FRA10AC1

Summary

FRA10AC1 (FRA10A associated CGG repeat 1, HGNC:1162) is a protein-coding gene on chromosome 10q23.33, encoding Protein FRA10AC1 (Q70Z53). May be involved in pre-mRNA splicing.

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5’ UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site.

Source: NCBI Gene 118924 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 82 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 49
• MANE Select transcript: NM_145246

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1162
Approved symbol	FRA10AC1
Name	FRA10A associated CGG repeat 1
Location	10q23.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000148690
Ensembl biotype	protein_coding
OMIM	608866
Entrez	118924

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 25 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000359204, ENST00000460752, ENST00000462771, ENST00000472153, ENST00000482719, ENST00000483229, ENST00000905754, ENST00000905755, ENST00000905756, ENST00000905757, ENST00000905758, ENST00000905759, ENST00000905760, ENST00000905761, ENST00000905762, ENST00000920719, ENST00000920720, ENST00000920721, ENST00000920722, ENST00000920723, ENST00000920724, ENST00000920725, ENST00000920726, ENST00000959337, ENST00000959338, ENST00000959339, ENST00000959340, ENST00000959341, ENST00000959342, ENST00000959343

RefSeq mRNA: 5 — MANE Select: NM_145246 NM_001347712, NM_001347713, NM_001347714, NM_001347715, NM_145246

CCDS: CCDS7430

Canonical transcript exons

ENST00000359204 — 14 exons

Exon	Start	End
ENSE00001021578	93681480	93681598
ENSE00001021581	93692646	93692729
ENSE00001021584	93676653	93676691
ENSE00001021587	93698301	93698396
ENSE00001096888	93684056	93684098
ENSE00001096889	93692009	93692093
ENSE00001096892	93685246	93685359
ENSE00001096893	93687404	93687449
ENSE00001196063	93694861	93694937
ENSE00001196068	93698136	93698181
ENSE00001280124	93702375	93702592
ENSE00001455214	93667883	93669868
ENSE00003459004	93700030	93700106
ENSE00003483058	93670770	93670848

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1435 / max 344.4867, expressed in 1785 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110720	15.5966	1782
110719	0.5469	200

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	97.35	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.82	gold quality
medial globus pallidus	UBERON:0002477	96.63	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.59	gold quality
lateral globus pallidus	UBERON:0002476	96.48	gold quality
globus pallidus	UBERON:0001875	96.46	gold quality
substantia nigra pars compacta	UBERON:0001965	96.12	gold quality
epithelial cell of pancreas	CL:0000083	95.77	gold quality
tendon	UBERON:0000043	95.03	gold quality
calcaneal tendon	UBERON:0003701	94.74	gold quality
endothelial cell	CL:0000115	94.59	gold quality
germinal epithelium of ovary	UBERON:0001304	94.39	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.24	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.03	gold quality
corpus callosum	UBERON:0002336	94.03	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.01	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.00	gold quality
subthalamic nucleus	UBERON:0001906	93.97	gold quality
layer of synovial tissue	UBERON:0007616	93.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.65	gold quality
parotid gland	UBERON:0001831	93.64	gold quality
superior vestibular nucleus	UBERON:0007227	93.32	gold quality
entorhinal cortex	UBERON:0002728	93.21	gold quality
left ventricle myocardium	UBERON:0006566	93.19	gold quality
medulla oblongata	UBERON:0001896	92.98	gold quality
substantia nigra	UBERON:0002038	92.98	gold quality
midbrain	UBERON:0001891	92.96	gold quality
pons	UBERON:0000988	92.90	gold quality
inferior vagus X ganglion	UBERON:0005363	92.90	gold quality
myocardium	UBERON:0002349	92.88	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.71
E-MTAB-7303	no	159.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting FRA10AC1, 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-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6780A-5P	99.88	66.69	2776

Literature-anchored findings (GeneRIF, showing 2)

• variants in FRA10AC1 associated with CSF Abeta1-42 level passing the genome-wide significance threshold, were identified. (PMID:26252872)
• Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. (PMID:34694367)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fra10ac1	ENSDARG00000102615
mus_musculus	Fra10ac1	ENSMUSG00000054237
rattus_norvegicus	Fra10ac1	ENSRNOG00000015235
drosophila_melanogaster	CG16890	FBGN0028932
caenorhabditis_elegans		WBGENE00086566

Paralogs (5): ACP3 (ENSG00000014257), ACP2 (ENSG00000134575), ACP4 (ENSG00000142513), PXYLP1 (ENSG00000155893), ACP6 (ENSG00000162836)

Protein

Protein identifiers

Protein FRA10AC1 — Q70Z53 (reviewed: Q70Z53)

All UniProt accessions (1): Q70Z53

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in pre-mRNA splicing.

Subunit / interactions. Interacts with ESS2.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver.

Disease relevance. Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) [MIM:620113] An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, and absent speech. Patients have microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. Expansion of a polymorphic CGG repeat within the 5’-UTR of FRA10AC1 results in expression of the folate-sensitive fragile site FRA10A. The number of the CGG repeats normally varies in the population from 8 to 14. In contrast, individuals cytogenetically expressing the fragile site have at least 200 CGG repeats. No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with intellectual disability, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias.

Isoforms (5)

UniProt ID	Names	Canonical?
Q70Z53-1	1, FRA10AC1-1	yes
Q70Z53-2	2, FRA10AC1-2
Q70Z53-3	3, FRA10AC1-3.1
Q70Z53-4	4, FRA10AC1-3.2
Q70Z53-5	5, FRA10AC1-3.3

RefSeq proteins (5): NP_001334641, NP_001334642, NP_001334643, NP_001334644, NP_660289* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019129	Folate-sensitive_fs_Fra10Ac1	Family
IPR050645	Histidine_acid_phosphatase	Family

Pfam: PF09725

UniProt features (29 total): modified residue 9, splice variant 6, sequence variant 6, compositionally biased region 4, region of interest 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q70Z53-F1	72.94	0.27

Functional residue map

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

Post-translational modifications (9): 36, 251, 252, 278, 283, 285, 1, 9, 12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 268 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, WENDT_COHESIN_TARGETS_UP, CHX10_01, OCT1_03, GOBP_RNA_SPLICING, EGR1_01, HOXA4_Q2, YNGTTNNNATT_UNKNOWN, TAATTA_CHX10_01, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, HAMAI_APOPTOSIS_VIA_TRAIL_UP, chr10q23, PR_01

GO Biological Process (1): mRNA splicing, via spliceosome (GO:0000398)

GO Molecular Function (2): phosphatase activity (GO:0016791), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
phosphoric ester hydrolase activity	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRA10AC1	ZNF32	P17041	912
FRA10AC1	PDE6C	P51160	826
FRA10AC1	LGI1	O95970	764
FRA10AC1	TMEM185A	Q8NFB2	658
FRA10AC1	AFF2	P51816	505
FRA10AC1	DIP2B	Q9P265	419
FRA10AC1	ZNF19	P17023	399
FRA10AC1	WDR41	Q9HAD4	379
FRA10AC1	FAM32A	Q9Y421	376
FRA10AC1	ZNF713	Q8N859	371
FRA10AC1	ENGASE	Q8NFI3	350
FRA10AC1	ZRSR2	Q15696	342
FRA10AC1	TTC31	Q49AM3	341
FRA10AC1	METTL3	Q86U44	339
FRA10AC1	FMR1	Q06787	336

IntAct

54 interactions, top by confidence:

A	B	Type	Score
FRA10AC1	ESS2	psi-mi:“MI:0915”(physical association)	0.730
TRIM41	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.670
FRA10AC1	TRIM41	psi-mi:“MI:0915”(physical association)	0.670
ESS2	ACADS	psi-mi:“MI:0914”(association)	0.640
FRA10AC1	KASH5	psi-mi:“MI:0915”(physical association)	0.560
KASH5	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.560
MOB2	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.560
ESS2	HSPA8	psi-mi:“MI:0914”(association)	0.530
FGF9	PPID	psi-mi:“MI:0914”(association)	0.530
OIP5	CYTH3	psi-mi:“MI:0914”(association)	0.530
SGO1	USP12	psi-mi:“MI:0914”(association)	0.530
MSL1	MSL3B	psi-mi:“MI:0914”(association)	0.530
FRA10AC1	MAP3K12	psi-mi:“MI:0915”(physical association)	0.510
CHERP	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.510
FRA10AC1	IK	psi-mi:“MI:0915”(physical association)	0.510
SF3B2	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.510
	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.400
PRPF40A	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.370
U2AF1	FRA10AC1	psi-mi:“MI:0915”(physical association)	0.370
FRA10AC1	PRPF3	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (72): FRA10AC1 (Two-hybrid), CCDC155 (Two-hybrid), FRA10AC1 (Affinity Capture-MS), CLIC1 (Co-fractionation), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), ADPRHL2 (Two-hybrid), C7orf25 (Two-hybrid), GDPD2 (Two-hybrid)

ESM2 similar proteins: A2XIP9, A5GFW7, B1WB17, B4FGS2, E1C760, E7EXT2, F7AEX0, O15541, O59800, P0CR50, P0CR51, P28518, P35251, P35600, P35601, P35728, P52012, Q0VCR1, Q10154, Q21755, Q28E45, Q2R2B4, Q3LSS0, Q3T1J8, Q4P400, Q4R594, Q5AX35, Q5AXT6, Q5EAW4, Q5FVF1, Q5R9P9, Q5ZJN1, Q640E9, Q67ER4, Q6C3L4, Q70Z53, Q75LU5, Q810J8, Q8BP78, Q8IZP6

Diamond homologs: Q5FVF1, Q70Z53, Q8BP78

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 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
mRNA Splicing - Major Pathway	12	19.9×	4e-11
mRNA Polyadenylation	5	13.3×	3e-03
Dengue Virus-Host Interactions	6	8.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	10	22.9×	3e-09
RNA splicing	6	13.2×	6e-04
mRNA processing	6	11.8×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	44
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1722514	NM_145246.5(FRA10AC1):c.561_562insTTTA (p.Ser188fs)	Pathogenic
1722515	NM_145246.5(FRA10AC1):c.491AAG[1] (p.Glu165del)	Pathogenic
1722518	NM_145246.5(FRA10AC1):c.481C>T (p.Arg161Ter)	Pathogenic
2504404	NM_145246.5(FRA10AC1):c.103C>T (p.Gln35Ter)	Pathogenic
2682558	NM_145246.5(FRA10AC1):c.51_52del (p.Cys17fs)	Pathogenic
3902020	NM_145246.5(FRA10AC1):c.76del (p.Arg26fs)	Likely pathogenic
4292103	NM_145246.5(FRA10AC1):c.453T>G (p.Tyr151Ter)	Likely pathogenic
4293096	NM_145246.5(FRA10AC1):c.626-1G>C	Likely pathogenic
830758	NC_000010.11:g.(?93655760)(93700106_?)del	Likely pathogenic

SpliceAI

2177 predictions. Top by Δscore:

Variant	Effect	Δscore
10:93676647:ACT:A	donor_loss	1.0000
10:93676648:CTTAC:C	donor_loss	1.0000
10:93676649:TTACT:T	donor_loss	1.0000
10:93676650:TACT:T	donor_loss	1.0000
10:93676651:A:AC	donor_gain	1.0000
10:93676652:C:CA	donor_gain	1.0000
10:93676652:CT:C	donor_gain	1.0000
10:93676652:CTA:C	donor_gain	1.0000
10:93681467:AATTT:A	donor_gain	1.0000
10:93681596:CTC:C	acceptor_gain	1.0000
10:93681598:CCTT:C	acceptor_gain	1.0000
10:93681599:C:CC	acceptor_gain	1.0000
10:93681601:T:C	acceptor_gain	1.0000
10:93681601:T:TC	acceptor_gain	1.0000
10:93681603:G:GC	acceptor_gain	1.0000
10:93681606:T:C	acceptor_gain	1.0000
10:93681606:T:TC	acceptor_gain	1.0000
10:93685244:A:AC	donor_gain	1.0000
10:93685245:C:CC	donor_gain	1.0000
10:93694853:ATACT:A	donor_loss	1.0000
10:93694854:TACTT:T	donor_loss	1.0000
10:93694855:ACTTA:A	donor_loss	1.0000
10:93694856:CT:C	donor_loss	1.0000
10:93694857:TT:T	donor_loss	1.0000
10:93694858:T:TG	donor_loss	1.0000
10:93694859:A:AC	donor_gain	1.0000
10:93694859:AC:A	donor_gain	1.0000
10:93694859:ACC:A	donor_gain	1.0000
10:93694860:C:CC	donor_gain	1.0000
10:93694860:C:CT	donor_loss	1.0000

AlphaMissense

2115 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:93687437:A:G	W160R	1.000
10:93687437:A:T	W160R	1.000
10:93685254:A:T	V206D	0.999
10:93685348:A:G	C175R	0.999
10:93687404:C:G	G171R	0.999
10:93687435:C:A	W160C	0.999
10:93687435:C:G	W160C	0.999
10:93687445:C:T	G157E	0.999
10:93692042:G:C	C144W	0.999
10:93692682:A:G	F115S	0.999
10:93684071:A:G	L218S	0.998
10:93684084:A:G	C214R	0.998
10:93684093:A:G	C211R	0.998
10:93685261:C:G	A204P	0.998
10:93685292:A:C	F193L	0.998
10:93685292:A:T	F193L	0.998
10:93685294:A:G	F193L	0.998
10:93685306:A:G	W189R	0.998
10:93685306:A:T	W189R	0.998
10:93685307:A:C	S188R	0.998
10:93685307:A:T	S188R	0.998
10:93685309:T:G	S188R	0.998
10:93685344:C:T	G176E	0.998
10:93685346:A:C	C175W	0.998
10:93685347:C:T	C175Y	0.998
10:93687436:C:G	W160S	0.998
10:93687439:C:A	R159M	0.998
10:93692043:C:T	C144Y	0.998
10:93685250:T:A	K207N	0.997
10:93685250:T:G	K207N	0.997

dbSNP variants (sampled 300 via entrez): RS1000016865 (10:93673085 C>T), RS1000218076 (10:93700162 A>C), RS1000249948 (10:93679367 T>C), RS1000272130 (10:93700644 A>G), RS1000355483 (10:93686416 A>C), RS1000366836 (10:93686713 T>C), RS1000478477 (10:93694642 C>A,T), RS1000548302 (10:93692529 T>C), RS1000619959 (10:93694400 G>A), RS1000695803 (10:93684836 A>G), RS1000989679 (10:93687739 T>G), RS1001032015 (10:93680967 A>G), RS1001183475 (10:93673522 A>G), RS1001212513 (10:93692843 T>C), RS1001634620 (10:93699378 C>T)

Disease associations

OMIM: gene MIM:608866 | disease phenotypes: MIM:620113

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	Strong	Autosomal recessive

Mondo (1): neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (MONDO:0859312)

Orphanet (0):

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000325	Triangular face
HP:0000341	Narrow forehead
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000414	Bulbous nose
HP:0000664	Synophrys
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000879	Short sternum
HP:0000998	Hypertrichosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001274	Agenesis of corpus callosum
HP:0001338	Partial agenesis of the corpus callosum
HP:0001344	Absent speech
HP:0001511	Intrauterine growth retardation
HP:0001562	Oligohydramnios
HP:0001629	Ventricular septal defect
HP:0001643	Patent ductus arteriosus
HP:0001655	Patent foramen ovale

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003072_6	Cerebrospinal fluid AB1-42 levels	8.000000e-11
GCST006996_2	Cerebrospinal AB1-42 levels in mild cognitive impairment	3.000000e-07
GCST007012_3	Cerebrospinal fluid AB1-42 levels	7.000000e-06
GCST010002_297	Refractive error	3.000000e-23

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
Valproic Acid	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation, affects cotreatment	1
methylparaben	increases expression	1
coumarin	decreases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
AM 251	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methotrexate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Ribonucleotides	affects binding	1
Thimerosal	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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