GIGYF1

Summary

GIGYF1 (GRB10 interacting GYF protein 1, HGNC:9126) is a protein-coding gene on chromosome 7q22.1, encoding GRB10-interacting GYF protein 1 (O75420). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling.

This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling.

Source: NCBI Gene 64599 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 308 total — 24 pathogenic, 6 likely-pathogenic
• MANE Select transcript: NM_001375765

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9126
Approved symbol	GIGYF1
Name	GRB10 interacting GYF protein 1
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	GYF1
Ensembl gene	ENSG00000146830
Ensembl biotype	protein_coding
OMIM	612064
Entrez	64599

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000275732, ENST00000464111, ENST00000471340, ENST00000472105, ENST00000643385, ENST00000646601, ENST00000678049, ENST00000893813, ENST00000893814, ENST00000893815, ENST00000893816, ENST00000893817, ENST00000893818, ENST00000893819, ENST00000893820, ENST00000893821, ENST00000925356, ENST00000925357, ENST00000961704, ENST00000961705, ENST00000961706, ENST00000961707

RefSeq mRNA: 10 — MANE Select: NM_001375765 NM_001375759, NM_001375760, NM_001375761, NM_001375762, NM_001375763, NM_001375764, NM_001375765, NM_001375766, NM_001375767, NM_001375768

CCDS: CCDS34708

Canonical transcript exons

ENST00000678049 — 27 exons

Exon	Start	End
ENSE00000977627	100684020	100684157
ENSE00001130524	100681864	100681993
ENSE00001130534	100682072	100682235
ENSE00001130544	100682322	100682482
ENSE00001130551	100682590	100682777
ENSE00001130581	100684237	100684337
ENSE00001130587	100684450	100684616
ENSE00001130592	100684723	100684894
ENSE00001130596	100685049	100685146
ENSE00001130602	100686180	100686433
ENSE00001130604	100686649	100686819
ENSE00001144122	100679507	100681771
ENSE00001481341	100683012	100683230
ENSE00001481343	100683304	100683444
ENSE00001481344	100683550	100683632
ENSE00001481346	100683818	100683918
ENSE00001481350	100685344	100685481
ENSE00001481353	100685974	100686079
ENSE00001481358	100687006	100687046
ENSE00001481360	100687298	100687406
ENSE00003581308	100687788	100687883
ENSE00003635338	100687981	100688110
ENSE00003646852	100687505	100687616
ENSE00003823585	100688451	100688515
ENSE00003830800	100688204	100688307
ENSE00003907516	100694110	100694250
ENSE00003910004	100688592	100689555

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 97.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.5164 / max 517.9376, expressed in 1819 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85242	25.1159	1817
85240	4.2266	1467
85243	3.7092	1401
85241	0.4647	255

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.71	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.16	gold quality
cerebellar hemisphere	UBERON:0002245	94.01	gold quality
cerebellar cortex	UBERON:0002129	93.94	gold quality
nasal cavity epithelium	UBERON:0005384	93.89	gold quality
left ovary	UBERON:0002119	93.81	gold quality
mucosa of stomach	UBERON:0001199	93.79	gold quality
right ovary	UBERON:0002118	93.55	gold quality
body of uterus	UBERON:0009853	93.42	gold quality
cerebellum	UBERON:0002037	93.12	gold quality
granulocyte	CL:0000094	93.03	gold quality
apex of heart	UBERON:0002098	92.88	gold quality
pituitary gland	UBERON:0000007	92.80	gold quality
right uterine tube	UBERON:0001302	92.80	gold quality
adenohypophysis	UBERON:0002196	92.70	gold quality
kidney epithelium	UBERON:0004819	92.61	silver quality
right lobe of thyroid gland	UBERON:0001119	92.47	gold quality
endocervix	UBERON:0000458	91.99	gold quality
metanephros cortex	UBERON:0010533	91.88	gold quality
nerve	UBERON:0001021	91.68	gold quality
tibial nerve	UBERON:0001323	91.68	gold quality
left uterine tube	UBERON:0001303	91.66	gold quality
skin of leg	UBERON:0001511	91.52	gold quality
body of pancreas	UBERON:0001150	91.47	gold quality
tibialis anterior	UBERON:0001385	91.44	silver quality
small intestine Peyer’s patch	UBERON:0003454	91.39	gold quality
left lobe of thyroid gland	UBERON:0001120	91.34	gold quality
spleen	UBERON:0002106	91.20	gold quality
ovary	UBERON:0000992	91.08	gold quality
minor salivary gland	UBERON:0001830	91.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.30
E-MTAB-4850	no	25.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

145 targeting GIGYF1, 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-4262	100.00	73.26	3931
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-106A-5P	99.90	73.94	2683

Literature-anchored findings (GeneRIF, showing 7)

• the apparent occurrence of an unusual TG 3’ splice site in intron 8 is discussed (PMID:17672918)
• 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay. (PMID:33053355)
• GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. (PMID:34234147)
• Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes. (PMID:34732801)
• GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis? (PMID:36189799)
• Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. (PMID:36924980)
• Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells. (PMID:37484805)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gigyf1b	ENSDARG00000078691
danio_rerio	gigyf1a	ENSDARG00000098932
mus_musculus	Gigyf1	ENSMUSG00000029714
rattus_norvegicus	Gigyf1	ENSRNOG00000001410
drosophila_melanogaster	Gyf	FBGN0039936
caenorhabditis_elegans		WBGENE00016002

Paralogs (1): GIGYF2 (ENSG00000204120)

Protein

Protein identifiers

GRB10-interacting GYF protein 1 — O75420 (reviewed: O75420)

Alternative names: PERQ amino acid-rich with GYF domain-containing protein 1

All UniProt accessions (1): O75420

UniProt curated annotations — full annotation on UniProt →

Function. May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1.

Subunit / interactions. Interacts with GRB10. This transient binding is increased under IGF1 stimulation and leads to recruitment of GIGYF1/GRB10 complex to IGF1 receptor. Interacts with DDX6.

Domain organisation. The GYF domain interacts with GRB10.

Similarity. Belongs to the GIGYF family.

RefSeq proteins (10): NP_001362688, NP_001362689, NP_001362690, NP_001362691, NP_001362692, NP_001362693, NP_001362694, NP_001362695, NP_001362696, NP_001362697 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003169	GYF	Domain
IPR035445	GYF-like_dom_sf	Homologous_superfamily
IPR051640	GRB10-interact_GYF	Family

Pfam: PF02213

UniProt features (46 total): compositionally biased region 11, modified residue 10, helix 8, region of interest 4, strand 4, mutagenesis site 3, sequence conflict 3, chain 1, domain 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7RUQ	X-RAY DIFFRACTION	1.79
5NVK	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75420-F1	56.32	0.07

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 (10): 24, 28, 137, 157, 230, 341, 406, 538, 638, 862

Mutagenesis-validated functional residues (3):

Position	Phenotype
294	abolishes interaction with ddx6.
306	abolishes interaction with ddx6; when associated with a-312.
312	abolishes interaction with ddx6; when associated with a-306.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 110 (showing top): GCACCTT_MIR18A_MIR18B, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, AGGCACT_MIR5153P, GOBP_NEGATIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, MODULE_239, GCM_DDX11, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOBP_REGULATION_OF_TRANSLATION

GO Biological Process (1): insulin-like growth factor receptor signaling pathway (GO:0048009)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor protein tyrosine kinase signaling pathway	1
binding	1
cytoplasm	1
cellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

1102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIGYF1	GRB10	Q13322	932
GIGYF1	ZNF598	Q86UK7	895
GIGYF1	EIF4E2	O60573	851
GIGYF1	CNOT9	Q92600	671
GIGYF1	GIGYF2	Q6Y7W6	655
GIGYF1	DDX6	P26196	654
GIGYF1	PATL1	Q86TB9	642
GIGYF1	IGF1R	P08069	582
GIGYF1	CNOT1	A5YKK6	570
GIGYF1	CLTA	P09496	546
GIGYF1	ZFP36	P26651	545
GIGYF1	TNRC6A	Q8NDV7	537
GIGYF1	GRB14	Q14449	534
GIGYF1	GRB7	Q14451	534
GIGYF1	PROSER3	Q2NL68	501

IntAct

245 interactions, top by confidence:

A	B	Type	Score
GIGYF1	DDX6	psi-mi:“MI:0915”(physical association)	0.740
EIF4E2	GIGYF1	psi-mi:“MI:0407”(direct interaction)	0.690
GIGYF1	EIF4E2	psi-mi:“MI:0407”(direct interaction)	0.690
EIF4E2	GIGYF1	psi-mi:“MI:0915”(physical association)	0.690
EIF4E2	GIGYF1	psi-mi:“MI:0914”(association)	0.690
GIGYF1	STAC3	psi-mi:“MI:0915”(physical association)	0.670
GIGYF1	SNRPB	psi-mi:“MI:0915”(physical association)	0.660
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
GIGYF1	RBM22	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	SMARCD1	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	TCEA2	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	FAM124B	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	TLE5	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	ANKRD10	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	MNS1	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	CBX8	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	SNRPA	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	NEK6	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	CRACR2A	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	TSHZ2	psi-mi:“MI:0915”(physical association)	0.560
GIGYF1	TROAP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (306): GIGYF1 (Proximity Label-MS), GIGYF1 (Proximity Label-MS), GIGYF1 (Proximity Label-MS), GIGYF1 (Proximity Label-MS), GIGYF1 (Proximity Label-MS), GIGYF1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), CGN (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2

Diamond homologs: C6KRN1, O75420, Q4KME6, Q5U236, Q6Y7W6, Q6Y7W8, Q99MR1, O36025, P32909, Q02875, Q7KQM6, Q9FMM3, Q9SIV5, Q09237, Q9FT92

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CNOT9	“up-regulates activity”	GIGYF1	binding
GIGYF1	“form complex”	“EIF4E2/GIGYF1 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 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
CDC42 GTPase cycle	8	7.3×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of translation	8	13.3×	1e-04
G2/M transition of mitotic cell cycle	5	13.2×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	24
Likely pathogenic	6
Uncertain significance	205
Likely benign	35
Benign	15

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1685847	NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs)	Pathogenic
2430005	NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)	Pathogenic
3281366	NM_001375765.1(GIGYF1):c.944_945del (p.Leu315fs)	Pathogenic
3377147	NM_001375765.1(GIGYF1):c.658del (p.Arg220fs)	Pathogenic
3377153	NM_001375765.1(GIGYF1):c.1683del (p.Leu562fs)	Pathogenic
3853959	NM_001375765.1(GIGYF1):c.2015_2016del (p.Gln672fs)	Pathogenic
3853961	NM_001375765.1(GIGYF1):c.1382_1383del (p.Ser461fs)	Pathogenic
4263655	Single allele	Pathogenic
4263658	Single allele	Pathogenic
4263660	Single allele	Pathogenic
4263661	Single allele	Pathogenic
4532040	NM_001375765.1(GIGYF1):c.2113C>T (p.Arg705Ter)	Pathogenic
4532041	NM_001375765.1(GIGYF1):c.1012del (p.Glu338fs)	Pathogenic
4532043	NM_001375765.1(GIGYF1):c.720del (p.Trp240fs)	Pathogenic
4532044	NM_001375765.1(GIGYF1):c.331del (p.Leu111fs)	Pathogenic
4671831	Single allele	Pathogenic
4671836	Single allele	Pathogenic
4671839	Single allele	Pathogenic
4671840	Single allele	Pathogenic
4671841	Single allele	Pathogenic
4671843	Single allele	Pathogenic
4671844	Single allele	Pathogenic
4837745	Single allele	Pathogenic
4838933	Single allele	Pathogenic
2632232	NM_001375765.1(GIGYF1):c.1171A>T (p.Lys391Ter)	Likely pathogenic
2691859	NM_001375765.1(GIGYF1):c.102C>G (p.Tyr34Ter)	Likely pathogenic
3030657	NM_001375765.1(GIGYF1):c.671_680del (p.Asp224fs)	Likely pathogenic
3037283	NM_001375765.1(GIGYF1):c.661C>T (p.Arg221Ter)	Likely pathogenic
3061160	NM_001375765.1(GIGYF1):c.425del (p.Asp142fs)	Likely pathogenic
3377142	NM_001375765.1(GIGYF1):c.2052+2T>C	Likely pathogenic

SpliceAI

3117 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100682066:CCTCA:C	donor_loss	1.0000
7:100682067:CTCAC:C	donor_loss	1.0000
7:100682068:TCACC:T	donor_loss	1.0000
7:100682069:CA:C	donor_loss	1.0000
7:100682070:ACCT:A	donor_loss	1.0000
7:100682071:C:CA	donor_loss	1.0000
7:100682071:CCTG:C	donor_gain	1.0000
7:100682231:GGGCA:G	acceptor_gain	1.0000
7:100682234:CA:C	acceptor_gain	1.0000
7:100682236:C:CC	acceptor_gain	1.0000
7:100682324:T:TA	donor_gain	1.0000
7:100682346:G:C	donor_gain	1.0000
7:100682384:T:TA	donor_gain	1.0000
7:100682478:AGTCA:A	acceptor_gain	1.0000
7:100682479:GTCA:G	acceptor_gain	1.0000
7:100682480:TCA:T	acceptor_gain	1.0000
7:100682481:CA:C	acceptor_gain	1.0000
7:100682481:CAC:C	acceptor_gain	1.0000
7:100682483:C:CC	acceptor_gain	1.0000
7:100683011:CCA:C	donor_gain	1.0000
7:100683302:A:AC	donor_gain	1.0000
7:100683303:C:CC	donor_gain	1.0000
7:100683303:CGTG:C	donor_gain	1.0000
7:100683310:G:A	donor_gain	1.0000
7:100683326:T:A	donor_gain	1.0000
7:100683329:T:TA	donor_gain	1.0000
7:100683332:T:TA	donor_gain	1.0000
7:100683353:T:TA	donor_gain	1.0000
7:100683548:A:AC	donor_gain	1.0000
7:100683549:C:CC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000185194 (7:100692260 C>A), RS1000464705 (7:100680397 A>G), RS1000522463 (7:100693263 A>T), RS1001059743 (7:100688586 G>A), RS1001147754 (7:100682724 C>T), RS1001158008 (7:100693487 G>T), RS1001225247 (7:100695038 G>A,C), RS1001316256 (7:100689635 G>A), RS1001433829 (7:100682977 G>A,C), RS1001605115 (7:100685836 C>A), RS1001738891 (7:100680999 G>A), RS1001779248 (7:100695217 C>T), RS1001849793 (7:100679067 CAGGAGGT>C), RS1002033301 (7:100682027 G>A), RS1002124808 (7:100681777 G>A)

Disease associations

OMIM: gene MIM:612064 | disease phenotypes: MIM:617808

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Strong	Autosomal dominant
autism spectrum disorder	Strong	Autosomal dominant
neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (4): neurodevelopmental disorder (MONDO:0700092), autism spectrum disorder (MONDO:0005258), Coffin-Siris syndrome 6 (MONDO:0033492), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003818_36	Resting heart rate	1.000000e-41
GCST005024_34	Pursuit maintenance gain	7.000000e-08
GCST005028_4	Pursuit maintenance gain in psychotic disorders	1.000000e-08
GCST006612_106	LDL cholesterol	4.000000e-08
GCST010571_38	Autoimmune thyroid disease	7.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Valproic Acid	decreases expression, increases methylation	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
arsenite	increases methylation	1
entinostat	decreases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	decreases expression	1
Estradiol	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Gold Compounds	decreases methylation	1
Cadmium Chloride	decreases expression	1
Palmitic Acid	decreases phosphorylation	1
Lactic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A5EG	HEK293T-GIGYF1/2-null	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in 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
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
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
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances