines (common-essential)
• MANE Select transcript: NM_005772

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17687
Approved symbol	RCL1
Name	RNA terminal phosphate cyclase like 1
Location	9p24.1
Locus type	gene with protein product
Status	Approved
Aliases	RPCL1, RNAC
Ensembl gene	ENSG00000120158
Ensembl biotype	protein_coding
OMIM	611405
Entrez	10171

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000381728, ENST00000381730, ENST00000381732, ENST00000381750, ENST00000441844, ENST00000442869, ENST00000445485, ENST00000448872, ENST00000473230

RefSeq mRNA: 4 — MANE Select: NM_005772 NM_001286699, NM_001286700, NM_001286701, NM_005772

CCDS: CCDS6456, CCDS69565, CCDS75810

Canonical transcript exons

ENST00000381750 — 9 exons

Exon	Start	End
ENSE00001027480	4826858	4827033
ENSE00001489717	4860125	4861066
ENSE00001489805	4792944	4793227
ENSE00003488707	4823548	4823619
ENSE00003617996	4833154	4833228
ENSE00003665693	4834141	4834265
ENSE00003762110	4841232	4841357
ENSE00003768685	4844525	4844681
ENSE00003786632	4849447	4849550

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 97.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9248 / max 301.0290, expressed in 1809 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95911	18.8784	1799
95913	1.4236	767
95910	0.8105	505
95914	0.7597	354
95912	0.6675	405
95919	0.2715	19
95921	0.0569	14
95920	0.0567	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.17	gold quality
right lobe of liver	UBERON:0001114	95.99	gold quality
liver	UBERON:0002107	94.72	gold quality
tendon of biceps brachii	UBERON:0008188	92.84	gold quality
calcaneal tendon	UBERON:0003701	91.59	gold quality
tendon	UBERON:0000043	91.06	gold quality
popliteal artery	UBERON:0002250	89.69	gold quality
tibial artery	UBERON:0007610	89.69	gold quality
body of pancreas	UBERON:0001150	89.60	gold quality
cartilage tissue	UBERON:0002418	88.98	gold quality
skin of leg	UBERON:0001511	87.85	gold quality
skin of abdomen	UBERON:0001416	87.78	gold quality
aorta	UBERON:0000947	87.75	gold quality
omental fat pad	UBERON:0010414	87.49	gold quality
peritoneum	UBERON:0002358	87.43	gold quality
adipose tissue of abdominal region	UBERON:0007808	87.31	gold quality
pancreas	UBERON:0001264	86.87	gold quality
left coronary artery	UBERON:0001626	86.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.82	gold quality
descending thoracic aorta	UBERON:0002345	86.81	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.81	gold quality
subcutaneous adipose tissue	UBERON:0002190	86.39	gold quality
bone marrow	UBERON:0002371	86.31	gold quality
zone of skin	UBERON:0000014	86.17	gold quality
left ovary	UBERON:0002119	86.01	gold quality
tibia	UBERON:0000979	85.89	gold quality
connective tissue	UBERON:0002384	85.69	gold quality
bone marrow cell	CL:0002092	85.61	gold quality
coronary artery	UBERON:0001621	85.61	gold quality
adipose tissue	UBERON:0001013	85.59	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	422.29
E-MTAB-9388	yes	7.78
E-ANND-3	yes	6.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting RCL1, 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-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-6806-5P	96.37	68.74	587
HSA-MIR-6858-5P	96.05	64.59	1020

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.1% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 gene segregating with depression across multiple generations. Rs115482041 showed significant association with depressive symptoms (N=2393, betaT-allele=2.33, P-value=1 x 10-4) and explained 2.9% of the estimated genetic variance of depressive symptoms (PMID:28322274)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rcl1	ENSDARG00000038312
mus_musculus	Rcl1	ENSMUSG00000024785
rattus_norvegicus	Rcl1	ENSRNOG00000015491
drosophila_melanogaster	Rtc1	FBGN0020909
caenorhabditis_elegans		WBGENE00022852

Paralogs (1): RTCA (ENSG00000137996)

Protein

Protein identifiers

RNA 3’-terminal phosphate cyclase-like protein — Q9Y2P8 (reviewed: Q9Y2P8)

All UniProt accessions (4): Q9Y2P8, Q5VYW8, Q5VZU2, Q5VZU3

UniProt curated annotations — full annotation on UniProt →

Function. As part of the small subunit (SSU) processome, it plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA. Activates BMS1 by promoting GDP/GTP exchange. Does not have cyclase activity.

Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with BMS1.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the RNA 3’-terminal cyclase family. Type 2 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2P8-1	1	yes
Q9Y2P8-2	2

RefSeq proteins (4): NP_001273628, NP_001273629, NP_001273630, NP_005763* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000228	RNA3’_term_phos_cyc	Family
IPR013791	RNA3’-term_phos_cycl_insert	Domain
IPR013792	RNA3’P_cycl/enolpyr_Trfase_a/b	Homologous_superfamily
IPR016443	RNA3’_term_phos_cyc_type_2	Family
IPR020719	RNA3’_term_phos_cycl-like_CS	Conserved_site
IPR023797	RNA3’_phos_cyclase_dom	Domain
IPR036553	RPTC_insert	Homologous_superfamily
IPR037136	RNA3’_phos_cyclase_dom_sf	Homologous_superfamily

Pfam: PF01137, PF05189

UniProt features (8 total): sequence conflict 5, splice variant 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7MQA	ELECTRON MICROSCOPY	2.7
7MQ8	ELECTRON MICROSCOPY	3.6
7MQ9	ELECTRON MICROSCOPY	3.87

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2P8-F1	93.32	0.90

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 231 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, TSENG_IRS1_TARGETS_UP, TGCGCANK_UNKNOWN, GOMF_NUCLEASE_ACTIVITY, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, WEI_MYCN_TARGETS_WITH_E_BOX, UEDA_PERIFERAL_CLOCK, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, MYCMAX_01

GO Biological Process (6): endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447), endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000479), endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), ribosomal small subunit biogenesis (GO:0042274), RNA processing (GO:0006396), ribosome biogenesis (GO:0042254)

GO Molecular Function (3): RNA endonuclease activity (GO:0004521), catalytic activity (GO:0003824), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	2
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	2
ribonucleoprotein complex biogenesis	2
nuclear lumen	2
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
rRNA processing	1
ribosome biogenesis	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
endonuclease activity	1
RNA nuclease activity	1
molecular_function	1
binding	1
cellular anatomical structure	1
intracellular membraneless organelle	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1
nucleus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2081 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RCL1	BMS1	Q14692	999
RCL1	TSR1	Q2NL82	892
RCL1	UTP20	O75691	823
RCL1	BYSL	Q13895	782
RCL1	UTP14A	Q9BVJ6	772
RCL1	PNO1	Q9NRX1	764
RCL1	RRP12	Q5JTH9	730
RCL1	FCF1	Q9Y324	728
RCL1	PDCD11	Q14690	710
RCL1	NOP14	P78316	691
RCL1	HEATR1	Q9H583	671
RCL1	DDX52	Q9Y2R4	667
RCL1	YWHAH	Q04917	649
RCL1	NOB1	Q9ULX3	649
RCL1	NOP58	Q9Y2X3	643

IntAct

51 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
BMS1	RCL1	psi-mi:“MI:0915”(physical association)	0.690
RCL1	BMS1	psi-mi:“MI:0914”(association)	0.690
RCL1	BMS1	psi-mi:“MI:0915”(physical association)	0.690
GOLGA2	RCL1	psi-mi:“MI:0915”(physical association)	0.560
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
Ncaph	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
TFG	NCOA4	psi-mi:“MI:0914”(association)	0.350
GEMIN7	CSNK1D	psi-mi:“MI:0914”(association)	0.350
PAPD5	UNC119B	psi-mi:“MI:0914”(association)	0.350
Eif3i	CBX4	psi-mi:“MI:0914”(association)	0.350
USF1	MAP3K4	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350
L1TD1	MYO1C	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
GRB10	POLRMT	psi-mi:“MI:0914”(association)	0.350
SH3GL3	RBFOX3	psi-mi:“MI:0914”(association)	0.350
Tagap	PPIH	psi-mi:“MI:0914”(association)	0.350
ARHGAP11A	LTF	psi-mi:“MI:0914”(association)	0.350
CCNT1	CBX4	psi-mi:“MI:0914”(association)	0.350
TIFAB	DDX3X	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350

BioGRID (140): RCL1 (Affinity Capture-RNA), RCL1 (Affinity Capture-RNA), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS)

ESM2 similar proteins: A2RVK7, A6QLJ3, O00442, O04226, O19069, O57656, O65361, P00341, P06801, P08507, P13086, P13697, P18562, P28227, P31754, P32296, P40927, P40939, P48163, P48605, P53596, P53597, Q01415, Q16798, Q29558, Q2HJ88, Q2KHX8, Q3ULJ0, Q4R3J0, Q58DR8, Q5R5V3, Q5R6J8, Q5R7P3, Q5XIZ6, Q6P824, Q801R8, Q8BMF3, Q8C3X4, Q8N335, Q8N442

Diamond homologs: P56175, Q08096, Q09870, Q23400, Q2KHX8, Q54S38, Q9C578, Q9JJT0, Q9Y2P8, B8D680, Q8Y2V6, A2BN21, C5A2A3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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
Major pathway of rRNA processing in the nucleolus and cytosol	6	8.4×	9e-03
Infectious disease	8	4.5×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal small subunit biogenesis	6	25.8×	6e-05
rRNA processing	5	13.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	63
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	Pathogenic
1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	Pathogenic
1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	Pathogenic
3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	Pathogenic
995853	NM_005772.5(RCL1):c.370C>T (p.Gln124Ter)	Pathogenic

SpliceAI

2437 predictions. Top by Δscore:

Variant	Effect	Δscore
9:4793225:GAGGT:G	donor_loss	1.0000
9:4823618:AGGT:A	donor_loss	1.0000
9:4823619:GGTA:G	donor_loss	1.0000
9:4823621:T:G	donor_loss	1.0000
9:4826849:T:TA	acceptor_gain	1.0000
9:4827034:G:GG	donor_gain	1.0000
9:4832217:TGGCA:T	donor_gain	1.0000
9:4834239:A:T	donor_gain	1.0000
9:4834259:G:GT	donor_gain	1.0000
9:4834260:A:T	donor_gain	1.0000
9:4841191:T:A	acceptor_gain	1.0000
9:4841192:G:A	acceptor_gain	1.0000
9:4841353:GGGAA:G	donor_gain	1.0000
9:4841354:GGAA:G	donor_gain	1.0000
9:4841354:GGAAG:G	donor_gain	1.0000
9:4841355:G:GT	donor_gain	1.0000
9:4841355:G:T	donor_gain	1.0000
9:4841355:GAA:G	donor_gain	1.0000
9:4841358:G:GG	donor_gain	1.0000
9:4844680:GG:G	donor_gain	1.0000
9:4844681:GG:G	donor_gain	1.0000
9:4849445:AG:A	acceptor_gain	1.0000
9:4849446:GG:G	acceptor_gain	1.0000
9:4849446:GGGT:G	acceptor_gain	1.0000
9:4849549:AC:A	donor_gain	1.0000
9:4849550:CG:C	donor_loss	1.0000
9:4849551:G:GG	donor_gain	1.0000
9:4849552:TAAGT:T	donor_loss	1.0000
9:4793225:GAG:G	donor_gain	0.9900
9:4823620:G:GG	donor_gain	0.9900

AlphaMissense

2405 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:4834250:G:C	R190P	0.999
9:4841267:G:C	R207P	0.999
9:4844553:G:C	A247P	0.999
9:4844554:C:A	A247D	0.999
9:4793222:T:A	L44H	0.998
9:4823572:T:C	L54P	0.998
9:4834258:G:A	G193R	0.998
9:4834258:G:C	G193R	0.998
9:4834259:G:A	G193E	0.998
9:4844533:G:A	G240D	0.998
9:4844548:T:C	L245P	0.998
9:4844641:G:A	G276D	0.998
9:4793180:T:A	V30D	0.997
9:4826858:G:A	G70E	0.997
9:4826916:T:G	C89W	0.997
9:4834253:T:A	I191N	0.997
9:4841281:G:C	A212P	0.997
9:4841286:G:C	R213S	0.997
9:4841286:G:T	R213S	0.997
9:4841294:T:C	L216P	0.997
9:4844535:T:C	F241L	0.997
9:4844537:T:A	F241L	0.997
9:4844537:T:G	F241L	0.997
9:4844539:G:A	G242E	0.997
9:4844640:G:C	G276R	0.997
9:4844662:T:C	L283P	0.997
9:4860238:G:A	G362D	0.997
9:4823566:T:A	I52K	0.996
9:4826945:T:C	L99P	0.996
9:4826999:T:C	L117P	0.996

dbSNP variants (sampled 300 via entrez): RS1000002375 (9:4823221 A>G), RS1000045818 (9:4856653 C>G,T), RS1000086453 (9:4805386 AAAG>A,AAAGAAG,AAAGAAGAAG), RS1000101938 (9:4849946 A>G), RS1000124662 (9:4860976 G>A,T), RS1000149907 (9:4856218 A>T), RS1000151575 (9:4818929 A>G), RS1000154499 (9:4849757 G>A), RS1000157254 (9:4861185 A>G,T), RS1000217158 (9:4847598 C>A), RS1000258777 (9:4801650 G>A), RS1000261278 (9:4830383 G>T), RS1000274594 (9:4819224 T>A,C), RS1000279646 (9:4854772 G>A), RS1000283053 (9:4835325 C>A,T)

Disease associations

OMIM: gene MIM:611405 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): psychotic disorder (MONDO:0005485)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000709	Psychosis

GWAS associations

61 associations (top):

Study	Trait	p-value
GCST000503_17	Mean corpuscular volume	3.000000e-20
GCST000504_5	Mean corpuscular hemoglobin	2.000000e-14
GCST000580_5	Platelet count	3.000000e-13
GCST000585_4	Mean corpuscular volume	3.000000e-14
GCST000587_2	Mean corpuscular hemoglobin	6.000000e-11
GCST001337_27	Platelet count	1.000000e-29
GCST001765_6	Red blood cell traits	1.000000e-19
GCST001780_3	Mean corpuscular hemoglobin	5.000000e-06
GCST001781_9	Mean corpuscular volume	2.000000e-07
GCST001783_8	Platelet count	1.000000e-06
GCST002186_3	Platelet count	1.000000e-09
GCST003383_10	Platelet count	6.000000e-08
GCST003383_9	Platelet count	5.000000e-06
GCST004004_27	Mean corpuscular volume	1.000000e-11
GCST004004_42	Mean corpuscular volume	5.000000e-23
GCST004006_10	Mean corpuscular hemoglobin	2.000000e-09
GCST004006_34	Mean corpuscular hemoglobin	1.000000e-08
GCST004008_8	Red blood cell count	1.000000e-08
GCST004601_114	Red blood cell count	1.000000e-45
GCST004602_73	Mean corpuscular volume	3.000000e-109
GCST004603_82	Platelet count	1.000000e-122
GCST004603_83	Platelet count	3.000000e-80
GCST004606_5	Eosinophil count	5.000000e-09
GCST004607_174	Plateletcrit	7.000000e-151
GCST004607_175	Plateletcrit	9.000000e-99
GCST004611_40	High light scatter reticulocyte count	5.000000e-10
GCST004612_49	High light scatter reticulocyte percentage of red cells	5.000000e-17
GCST004621_126	Red cell distribution width	3.000000e-20
GCST004628_102	Immature fraction of reticulocytes	8.000000e-49
GCST004630_228	Mean corpuscular hemoglobin	1.000000e-94

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004309	platelet count
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count
EFO:0004842	eosinophil count
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0008343	sex interaction measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects cotreatment, increases methylation, decreases expression, increases expression	4
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	4
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
Estradiol	increases expression	3
Tetrachlorodibenzodioxin	decreases expression	3
Fulvestrant	affects cotreatment, increases methylation, decreases expression	2
Arsenic	affects cotreatment, increases expression, decreases methylation, increases abundance	2
Benzo(a)pyrene	increases expression, increases methylation	2
Tretinoin	decreases expression	2
Aflatoxin B1	affects cotreatment, decreases expression, increases methylation	2
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	affects cotreatment, increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
bisphenol S	affects expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants, Occupational	affects expression	1
Atrazine	decreases expression	1
Clomiphene	decreases expression	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Estrogens	decreases reaction, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00009217	PHASE4	COMPLETED	Treatment of Behavioral Symptoms in Alzheimer’s Disease
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00199940	PHASE4	COMPLETED	Safety And Efficacy Study Of Ziprasidone In Pediatric Psychotic Illness
NCT00202306	PHASE4	COMPLETED	Indicated Prevention of Psychotic Disorders With Low-dose Lithium
NCT00216632	PHASE4	COMPLETED	A Study of Treatment Success in Changing From Olanzapine to Long-acting Injectable Risperidone (RISPERDAL® CONSTA™)
NCT00224302	PHASE4	COMPLETED	Treatment of MDEs During the Course of Psychotic Disorders With Duloxetine
NCT00232349	PHASE4	TERMINATED	Efficacy of Galantamine to Treat Schizophrenia
NCT00246259	PHASE4	COMPLETED	A Trial Comparing Risperidone Long-Acting Injection With Oral Antipsychotic in the Treatment of Early Psychosis
NCT00249171	PHASE4	COMPLETED	A Study of Risperidone in Combination With Lorazepam Compared With Standard Therapy for Emergency Treatment of Schizophrenic Patients
NCT00272597	PHASE4	COMPLETED	Risperidone LA Heathcare Resource Study
NCT00282165	PHASE4	TERMINATED	Efficacy of a Triptan in the Treatment of Hostility and Aggression Among Convicts With a Psychiatric Treatment Order
NCT00299702	PHASE4	COMPLETED	Evaluation of Effectiveness of Risperdal® Consta® Compared to Abilify® Over a Two-year Period in Patients With Schizophrenia
NCT00307203	PHASE4	COMPLETED	Safety and Effectiveness of Sustained Release Bupropion in Treating Individuals With Schizophrenia Who Smoke
NCT00369239	PHASE4	COMPLETED	Treatment With Risperidone Long Acting Injectable (RLAI) in an Early Phase of Psychosis
NCT00417482	PHASE4	COMPLETED	Antipsychotic Discontinuation in Alzheimer’s Disease
NCT00498550	PHASE4	COMPLETED	Treatment of Schizophrenia and Comorbid Cannabis Use Disorder: Comparing Clozapine to Treatment-as-Usual
NCT00535145	PHASE4	COMPLETED	Study to Measure the Safety of Paliperidone ER (Extended-release) in Patients With Liver Disease
NCT00702793	PHASE4	WITHDRAWN	Safety and Tolerability of Varenicline in Schizophrenia (SATOVA)
NCT00786318	PHASE4	WITHDRAWN	Ziprasidone vs Standard Therapy for Agitated Patients in the ED
NCT00806234	PHASE4	COMPLETED	Reducing Weight Gain and Improving Metabolic Function in Children Being Treated With Antipsychotics
NCT00932529	PHASE4	COMPLETED	Use, Effects and Side-effects of Second-generation Antipsychotics in a Naturalistic Setting
NCT00986167	PHASE4	UNKNOWN	Quetiapine Extended Release (XR) for the Management of Psychotic Aggression or Agitation in Adult Acute Psychiatry
NCT01015586	PHASE4	COMPLETED	Treatment of Alcohol Dependence and Comorbid Bipolar Disorder
NCT01119014	PHASE4	COMPLETED	Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis
NCT01119638	PHASE4	COMPLETED	Escitalopram Treatment for BPSD in Alzheimer’s Disease in Comparison to Risperidone
NCT01161277	PHASE4	COMPLETED	Effects of Aripiprazole and Haloperidol on Mesolimbic System Functioning
NCT01279213	PHASE4	COMPLETED	Clozapine/Paliperidone Versus Clozapine/Placebo in Resistant Schizophrenia
NCT01446328	PHASE4	COMPLETED	Bergen Psychosis Project 2 - The Best Intro Study
NCT02213887	PHASE4	WITHDRAWN	Study of the Effects of Pantoprazole on Levels of Prescribed Psychiatric Medications
NCT02286206	PHASE4	WITHDRAWN	Study of the Effect of Dosing on Clozapine Levels
NCT02305823	PHASE4	COMPLETED	Comparative Study of Aripiprazole, Quetiapine and Ziprasidone in the Treatment of First Episode Nonaffective Psychosis
NCT02526030	PHASE4	COMPLETED	Comparative Study of Aripiprazole, Quetiapine and Ziprasidone in Treatment of First Episode Psychosis: 3-year Follow-up
NCT02532491	PHASE4	UNKNOWN	Effectiveness of Second Generation Antipsychotics in First Episode Psychosis Patients: 1-year Follow-up