PAGR1

Summary

PAGR1 (PAXIP1 associated glutamate rich protein 1, HGNC:28707) is a protein-coding gene on chromosome 16p11.2, encoding PAXIP1-associated glutamate-rich protein 1 (Q9BTK6). Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. It is a selective cancer dependency (DepMap: 15.9% of cell lines).

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophagus squamous cell carcinoma.

Source: NCBI Gene 79447 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total — 3 pathogenic
• Cancer dependency (DepMap): dependent in 15.9% of screened cell lines
• MANE Select transcript: NM_024516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28707
Approved symbol	PAGR1
Name	PAXIP1 associated glutamate rich protein 1
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC4606, GAS, PA1
Ensembl gene	ENSG00000280789
Ensembl biotype	protein_coding
OMIM	612033
Entrez	79447

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000320330

RefSeq mRNA: 1 — MANE Select: NM_024516 NM_024516

CCDS: CCDS10655

Canonical transcript exons

ENST00000320330 — 3 exons

Exon	Start	End
ENSE00001241105	29817210	29817292
ENSE00001321547	29816152	29817007
ENSE00003711437	29819555	29822489

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 95.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7494 / max 125.1835, expressed in 1809 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153537	17.2024	1786
153539	7.1959	1571
153538	2.3511	1233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	95.27	gold quality
cerebellar hemisphere	UBERON:0002245	95.00	gold quality
cerebellar cortex	UBERON:0002129	94.77	gold quality
cerebellum	UBERON:0002037	93.41	gold quality
left ovary	UBERON:0002119	90.82	gold quality
right ovary	UBERON:0002118	89.67	gold quality
adenohypophysis	UBERON:0002196	89.03	gold quality
pituitary gland	UBERON:0000007	88.28	gold quality
endocervix	UBERON:0000458	87.43	gold quality
ovary	UBERON:0000992	86.75	gold quality
right uterine tube	UBERON:0001302	86.53	gold quality
body of uterus	UBERON:0009853	86.29	gold quality
pancreatic ductal cell	CL:0002079	86.20	gold quality
ectocervix	UBERON:0012249	85.37	gold quality
epithelial cell of pancreas	CL:0000083	85.09	silver quality
right coronary artery	UBERON:0001625	85.08	gold quality
endothelial cell	CL:0000115	84.62	silver quality
left uterine tube	UBERON:0001303	84.61	gold quality
descending thoracic aorta	UBERON:0002345	83.22	gold quality
vagina	UBERON:0000996	83.15	gold quality
ascending aorta	UBERON:0001496	83.15	gold quality
thoracic aorta	UBERON:0001515	83.04	gold quality
mucosa of transverse colon	UBERON:0004991	83.03	gold quality
aorta	UBERON:0000947	82.54	gold quality
uterine cervix	UBERON:0000002	82.47	gold quality
right frontal lobe	UBERON:0002810	82.36	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.34	gold quality
popliteal artery	UBERON:0002250	82.30	gold quality
tibial artery	UBERON:0007610	82.30	gold quality
lower esophagus	UBERON:0013473	82.10	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.53
E-MTAB-6524	no	73.84
E-GEOD-124858	no	41.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting PAGR1, 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-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• PA1 (C16orf53) binds PTIP directly and requires PTIP for interaction with the MLL3- and MLL4-containing histone H3 K4 methyltransferase complex. (PMID:17500065)
• GAS is a new transcription cofactor (PMID:19039327)
• subset of PTIP.PA1 complex is recruited to DNA damage sites via the RNF8-dependent pathway and is required for cell survival in response to DNA damage. (PMID:19124460)
• PA1 is a new competitive decelerator of GR transactivation and can act at more than one molecularly defined step in a manner that depends upon the specific gene (PMID:23161582)
• PA1 expression was observed in both nucleus (mainly)and cytoplasm from breast cancer tissue samples. PA1 nuclear expression was correlated with postmenopausal, smaller tumor size, negative Ki67, positive AR and positive ERbeta. PA1 nuclear positive cases seemed to have a longer survival than negative ones for RFS. For those patients without lymphnode metastasis PA1 was found to be an independent prognostic factor for RFS. (PMID:24260416)
• PTIP associated protein 1, PA1, is an independent prognostic factor for lymphnode negative breast cancer. (PMID:24260416)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pagr1	ENSDARG00000076966
mus_musculus	Pagr1a	ENSMUSG00000030680
mus_musculus	Gm42742	ENSMUSG00000107068
drosophila_melanogaster	Pa1	FBGN0287454

Protein

Protein identifiers

PAXIP1-associated glutamate-rich protein 1 — Q9BTK6 (reviewed: Q9BTK6)

Alternative names: Glutamate-rich coactivator interacting with SRC1, PAXIP1-associated protein 1, PTIP-associated protein 1

All UniProt accessions (1): Q9BTK6

UniProt curated annotations — full annotation on UniProt →

Function. Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex. However, its function in DNA damage has been questioned. During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex. Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition. Acts as a transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent.

Subunit / interactions. Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; PAXIP1 is required for the association with the MLL2/MLL3 complex. Forms a constitutive complex with PAXIP1/PTIP independently of the MLL2/MLL3 complex. Interacts with NCOA1, ESR1, NR3C1, AR.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed.

RefSeq proteins (1): NP_078792* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028213	PA1	Family

Pfam: PF15364

UniProt features (13 total): region of interest 4, modified residue 4, compositionally biased region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BTK6-F1	64.26	0.17

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 (4): 143, 148, 237, 138

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-9818564	Epigenetic regulation of gene expression by MLL3 and MLL4 complexes
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis

MSigDB gene sets: 203 (showing top): AHRARNT_01, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CCAWYNNGAAR_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_LIPID, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, YY1_Q6, COUP_01, TERAMOTO_OPN_TARGETS_CLUSTER_3, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (6): DNA repair (GO:0006281), DNA recombination (GO:0006310), positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of cell cycle G1/S phase transition (GO:1902808), DNA damage response (GO:0006974)

GO Molecular Function (2): nuclear estrogen receptor binding (GO:0030331), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), histone methyltransferase complex (GO:0035097), MLL3/4 complex (GO:0044666)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Epigenetic regulation by WDR5-containing histone modifying complexes	2
Activation of HOX genes during differentiation	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	2
DNA damage response	1
estrogen receptor signaling pathway	1
positive regulation of intracellular steroid hormone receptor signaling pathway	1
regulation of intracellular estrogen receptor signaling pathway	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
cell cycle G1/S phase transition	1
positive regulation of cell cycle phase transition	1
regulation of cell cycle G1/S phase transition	1
cellular response to stress	1
nuclear receptor binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
methyltransferase complex	1
nuclear protein-containing complex	1
histone methyltransferase complex	1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAGR1	PAXIP1	Q6ZW49	984
PAGR1	DPY30	Q9C005	934
PAGR1	KDM6A	O15550	918
PAGR1	KMT2C	Q8NEZ4	905
PAGR1	WDR5	P61964	892
PAGR1	ASH2L	Q9UBL3	891
PAGR1	RBBP5	Q15291	869
PAGR1	NCOA6	Q14686	862
PAGR1	SETD1A	O15047	744
PAGR1	HIRIP3	Q9BW71	676
PAGR1	INO80E	Q8NBZ0	665
PAGR1	KIF22	Q14807	638
PAGR1	KCTD13	Q8WZ19	635
PAGR1	ASPHD1	Q5U4P2	632
PAGR1	YPEL3	P61236	615

IntAct

57 interactions, top by confidence:

A	B	Type	Score
RBBP5	KMT2D	psi-mi:“MI:0914”(association)	0.840
PAGR1	PAXIP1	psi-mi:“MI:0915”(physical association)	0.790
PAXIP1	PAGR1	psi-mi:“MI:0915”(physical association)	0.790
PAXIP1	PAGR1	psi-mi:“MI:0914”(association)	0.790
PAGR1	WDR5	psi-mi:“MI:0914”(association)	0.730
PAGR1	KDM6A	psi-mi:“MI:0914”(association)	0.730
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
PAGR1	KMT2D	psi-mi:“MI:0914”(association)	0.640
PAXIP1	KMT2D	psi-mi:“MI:0914”(association)	0.640
NCOA1	PAGR1	psi-mi:“MI:0915”(physical association)	0.630
PAGR1	NCOA1	psi-mi:“MI:0915”(physical association)	0.630
PAGR1	Paxip1	psi-mi:“MI:0915”(physical association)	0.620
PAGR1	Paxip1	psi-mi:“MI:0914”(association)	0.620
Paxip1	KMT2D	psi-mi:“MI:0914”(association)	0.530
KDM6A	KMT2D	psi-mi:“MI:0914”(association)	0.530
KMT2D	KDM6A	psi-mi:“MI:0914”(association)	0.530
HSPA12B	EEF2K	psi-mi:“MI:0914”(association)	0.530
PAGR1	ESR1	psi-mi:“MI:0915”(physical association)	0.520
ESR1	PAGR1	psi-mi:“MI:0915”(physical association)	0.520
Nr3c1	PAGR1	psi-mi:“MI:0915”(physical association)	0.510
PAGR1	Nr3c1	psi-mi:“MI:0915”(physical association)	0.510
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480

BioGRID (83): PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Negative Genetic), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), NCOA6 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-MS), PAGR1 (Affinity Capture-RNA), QDPR (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8I316, A0A1W2PR82, A0A286YDK6, A2A9F4, A5PJD3, A6H7B4, A6NHS1, A6NJJ6, A6QP24, A6QPM6, D4AAA5, O08664, O43151, P24097, Q0VD86, Q1LZ80, Q1RMQ5, Q28CW2, Q2KIL8, Q32LI3, Q3B8N5, Q3T0X9, Q5M831, Q5M865, Q66MI6, Q6AY88, Q6DJE5, Q6PKN7, Q80VY2, Q8BII1, Q8C1R3, Q8N2Y8, Q8TAP8, Q8VC23, Q8VHZ9, Q90932, Q99L02, Q9BSI4, Q9BSJ6, Q9BTK6

Diamond homologs: Q1LZ80, Q5M865, Q99L02, Q9BTK6

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
Formation of WDR5-containing histone-modifying complexes	8	59.0×	2e-10
Deactivation of the beta-catenin transactivating complex	6	38.8×	7e-07
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	7	38.3×	5e-08
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	20.3×	2e-04
Formation of the beta-catenin:TCF transactivating complex	6	20.0×	2e-05
Activation of anterior HOX genes in hindbrain development during early embryogenesis	7	17.8×	8e-06
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	7	16.1×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
transcription initiation-coupled chromatin remodeling	5	46.7×	8e-06
positive regulation of miRNA transcription	5	35.4×	3e-05
transcription by RNA polymerase II	9	15.5×	9e-07
chromatin remodeling	5	8.9×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1077186	Single allele	Pathogenic
2427335	NC_000016.9:g.(?29825262)(29830230_?)del	Pathogenic
442803	GRCh37/hg19 16p11.2(chr16:29567295-30177240)x1	Pathogenic

SpliceAI

694 predictions. Top by Δscore:

Variant	Effect	Δscore
16:29816997:G:GT	donor_gain	1.0000
16:29816998:A:T	donor_gain	1.0000
16:29817003:G:GT	donor_gain	1.0000
16:29817004:A:T	donor_gain	1.0000
16:29817008:G:GG	donor_gain	1.0000
16:29819554:GGAA:G	acceptor_gain	1.0000
16:29819680:G:GT	donor_gain	1.0000
16:29819720:G:GT	donor_gain	1.0000
16:29819892:G:GT	donor_gain	1.0000
16:29819899:GAGT:G	donor_gain	1.0000
16:29819901:GT:G	donor_gain	1.0000
16:29819903:G:GG	donor_gain	1.0000
16:29816997:G:T	donor_gain	0.9900
16:29817003:GAAAA:G	donor_gain	0.9900
16:29817208:A:AG	acceptor_gain	0.9900
16:29817209:G:GA	acceptor_gain	0.9900
16:29817290:CAG:C	donor_loss	0.9900
16:29817291:AG:A	donor_loss	0.9900
16:29817292:GG:G	donor_loss	0.9900
16:29817292:GGTAC:G	donor_loss	0.9900
16:29817293:G:GA	donor_loss	0.9900
16:29817293:GTACA:G	donor_loss	0.9900
16:29819553:A:AG	acceptor_gain	0.9900
16:29819553:A:C	acceptor_loss	0.9900
16:29819553:A:T	acceptor_loss	0.9900
16:29819553:AG:A	acceptor_gain	0.9900
16:29819554:G:A	acceptor_loss	0.9900
16:29819554:G:GA	acceptor_gain	0.9900
16:29819554:GG:G	acceptor_gain	0.9900
16:29819554:GGA:G	acceptor_gain	0.9900

AlphaMissense

1637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:29817229:T:C	F168L	1.000
16:29817231:T:A	F168L	1.000
16:29817231:T:G	F168L	1.000
16:29817230:T:C	F168S	0.999
16:29817230:T:G	F168C	0.999
16:29817235:T:C	F170L	0.999
16:29817237:T:A	F170L	0.999
16:29817237:T:G	F170L	0.999
16:29819619:A:C	R210S	0.999
16:29819619:A:T	R210S	0.999
16:29819620:C:G	H211D	0.999
16:29819642:T:C	I218T	0.999
16:29817236:T:G	F170C	0.998
16:29819600:T:A	V204E	0.998
16:29819603:T:C	L205P	0.998
16:29819609:A:G	D207G	0.998
16:29819618:G:C	R210T	0.998
16:29819621:A:C	H211P	0.998
16:29817236:T:C	F170S	0.997
16:29819585:C:A	A199D	0.997
16:29819591:T:C	L201P	0.997
16:29819600:T:C	V204A	0.997
16:29819608:G:C	D207H	0.997
16:29819630:T:C	L214P	0.997
16:29817229:T:G	F168V	0.996
16:29819599:G:A	V204M	0.996
16:29819603:T:A	L205Q	0.996
16:29819605:T:C	S206P	0.996
16:29819609:A:T	D207V	0.996
16:29819642:T:G	I218S	0.996

dbSNP variants (sampled 300 via entrez): RS1000255402 (16:29817828 G>A,T), RS1000808122 (16:29822750 C>T), RS1000898291 (16:29818008 T>C), RS1001263439 (16:29821930 G>A), RS1001537522 (16:29818402 A>G), RS1002154335 (16:29818557 A>T), RS1002294244 (16:29818903 A>C), RS1002696915 (16:29815594 C>T), RS1003692660 (16:29814255 G>C), RS1004449390 (16:29815432 G>A), RS1004492608 (16:29814604 G>A,C), RS1004544963 (16:29814882 C>T), RS1005170168 (16:29817095 C>T), RS1005353665 (16:29821036 C>G,T), RS1005398367 (16:29822874 T>C)

Disease associations

OMIM: gene MIM:612033 | disease phenotypes: MIM:611913, MIM:128200

GenCC curated gene-disease

Mondo (2): proximal 16p11.2 microdeletion syndrome (MONDO:0012756), episodic kinesigenic dyskinesia (MONDO:0044202)

Orphanet (2): Proximal 16p11.2 microdeletion syndrome (Orphanet:261197), Paroxysmal kinesigenic dyskinesia (Orphanet:98809)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C579850	16p11.2 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1057451	LRP1, MVP, PAGR1		0.00	0
rs4788184	LRP1, MVP, PAGR1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
glycidyl methacrylate	increases expression	1
kojic acid	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Copper	affects binding, decreases expression	1
Coumestrol	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04271332	PHASE2	ACTIVE_NOT_RECRUITING	Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight