DXO

Summary

DXO (decapping exoribonuclease, HGNC:2992) is a protein-coding gene on chromosome 6p21.33, encoding Decapping and exoribonuclease protein (O77932). Decapping enzyme for NAD-capped RNAs: specifically hydrolyzes the nicotinamide adenine dinucleotide (NAD) cap from a subset of RNAs by removing the entire NAD moiety from the 5’-end of an NAD-capped RNA.

This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene.

Source: NCBI Gene 1797 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_005510

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2992
Approved symbol	DXO
Name	decapping exoribonuclease
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	DOM3L
Ensembl gene	ENSG00000204348
Ensembl biotype	protein_coding
OMIM	605996
Entrez	1797

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 13 protein_coding, 7 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000337523, ENST00000375349, ENST00000375356, ENST00000460058, ENST00000473976, ENST00000474587, ENST00000477826, ENST00000478221, ENST00000480240, ENST00000485557, ENST00000487914, ENST00000491327, ENST00000492946, ENST00000495340, ENST00000498357, ENST00000858708, ENST00000858709, ENST00000858710, ENST00000858711, ENST00000913334, ENST00000913335, ENST00000913336, ENST00000968292, ENST00000968293

RefSeq mRNA: 3 — MANE Select: NM_005510 NM_001371205, NM_001371206, NM_005510

CCDS: CCDS4732

Canonical transcript exons

ENST00000337523 — 7 exons

Exon	Start	End
ENSE00001783226	31970606	31970825
ENSE00001786003	31971320	31971681
ENSE00001950389	31971929	31972138
ENSE00003515583	31970912	31971147
ENSE00003544738	31969815	31970024
ENSE00003618801	31970109	31970203
ENSE00003652569	31970343	31970478

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 94.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9344 / max 157.4496, expressed in 1791 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72873	4.5302	1511
72876	3.4228	1575
72875	2.8097	1453
72874	1.7484	1140
72872	1.5071	554
203953	0.9539	681
72877	0.3404	141
72867	0.3006	114
72871	0.2419	98
72868	0.0795	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	94.95	gold quality
right testis	UBERON:0004534	94.65	gold quality
testis	UBERON:0000473	94.43	gold quality
pituitary gland	UBERON:0000007	94.32	gold quality
adenohypophysis	UBERON:0002196	93.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.40	gold quality
left adrenal gland cortex	UBERON:0035825	93.07	gold quality
cerebellar hemisphere	UBERON:0002245	92.96	gold quality
cerebellar cortex	UBERON:0002129	92.94	gold quality
cerebellum	UBERON:0002037	92.93	gold quality
right lobe of liver	UBERON:0001114	92.85	gold quality
right adrenal gland	UBERON:0001233	92.80	gold quality
left adrenal gland	UBERON:0001234	92.60	gold quality
right adrenal gland cortex	UBERON:0035827	92.45	gold quality
left ovary	UBERON:0002119	92.27	gold quality
adrenal gland	UBERON:0002369	91.83	gold quality
right ovary	UBERON:0002118	91.72	gold quality
ovary	UBERON:0000992	91.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.02	gold quality
left uterine tube	UBERON:0001303	90.81	gold quality
left lobe of thyroid gland	UBERON:0001120	90.77	gold quality
right lobe of thyroid gland	UBERON:0001119	90.71	gold quality
thyroid gland	UBERON:0002046	90.36	gold quality
prostate gland	UBERON:0002367	90.05	gold quality
body of uterus	UBERON:0009853	89.98	gold quality
spleen	UBERON:0002106	89.94	gold quality
apex of heart	UBERON:0002098	89.90	gold quality
metanephros cortex	UBERON:0010533	89.70	gold quality
body of stomach	UBERON:0001161	89.42	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.54

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Study showed that DXO is a multifunctional enzyme that possesses both decapping and 5’-3’ exoribonuclease activities toward non-2’-O-methylated RNA transcripts. DXO is directly involved in the mRNA quality control mechanism by degrading mRNAs with abnormal cap structures. (PMID:29601584)
• DOM3Z limits both miR-122-dependent and miR-122-independent Hepatitis C RNA accumulation. (PMID:29672716)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	DXO	ENSDARG00000036852
mus_musculus	Dxo	ENSMUSG00000040482
rattus_norvegicus	Dxo	ENSRNOG00000000422
drosophila_melanogaster	Rai1	FBGN0030793
drosophila_melanogaster	cuff	FBGN0260932
caenorhabditis_elegans	dom-3	WBGENE00001050
caenorhabditis_elegans		WBGENE00008561
caenorhabditis_elegans	M01G12.7	WBGENE00010821
caenorhabditis_elegans	M01G12.14	WBGENE00010825
caenorhabditis_elegans	Y47H10A.3	WBGENE00012959
caenorhabditis_elegans	Y47H10A.4	WBGENE00012960
caenorhabditis_elegans	Y47H10A.5	WBGENE00012961
caenorhabditis_elegans		WBGENE00045308
caenorhabditis_elegans		WBGENE00045401

Protein

Protein identifiers

Decapping and exoribonuclease protein — O77932 (reviewed: O77932)

Alternative names: 5’-3’ exoribonuclease DXO, Dom-3 homolog Z, NAD-capped RNA hydrolase DXO

All UniProt accessions (4): O77932, A0A024RCW8, F8WC68, H7C5D2

UniProt curated annotations — full annotation on UniProt →

Function. Decapping enzyme for NAD-capped RNAs: specifically hydrolyzes the nicotinamide adenine dinucleotide (NAD) cap from a subset of RNAs by removing the entire NAD moiety from the 5’-end of an NAD-capped RNA. The NAD-cap is present at the 5’-end of some RNAs and snoRNAs. In contrast to the canonical 5’-end N7 methylguanosine (m7G) cap, the NAD cap promotes mRNA decay. Preferentially acts on NAD-capped transcripts in response to environmental stress. Also acts as a non-canonical decapping enzyme that removes the entire cap structure of m7G capped or incompletely capped RNAs and mediates their subsequent degradation. Specifically degrades pre-mRNAs with a defective 5’-end m7G cap and is part of a pre-mRNA capping quality control. Has decapping activity toward incomplete 5’-end m7G cap mRNAs such as unmethylated 5’-end-capped RNA (cap0), while it has no activity toward 2’-O-ribose methylated m7G cap (cap1). In contrast to canonical decapping enzymes DCP2 and NUDT16, which cleave the cap within the triphosphate linkage, the decapping activity releases the entire cap structure GpppN and a 5’-end monophosphate RNA. Also has 5’-3’ exoribonuclease activities: The 5’-end monophosphate RNA is then degraded by the 5’-3’ exoribonuclease activity, enabling this enzyme to decap and degrade incompletely capped mRNAs. Also possesses RNA 5’-pyrophosphohydrolase activity by hydrolyzing the 5’-end triphosphate to release pyrophosphates. Exhibits decapping activity towards FAD-capped RNAs. Exhibits decapping activity towards dpCoA-capped RNAs in vitro.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed.

Cofactor. Binds 2 magnesium ions.

Similarity. Belongs to the DXO/Dom3Z family.

RefSeq proteins (3): NP_001358134, NP_001358135, NP_005501* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013961	RAI1	Domain
IPR039039	RAI1-like_fam	Family

Pfam: PF08652

Catalyzed reactions (Rhea), 6 shown:

• a 5’-end NAD(+)-phospho-ribonucleoside in mRNA + H2O = a 5’-end phospho-ribonucleoside in mRNA + NAD(+) + H(+) (RHEA:60880)
• a 5’-end NAD(+)-phospho-ribonucleoside in snoRNA + H2O = a 5’-end phospho-ribonucleoside in snoRNA + NAD(+) + H(+) (RHEA:60892)
• a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-ribonucleoside-ribonucleotide in mRNA + H2O = a (N(7)-methyl 5’-triphosphoguanosine)-nucleoside + a 5’-end phospho-ribonucleoside in mRNA + H(+) (RHEA:66928)
• a 5’-end FAD-phospho-ribonucleoside in mRNA + H2O = a 5’-end phospho-ribonucleoside in mRNA + FAD + H(+) (RHEA:67492)
• a 5’-end CoA-ribonucleoside in mRNA + H2O = 3’-dephospho-CoA + a 5’-end phospho-ribonucleoside in mRNA + H(+) (RHEA:67496)
• a 5’-end triphospho-ribonucleoside in mRNA + H2O = a 5’-end phospho-ribonucleoside in mRNA + diphosphate + H(+) (RHEA:78683)

UniProt features (26 total): binding site 14, sequence variant 4, mutagenesis site 3, modified residue 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O77932-F1	92.96	0.88

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 (14): 234; 236; 236; 253; 254; 255; 280; 58; 101; 131–133; 192; 192 …

Post-translational modifications (2): 392, 394

Mutagenesis-validated functional residues (3):

Position	Phenotype
7–8	impaired subcellular location, leading to localization both in cytoplasm and nucleus.
236	abolishes the decapping activity on incomplete m7g cap mrnas; when associated with a-253.
253	abolishes the decapping activity on incomplete m7g cap mrnas; when associated with a-236.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9930044	Nuclear RNA decay

MSigDB gene sets: 111 (showing top): KAAB_FAILED_HEART_ATRIUM_DN, GOMF_NUCLEASE_ACTIVITY, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_SURVEILLANCE, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, CREB_Q3, GOMF_EXONUCLEASE_ACTIVITY, CHANDRAN_METASTASIS_UP, REACTOME_METABOLISM_OF_RNA, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOMF_5_3_EXONUCLEASE_ACTIVITY

GO Biological Process (6): nuclear-transcribed mRNA catabolic process (GO:0000956), mRNA catabolic process (GO:0006402), RNA destabilization (GO:0050779), nuclear mRNA surveillance (GO:0071028), nucleic acid metabolic process (GO:0090304), NAD-cap decapping (GO:0110155)

GO Molecular Function (12): nucleotide binding (GO:0000166), magnesium ion binding (GO:0000287), mRNA binding (GO:0003729), 5’-3’ exonuclease activity (GO:0008409), mRNA 5’-diphosphatase activity (GO:0034353), RNA NAD+-cap (NAD+-forming) hydrolase activity (GO:0110152), RNA binding (GO:0003723), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA catabolic process	2
catalytic activity, acting on RNA	2
cellular anatomical structure	2
mRNA catabolic process	1
negative regulation of gene expression	1
mRNA metabolic process	1
positive regulation of catabolic process	1
regulation of RNA stability	1
positive regulation of RNA metabolic process	1
nuclear-transcribed mRNA catabolic process	1
nuclear RNA surveillance	1
nucleobase-containing compound metabolic process	1
macromolecule metabolic process	1
RNA decapping	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
metal ion binding	1
RNA binding	1
exonuclease activity	1
polynucleotide 5’-phosphatase activity	1
pyrophosphatase activity	1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	1
nucleic acid binding	1
catalytic activity, acting on a nucleic acid	1
nuclease activity	1
hydrolase activity, acting on ester bonds	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

786 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DXO	XRN2	Q9H0D6	951
DXO	TJAP1	Q5JTD0	901
DXO	DCP2	Q8IU60	876
DXO	SKIC2	Q15477	864
DXO	DNASE1L2	Q92874	821
DXO	WHR1	P49842	813
DXO	C2	P06681	740
DXO	XRN1	Q8IZH2	700
DXO	PRRT1	Q99946	695
DXO	DUSP11	O75319	692
DXO	ERI2	A8K979	684
DXO	EGFL8	Q99944	620
DXO	NUDT16	Q96DE0	542
DXO	NUDT3	O95989	541
DXO	CMTR2	Q8IYT2	527

IntAct

77 interactions, top by confidence:

A	B	Type	Score
DXO		psi-mi:“MI:0915”(physical association)	0.560
DXO	EIF2S3	psi-mi:“MI:0915”(physical association)	0.560
DXO	ERN1	psi-mi:“MI:0915”(physical association)	0.560
DXO	FKBP1A	psi-mi:“MI:0915”(physical association)	0.560
UBE2K	DXO	psi-mi:“MI:0915”(physical association)	0.560
DXO	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
HSPD1	DXO	psi-mi:“MI:0915”(physical association)	0.560
PRKN	DXO	psi-mi:“MI:0915”(physical association)	0.560
DXO	PECAM1	psi-mi:“MI:0915”(physical association)	0.560
DXO	PRPS1	psi-mi:“MI:0915”(physical association)	0.560
DXO	SARS1	psi-mi:“MI:0915”(physical association)	0.560
DXO	VIM	psi-mi:“MI:0915”(physical association)	0.560
DXO	WFS1	psi-mi:“MI:0915”(physical association)	0.560
DNALI1	DXO	psi-mi:“MI:0915”(physical association)	0.560
DXO	BAG6	psi-mi:“MI:0915”(physical association)	0.560
KLF11	DXO	psi-mi:“MI:0915”(physical association)	0.560
DNAJB6	DXO	psi-mi:“MI:0915”(physical association)	0.560
DXO	CCT7	psi-mi:“MI:0915”(physical association)	0.560
DXO	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
DXO	RNF11	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (32): RECQL5 (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), IGHA2 (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), ARMC5 (Affinity Capture-MS), DXO (Co-fractionation), RECQL5 (Affinity Capture-MS), ARMC5 (Affinity Capture-MS), IGHA2 (Affinity Capture-MS), POLR2M (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), DXO (Affinity Capture-RNA), DXO (Affinity Capture-Western), NPLOC4 (Affinity Capture-Western), CFL1 (Proximity Label-MS)

ESM2 similar proteins: A6H603, D3ZBP4, D3ZU57, E2RDP2, E9QAM5, F1MH07, O00411, O70348, O77932, O95382, P0DPD7, P0DPE0, P0DPE1, P10937, P10938, P11086, P41226, P49753, Q002B5, Q149M9, Q3U2A8, Q4KM32, Q561R2, Q568Y2, Q5E9Y5, Q5HZT0, Q5ST30, Q5TM74, Q643R3, Q684M2, Q68FW7, Q6MG21, Q6MG77, Q6NVG1, Q6PAT0, Q767M3, Q76MJ5, Q86TL0, Q8BKF1, Q8BMZ5

Diamond homologs: O70348, O77932, P0CN12, P0CN13, Q2GXY3, Q4I613, Q4P1Q7, Q4WDK5, Q5AYW6, Q5E9Y5, Q5HZT0, Q6BLU6, Q6MG77, Q8RY73, Q9HE87, A3LNL5, O13836, A7TS67, P53063, Q5AAT0, Q6C4A3, Q6FWY5, Q753P9, C5DLH0, Q6CNF8, Q10660, Q9VXA8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	5	17.2×	6e-04
protein stabilization	6	13.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1075 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31970020:CGAGC:C	acceptor_gain	1.0000
6:31970214:C:CT	acceptor_gain	0.9900
6:31970238:A:T	acceptor_gain	0.9900
6:31970245:G:C	acceptor_gain	0.9900
6:31970245:G:GC	acceptor_gain	0.9900
6:31970380:T:C	acceptor_gain	0.9900
6:31972508:CCAG:C	donor_loss	0.9900
6:31972509:CAG:C	donor_loss	0.9900
6:31970202:TT:T	acceptor_gain	0.9800
6:31970204:C:CC	acceptor_gain	0.9800
6:31970210:C:CT	acceptor_gain	0.9800
6:31970215:A:T	acceptor_gain	0.9800
6:31970341:AC:A	donor_gain	0.9800
6:31970342:CC:C	donor_gain	0.9800
6:31970598:T:TA	donor_gain	0.9800
6:31970617:C:CA	donor_gain	0.9800
6:31970619:T:TA	donor_gain	0.9800
6:31970907:CTCA:C	donor_loss	0.9800
6:31970908:TCAC:T	donor_loss	0.9800
6:31970909:CACC:C	donor_loss	0.9800
6:31970910:ACCT:A	donor_loss	0.9800
6:31970911:C:CA	donor_loss	0.9800
6:31971946:TCC:T	donor_gain	0.9800
6:31970023:GCCT:G	acceptor_loss	0.9700
6:31970025:C:CA	acceptor_loss	0.9700
6:31970025:C:CC	acceptor_gain	0.9700
6:31970200:CATT:C	acceptor_gain	0.9700
6:31970201:ATTC:A	acceptor_loss	0.9700
6:31970202:TTCTG:T	acceptor_loss	0.9700
6:31970203:TCTGG:T	acceptor_loss	0.9700

AlphaMissense

2559 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31970653:C:A	K255N	0.998
6:31970653:C:G	K255N	0.998
6:31970188:A:G	W322R	0.997
6:31970188:A:T	W322R	0.997
6:31970462:A:G	W277R	0.996
6:31970462:A:T	W277R	0.996
6:31970459:A:G	W278R	0.995
6:31970459:A:T	W278R	0.995
6:31970472:C:A	K273N	0.994
6:31970472:C:G	K273N	0.994
6:31970186:C:A	W322C	0.993
6:31970186:C:G	W322C	0.993
6:31970445:G:C	F282L	0.993
6:31970445:G:T	F282L	0.993
6:31970447:A:G	F282L	0.993
6:31970457:C:A	W278C	0.993
6:31970457:C:G	W278C	0.993
6:31970474:T:C	K273E	0.993
6:31970411:G:T	R294S	0.992
6:31970655:T:C	K255E	0.992
6:31970657:A:G	L254P	0.992
6:31971023:A:C	Y161D	0.992
6:31970162:G:C	F330L	0.991
6:31970162:G:T	F330L	0.991
6:31970164:A:G	F330L	0.991
6:31970931:A:C	F191L	0.991
6:31970931:A:T	F191L	0.991
6:31970933:A:G	F191L	0.991
6:31970010:A:G	F353S	0.990
6:31970171:G:C	C327W	0.990

dbSNP variants (sampled 300 via entrez): RS1000809916 (6:31973421 A>G), RS1002990582 (6:31971355 C>A,G,T), RS1003118406 (6:31973568 T>G), RS1003126584 (6:31971773 A>C), RS1007000300 (6:31973970 A>G), RS1008974407 (6:31971207 C>A,G), RS1010202642 (6:31973927 CAT>C), RS1010668097 (6:31973607 G>A), RS1011241622 (6:31970090 A>G), RS1012046591 (6:31971667 G>A), RS1012141352 (6:31971375 C>A,T), RS1012383213 (6:31973359 G>A), RS1015744027 (6:31969621 T>A,C), RS1018305103 (6:31973888 G>A), RS1019158576 (6:31972161 T>A,G)

Disease associations

OMIM: gene MIM:605996 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001942_21	Prostate cancer	5.000000e-09
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_118	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_162	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_173	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_224	Autism spectrum disorder or schizophrenia	5.000000e-10
GCST004521_227	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST005359_2	Disease progression in age-related macular degeneration	8.000000e-10
GCST008916_30	Asthma	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Glyphosate	decreases expression	1
Air Pollutants	increases abundance, affects expression	1
Vehicle Emissions	decreases expression, decreases reaction	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Lead	decreases expression	1
Methotrexate	decreases expression	1
Ozone	affects expression, increases abundance	1
Progesterone	affects cotreatment, increases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tunicamycin	increases expression	1
Vitamin E	increases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	decreases expression, decreases reaction	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SL21	HAP1 DXO (-) 1	Cancer cell line	Male
CVCL_SL22	HAP1 DXO (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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