NOL9

Summary

NOL9 (nucleolar protein 9, HGNC:26265) is a protein-coding gene on chromosome 1p36.31, encoding Polynucleotide 5’-hydroxyl-kinase NOL9 (Q5SY16). Polynucleotide kinase that can phosphorylate the 5’-hydroxyl groups of single-stranded and double-stranded RNA and DNA substrates. It is a common-essential gene (DepMap: required in 96.5% of cancer cell lines).

Enables ATP-dependent polydeoxyribonucleotide 5’-hydroxyl-kinase activity. Involved in maturation of 5.8S rRNA. Located in intermediate filament cytoskeleton and nucleolus.

Source: NCBI Gene 79707 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 110 total
• Cancer dependency (DepMap): dependent in 96.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_024654

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26265
Approved symbol	NOL9
Name	nucleolar protein 9
Location	1p36.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23323, NET6, Grc3
Ensembl gene	ENSG00000162408
Ensembl biotype	protein_coding
OMIM	620304
Entrez	79707

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 4 retained_intron

ENST00000377705, ENST00000460777, ENST00000462798, ENST00000464383, ENST00000464665, ENST00000870262, ENST00000870263, ENST00000870264, ENST00000870265, ENST00000925477, ENST00000925478

RefSeq mRNA: 1 — MANE Select: NM_024654 NM_024654

CCDS: CCDS80

Canonical transcript exons

ENST00000377705 — 12 exons

Exon	Start	End
ENSE00001064890	6531968	6532079
ENSE00001064892	6528994	6529171
ENSE00001064898	6526696	6526829
ENSE00001338647	6544826	6544922
ENSE00001338652	6545045	6545180
ENSE00001338657	6549571	6549698
ENSE00001338662	6550396	6550615
ENSE00001474901	6521347	6526003
ENSE00001474918	6554107	6554513
ENSE00003636600	6541830	6541927
ENSE00003643469	6533280	6533441
ENSE00003686079	6532463	6532760

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 89.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.2830 / max 291.8799, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10055	33.2573	1816
10056	0.0258	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	89.40	gold quality
medial globus pallidus	UBERON:0002477	88.34	gold quality
nipple	UBERON:0002030	87.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.01	gold quality
oviduct epithelium	UBERON:0004804	86.87	gold quality
deltoid	UBERON:0001476	86.38	gold quality
adrenal tissue	UBERON:0018303	86.25	gold quality
globus pallidus	UBERON:0001875	86.24	gold quality
biceps brachii	UBERON:0001507	86.04	gold quality
quadriceps femoris	UBERON:0001377	85.93	gold quality
periodontal ligament	UBERON:0008266	85.93	gold quality
blood vessel layer	UBERON:0004797	85.64	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.50	gold quality
vastus lateralis	UBERON:0001379	85.39	gold quality
ileal mucosa	UBERON:0000331	85.25	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.17	gold quality
cardia of stomach	UBERON:0001162	85.16	gold quality
hair follicle	UBERON:0002073	85.13	gold quality
upper leg skin	UBERON:0004262	84.92	gold quality
saphenous vein	UBERON:0007318	84.80	gold quality
skeletal muscle tissue	UBERON:0001134	84.73	gold quality
layer of synovial tissue	UBERON:0007616	84.62	gold quality
secondary oocyte	CL:0000655	84.60	gold quality
myocardium	UBERON:0002349	84.51	gold quality
middle temporal gyrus	UBERON:0002771	84.49	gold quality
endothelial cell	CL:0000115	84.46	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.32	gold quality
adult organism	UBERON:0007023	84.30	gold quality
CA1 field of hippocampus	UBERON:0003881	84.27	gold quality
urethra	UBERON:0000057	84.24	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

116 targeting NOL9, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3941	99.86	70.54	2735

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• The polynucleotide kinase activity of Nol9 is required for efficient generation of the 5.8S and 28S ribosomal RNAs from the 32S precursor. (PMID:21063389)
• we present the nol9sa1022/sa1022 mutant, a novel zebrafish ribosomopathy model, which recapitulates key human disease characteristics. (PMID:26624285)
• a Nol9-encoded nucleolar localization sequence that is responsible for nucleolar transport of the assembled Las1L-Nol9 complex, is reported. (PMID:31288032)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nol9	ENSDARG00000077751
mus_musculus	Nol9	ENSMUSG00000028948
rattus_norvegicus	Nol9	ENSRNOG00000010109
drosophila_melanogaster	CG8414	FBGN0034073
caenorhabditis_elegans		WBGENE00010709

Paralogs (1): CLP1 (ENSG00000172409)

Protein

Protein identifiers

Polynucleotide 5’-hydroxyl-kinase NOL9 — Q5SY16 (reviewed: Q5SY16)

Alternative names: Nucleolar protein 9

All UniProt accessions (1): Q5SY16

UniProt curated annotations — full annotation on UniProt →

Function. Polynucleotide kinase that can phosphorylate the 5’-hydroxyl groups of single-stranded and double-stranded RNA and DNA substrates. Involved in rRNA processing and its kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. Required for the efficient pre-rRNA processing of internal transcribed spacer 2 (ITS2). Associates with LAS1L to form an ITS2 pre-rRNA endonuclease-kinase complex and is responsible for the transport of this complex into the nucleolus.

Subunit / interactions. Interacts with PELP1, WDR18 and SENP3. Interacts with LAS1L to form an ITS2 pre-rRNA endonuclease-kinase complex.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the Clp1 family. NOL9/GRC3 subfamily.

RefSeq proteins (1): NP_078930* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR032319	CLP1_P	Domain
IPR045116	Clp1/Grc3	Family
IPR057570	NOL9_C	Domain
IPR057573	NOL9_N	Domain

Pfam: PF16575, PF24419, PF25467

Catalyzed reactions (Rhea), 2 shown:

• a 5’-end dephospho-2’-deoxyribonucleoside-DNA + ATP = a 5’-end 5’-phospho-2’-deoxyribonucleoside-DNA + ADP + H(+) (RHEA:15669)
• a 5’-end dephospho-ribonucleoside-RNA + ATP = a 5’-end 5’-phospho-ribonucleoside-RNA + ADP + H(+) (RHEA:54580)

UniProt features (19 total): sequence variant 4, region of interest 3, compositionally biased region 3, modified residue 2, mutagenesis site 2, initiator methionine 1, chain 1, cross-link 1, short sequence motif 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9DUN	ELECTRON MICROSCOPY	3.32
26LK	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SY16-F1	77.74	0.54

Functional residue map

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

Ligand- & substrate-binding residues (1): 306–313

Post-translational modifications (3): 2, 487, 485

Mutagenesis-validated functional residues (2):

Position	Phenotype
312	abolishes kinase activity and rrna processing.
313	abolishes kinase activity and rrna processing.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 138 (showing top): GOBP_RIBOSOME_BIOGENESIS, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, CAGCTG_AP4_Q5, CEBP_Q2, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, AML_Q6, GOBP_MATURATION_OF_LSU_RRNA, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_MATURATION_OF_5_8S_RRNA, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, REACTOME_METABOLISM_OF_RNA

GO Biological Process (4): cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000448), maturation of 5.8S rRNA (GO:0000460), rRNA processing (GO:0006364), RNA processing (GO:0006396)

GO Molecular Function (9): RNA binding (GO:0003723), ATP binding (GO:0005524), ATP-dependent polydeoxyribonucleotide 5’-hydroxyl-kinase activity (GO:0046404), polynucleotide 5’-hydroxyl-kinase activity (GO:0051731), ATP-dependent polyribonucleotide 5’-hydroxyl-kinase activity (GO:0051736), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), membrane (GO:0016020), intermediate filament cytoskeleton (GO:0045111)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent polynucleotide 5’-hydroxyl-kinase activity	2
nuclear lumen	2
cellular anatomical structure	2
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
rRNA processing	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
nucleic acid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphotransferase activity, alcohol group as acceptor	1
nucleobase-containing compound kinase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
cytoskeleton	1

Protein interactions and networks

STRING

1684 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NOL9	NCBP1	Q09161	810
NOL9	MDN1	Q9NU22	754
NOL9	WDR18	Q9BV38	744
NOL9	LAS1L	Q9Y4W2	729
NOL9	TEX10	Q9NXF1	678
NOL9	URB1	O60287	646
NOL9	NCBP2	P52298	641
NOL9	ZBTB48	P10074	626
NOL9	PDCD11	Q14690	616
NOL9	WDR36	Q8NI36	589
NOL9	RBM34	P42696	565
NOL9	PPAN	Q9NQ55	552
NOL9	UTP20	O75691	549
NOL9	PNKP	Q96T60	547
NOL9	DDX51	Q8N8A6	541

IntAct

91 interactions, top by confidence:

A	B	Type	Score
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NOL9	SENP3	psi-mi:“MI:0914”(association)	0.640
NOL9	TCF4	psi-mi:“MI:0915”(physical association)	0.560
NOL9	REL	psi-mi:“MI:0915”(physical association)	0.560
NOL9	AHNAK	psi-mi:“MI:0915”(physical association)	0.560
TCF4	NOL9	psi-mi:“MI:0915”(physical association)	0.560
WDR18	NOL9	psi-mi:“MI:0914”(association)	0.530
NOL9	IPO5	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
PPP5C	NOL9	psi-mi:“MI:0915”(physical association)	0.500
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
Faap100	CDKN2A	psi-mi:“MI:0914”(association)	0.350
Mllt1	ELL2	psi-mi:“MI:0914”(association)	0.350
Kif19		psi-mi:“MI:0914”(association)	0.350
FYCO1	PPL	psi-mi:“MI:0914”(association)	0.350
Samhd1	MRPL4	psi-mi:“MI:0914”(association)	0.350
FOXL1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXQ1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
DDX41	DDX39A	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (200): NOL9 (Two-hybrid), NOL9 (Two-hybrid), NOL9 (Two-hybrid), NOL9 (Affinity Capture-MS), NOL9 (Affinity Capture-MS), NOL9 (Reconstituted Complex), NOL9 (Affinity Capture-MS), NOL9 (Affinity Capture-MS), NOL9 (Affinity Capture-MS), NOL9 (Co-fractionation), NOL9 (Co-fractionation), NOL9 (Co-fractionation), NOL9 (Co-fractionation), NOL9 (Affinity Capture-MS), NOL9 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIF8, A0JN92, A1Z198, A6H603, B1ARD6, B1ARD8, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E1BPN0, G1SRW8, O02799, P0C7P3, P52630, Q08AF3, Q0GKD5, Q0P3U3, Q149M9, Q1LXZ7, Q1LZ50, Q2LKU9, Q2LKV5, Q2LKW6, Q32KW9, Q5I0J8, Q5NCI0, Q5RCZ8, Q5RFJ8, Q5SY16, Q5U311, Q60766, Q63035, Q68D06, Q6AYC2, Q6AYF9, Q6IEE8, Q6NXR0, Q7Z7L1

Diamond homologs: A1CFB5, A1CYR9, A2QNQ8, E1BPN0, E7F654, P0CM79, Q0CKU1, Q2U0C4, Q3TZX8, Q4IR18, Q4WID9, Q54Z27, Q5B4D1, Q5SY16, Q8VYP6, A1CB93, A1DE49, A2VE01, A6S936, A7RG82, A8PB32, A8X9U4, B0CS49, B0VZR4, B0Y0Y6, B3MGZ0, B3NRK6, B4GGT6, B4HQJ2, B4JVN0, B4KML2, B4MCL6, B4MRZ9, B4P4H2, B4QEE3, E7F3I6, P52874, Q0CEZ9, Q0U2G5, Q10299

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NOL9	“form complex”	“Rix1 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 113 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
rRNA processing in the nucleus and cytosol	6	13.0×	2e-03
rRNA processing	6	11.9×	2e-03
Influenza Infection	5	11.9×	6e-03
Major pathway of rRNA processing in the nucleolus and cytosol	12	10.0×	1e-06
mRNA Splicing - Major Pathway	8	5.9×	6e-03
Metabolism of RNA	10	5.6×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal small subunit biogenesis	6	14.7×	1e-03
rRNA processing	9	13.7×	1e-05

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	80
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2152 predictions. Top by Δscore:

Variant	Effect	Δscore
1:6525776:C:CA	donor_gain	1.0000
1:6525832:T:TA	donor_gain	1.0000
1:6525833:C:A	donor_gain	1.0000
1:6525859:T:TA	donor_gain	1.0000
1:6525878:A:AC	donor_gain	1.0000
1:6525878:AGGT:A	donor_gain	1.0000
1:6525879:G:C	donor_gain	1.0000
1:6532509:T:C	donor_gain	1.0000
1:6532532:A:C	donor_gain	1.0000
1:6533275:CTTA:C	donor_loss	1.0000
1:6533278:ACCT:A	donor_loss	1.0000
1:6533279:C:CG	donor_loss	1.0000
1:6533437:TGGTC:T	acceptor_gain	1.0000
1:6533438:GGTC:G	acceptor_gain	1.0000
1:6533439:GTC:G	acceptor_gain	1.0000
1:6533440:TC:T	acceptor_gain	1.0000
1:6533441:CC:C	acceptor_gain	1.0000
1:6533442:C:CC	acceptor_gain	1.0000
1:6549572:T:TA	donor_gain	1.0000
1:6550432:C:A	donor_gain	1.0000
1:6554102:CCTA:C	donor_loss	1.0000
1:6554103:CTA:C	donor_loss	1.0000
1:6554104:TA:T	donor_loss	1.0000
1:6554105:A:AT	donor_loss	1.0000
1:6554106:CCTG:C	donor_gain	1.0000
1:6525853:A:AC	donor_gain	0.9900
1:6525874:A:C	donor_gain	0.9900
1:6525902:ATGTG:A	donor_gain	0.9900
1:6525909:T:TA	donor_gain	0.9900
1:6526002:CG:C	acceptor_gain	0.9900

AlphaMissense

4541 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:6526742:A:G	L638P	0.998
1:6526744:A:C	C637W	0.998
1:6526746:A:G	C637R	0.998
1:6526829:C:T	G609D	0.998
1:6529076:G:C	C581W	0.998
1:6529078:A:G	C581R	0.998
1:6529080:A:G	L580P	0.998
1:6529080:A:T	L580H	0.998
1:6529155:A:T	V555D	0.998
1:6529170:A:T	V550D	0.998
1:6532703:A:T	V432D	0.998
1:6541898:T:A	D336V	0.998
1:6526739:A:G	L639P	0.997
1:6526794:A:C	Y621D	0.997
1:6533303:A:T	V405D	0.997
1:6544886:C:T	G306E	0.997
1:6526760:A:G	L632P	0.996
1:6528994:C:G	G609R	0.996
1:6529000:C:G	G607R	0.996
1:6529006:A:G	C605R	0.996
1:6529077:C:T	C581Y	0.996
1:6529080:A:C	L580R	0.996
1:6529083:C:T	G579D	0.996
1:6529090:A:G	W577R	0.996
1:6529090:A:T	W577R	0.996
1:6529128:A:T	V564D	0.996
1:6532727:C:G	R424P	0.996
1:6532733:A:G	L422P	0.996
1:6533292:C:G	G409R	0.996
1:6533292:C:T	G409R	0.996

dbSNP variants (sampled 300 via entrez): RS1000029656 (1:6526543 CG>C), RS1000090635 (1:6532366 A>T), RS1000147584 (1:6532699 C>G), RS1000161554 (1:6536157 T>C,G), RS1000322475 (1:6544098 C>T), RS1000367837 (1:6543542 C>T), RS1000394092 (1:6539018 G>C), RS1000400078 (1:6526265 T>C), RS1000633776 (1:6527204 G>A), RS1000658602 (1:6543084 G>T), RS1000728168 (1:6527518 G>A), RS1000850745 (1:6526470 C>T), RS1000989195 (1:6533045 C>A,T), RS1000997614 (1:6553836 T>C), RS1001121862 (1:6549172 G>A)

Disease associations

OMIM: gene MIM:620304 | disease phenotypes: MIM:607872

GenCC curated gene-disease

Mondo (1): chromosome 1p36 deletion syndrome (MONDO:0011929)

Orphanet (1): 1p36 deletion syndrome (Orphanet:1606)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002783_596	Body mass index	8.000000e-06
GCST90002391_53	Mean corpuscular hemoglobin concentration	2.000000e-10
GCST90002397_169	Mean spheric corpuscular volume	9.000000e-18
GCST90002404_451	Red cell distribution width	3.000000e-10
GCST90002405_589	Reticulocyte count	4.000000e-13
GCST90002406_128	Reticulocyte fraction of red cells	1.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0009188	Red cell distribution width
EFO:0007986	reticulocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535362	Chromosome 1p36 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression, increases expression	3
bisphenol A	decreases expression	2
sodium arsenite	decreases expression, increases abundance, increases expression	2
Valproic Acid	increases expression, affects expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
cylindrospermopsin	increases expression	1
monomethylarsonous acid	increases expression	1
bisphenol B	increases expression	1
Sunitinib	increases expression	1
Norethindrone Acetate	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Coal	decreases expression, increases abundance	1
Diethylstilbestrol	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression, increases abundance	1
T-2 Toxin	increases expression	1
Thiram	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)