FRMPD1

Summary

FRMPD1 (FERM and PDZ domain containing 1, HGNC:29159) is a protein-coding gene on chromosome 9p13.2, encoding FERM and PDZ domain-containing protein 1 (Q5SYB0). Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.

Involved in establishment of protein localization to membrane and regulation of G protein-coupled receptor signaling pathway. Located in cell cortex and plasma membrane. Part of protein-containing complex.

Source: NCBI Gene 22844 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 280 total
• MANE Select transcript: NM_014907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29159
Approved symbol	FRMPD1
Name	FERM and PDZ domain containing 1
Location	9p13.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0967, FRMD2
Ensembl gene	ENSG00000070601
Ensembl biotype	protein_coding
OMIM	616919
Entrez	22844

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000359927, ENST00000377765, ENST00000539465

RefSeq mRNA: 4 — MANE Select: NM_014907 NM_001371223, NM_001371224, NM_001371225, NM_014907

CCDS: CCDS6612

Canonical transcript exons

ENST00000377765 — 16 exons

Exon	Start	End
ENSE00000982365	37707416	37707573
ENSE00000982366	37708399	37708501
ENSE00000982367	37711350	37711395
ENSE00000982370	37729728	37729853
ENSE00000982371	37730984	37731103
ENSE00000982372	37732304	37732440
ENSE00000982373	37733473	37733599
ENSE00000982374	37733730	37733825
ENSE00000982375	37735552	37735734
ENSE00001048539	37740078	37740884
ENSE00001048542	37744389	37746904
ENSE00001048543	37737096	37737243
ENSE00001475060	37692638	37692742
ENSE00001475061	37650954	37651094
ENSE00003461268	37724225	37724320
ENSE00003477548	37719069	37719176

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 83.24.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9341 / max 438.2372, expressed in 184 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96740	0.3717	146
96741	0.2725	7
96739	0.1698	79
96743	0.0479	4
96742	0.0446	6
96744	0.0147	3
96738	0.0131	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal root ganglion	UBERON:0000044	83.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.98	gold quality
right testis	UBERON:0004534	75.46	gold quality
left testis	UBERON:0004533	73.99	gold quality
parotid gland	UBERON:0001831	73.84	gold quality
testis	UBERON:0000473	73.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	70.11	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.67	silver quality
skin of leg	UBERON:0001511	68.26	gold quality
trigeminal ganglion	UBERON:0001675	67.48	gold quality
skin of abdomen	UBERON:0001416	67.13	gold quality
muscle of leg	UBERON:0001383	66.74	gold quality
prefrontal cortex	UBERON:0000451	66.66	gold quality
gastrocnemius	UBERON:0001388	66.40	gold quality
zone of skin	UBERON:0000014	66.17	gold quality
pigmented layer of retina	UBERON:0001782	65.80	silver quality
muscle organ	UBERON:0001630	65.08	gold quality
apex of heart	UBERON:0002098	64.10	gold quality
upper leg skin	UBERON:0004262	64.03	gold quality
right frontal lobe	UBERON:0002810	63.50	gold quality
caudate nucleus	UBERON:0001873	63.30	gold quality
frontal cortex	UBERON:0001870	63.01	gold quality
cingulate cortex	UBERON:0003027	62.98	gold quality
anterior cingulate cortex	UBERON:0009835	62.76	gold quality
islet of Langerhans	UBERON:0000006	62.60	gold quality
putamen	UBERON:0001874	62.49	gold quality
neocortex	UBERON:0001950	62.35	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.08	gold quality
skeletal muscle tissue	UBERON:0001134	61.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting FRMPD1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
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-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-5684	93.17	64.85	454

Literature-anchored findings (GeneRIF, showing 3)

• The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. (PMID:18566450)
• LGN-TPR motifs are versatile and capable of recognizing multiple targets via diverse binding modes. (PMID:23318951)
• G allele at rs4878712 in FRMPD1 was associated with lower HIV-1 acquisition. G allele at this SNP was also associated with reduced FBXO10 and increased BCL2 expression levels, whereas higher BCL2 levels are known to reduce HIV replication and infectivity. (PMID:25786224)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	frmpd1a	ENSDARG00000079074
mus_musculus	Frmpd1	ENSMUSG00000035615
rattus_norvegicus	Frmpd1	ENSRNOG00000012546
drosophila_melanogaster	CG42788	FBGN0261859
caenorhabditis_elegans		WBGENE00001494

Paralogs (2): FRMPD3 (ENSG00000147234), FRMPD4 (ENSG00000169933)

Protein

Protein identifiers

FERM and PDZ domain-containing protein 1 — Q5SYB0 (reviewed: Q5SYB0)

Alternative names: FERM domain-containing protein 2

All UniProt accessions (2): Q5SYB0, F5H0G3

UniProt curated annotations — full annotation on UniProt →

Function. Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.

Subunit / interactions. Interacts with GPSM1. Interacts with GPSM2 (via TPR repeat region).

Subcellular location. Cytoplasm. Cytosol. Cell membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5SYB0-1	1	yes
Q5SYB0-2	2
Q5SYB0-3	3

RefSeq proteins (4): NP_001358152, NP_001358153, NP_001358154, NP_055722* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR001478	PDZ	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR041779	FRMPD1/3/4_FERM_C	Domain

Pfam: PF00373, PF00595

UniProt features (45 total): compositionally biased region 7, sequence variant 7, region of interest 7, strand 6, splice variant 5, sequence conflict 5, mutagenesis site 3, domain 2, chain 1, turn 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4G2V	X-RAY DIFFRACTION	2.4
2EDV	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SYB0-F1	53.30	0.16

Functional residue map

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

Mutagenesis-validated functional residues (3):

Position	Phenotype
924	abolishes interaction with gpsm2.
929	strongly reduces gpsm2 binding.
931	strongly reduces gpsm2 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 82 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MYOD_01, OCT1_03, chr9p13, HFH4_01, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_RESPONSE_TO_RADIATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, RYTTCCTG_ETS2_B, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_LOCALIZATION_WITHIN_MEMBRANE, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN

GO Biological Process (6): regulation of G protein-coupled receptor signaling pathway (GO:0008277), protein transport (GO:0015031), light adaption (GO:0036367), establishment of protein localization to membrane (GO:0090150), response to light intensity (GO:0009642), establishment of protein localization (GO:0045184)

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

GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell cortex (GO:0005938), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
establishment of protein localization	2
cytoplasm	2
cell periphery	2
G protein-coupled receptor signaling pathway	1
regulation of signal transduction	1
transport	1
intracellular protein localization	1
response to light intensity	1
localization within membrane	1
response to light stimulus	1
establishment of localization	1
binding	1
membrane	1
cellular_component	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRMPD1	GPSM1	Q86YR5	700
FRMPD1	FBXO10	Q9UK96	669
FRMPD1	SLC25A51	Q9H1U9	566
FRMPD1	MCTP2	Q6DN12	560
FRMPD1	TMEM51	Q9NW97	503
FRMPD1	RIC8A	Q9NPQ8	501
FRMPD1	CPNE5	Q9HCH3	491
FRMPD1	FLAD1	Q8NFF5	488
FRMPD1	OR56B1	Q8NGI3	480
FRMPD1	GCNA	Q96QF7	472
FRMPD1	SLITRK5	O94991	460
FRMPD1	SPATS2L	Q9NUQ6	460
FRMPD1	RAB28	P51157	458
FRMPD1	DCAF10	Q5QP82	458
FRMPD1	SLC2A13	Q96QE2	449
FRMPD1	KCTD12	Q96CX2	449

IntAct

548 interactions, top by confidence:

A	B	Type	Score
SCRIB	FRMPD1	psi-mi:“MI:0407”(direct interaction)	0.620
FRMPD1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.620
MAGEA6	FRMPD1	psi-mi:“MI:0915”(physical association)	0.560
FRMPD1	MAGEA6	psi-mi:“MI:0915”(physical association)	0.560
AP2B1	FRMPD1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF12	FRMPD1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF11	FRMPD1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI2	FRMPD1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD1	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (9): FRMPD1 (Two-hybrid), FRMPD1 (Synthetic Lethality), FRMPD1 (Affinity Capture-MS), FRMPD1 (Affinity Capture-RNA), FRMPD1 (Affinity Capture-MS), FRMPD1 (Cross-Linking-MS (XL-MS)), GNA13 (Cross-Linking-MS (XL-MS)), FRMPD1 (Affinity Capture-MS), FRMPD1 (Affinity Capture-Western)

ESM2 similar proteins: A0A494C086, A0A494C0Z2, A0A494C191, A0JPH4, A6NHP3, A6NIY4, A6NJR5, A6NLX3, A6NNV3, A6QLI5, B0BNE4, O08918, O60543, O70302, O75916, P0CI01, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P24864, P39949, P49805, Q12967, Q495Y7, Q495Y8, Q4VXA5, Q4ZIN3, Q5IBH6, Q5IBH7, Q5MJ70, Q5SYB0, Q5XIQ2, Q5ZJR9, Q61457, Q6AYG1

Diamond homologs: A2AFR3, A2AKB4, E2QYC9, F1MAD2, O62683, O95049, Q14CM0, Q5JV73, Q5SYB0, Q63ZW7, Q8NI35, Q9QXY1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 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
Ras activation upon Ca2+ influx through NMDA receptor	6	35.3×	9e-07
Unblocking of NMDA receptors, glutamate binding and activation	6	33.6×	9e-07
Negative regulation of NMDA receptor-mediated neuronal transmission	6	33.6×	9e-07
Long-term potentiation	6	29.4×	2e-06
Neurexins and neuroligins	12	24.4×	2e-11
Assembly and cell surface presentation of NMDA receptors	9	23.6×	3e-08
RHOQ GTPase cycle	9	16.8×	3e-07
Protein-protein interactions at synapses	5	13.7×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	38.5×	1e-09
protein localization to synapse	6	33.8×	5e-06
receptor clustering	7	32.1×	8e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	6	21.9×	3e-05
positive regulation of excitatory postsynaptic potential	5	19.4×	4e-04
Rho protein signal transduction	7	12.8×	1e-04
bicellular tight junction assembly	5	12.2×	3e-03
protein-containing complex assembly	11	9.2×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	243
Likely benign	22
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

3990 predictions. Top by Δscore:

Variant	Effect	Δscore
9:37692738:GCCCG:G	donor_gain	1.0000
9:37692743:G:GG	donor_gain	1.0000
9:37693158:TG:T	donor_gain	1.0000
9:37707516:GAC:G	donor_gain	1.0000
9:37707569:AGCAG:A	donor_loss	1.0000
9:37707571:CAGG:C	donor_loss	1.0000
9:37707572:AGGTA:A	donor_loss	1.0000
9:37707573:GGTAG:G	donor_loss	1.0000
9:37707574:GTAG:G	donor_loss	1.0000
9:37707575:T:A	donor_loss	1.0000
9:37708396:CA:C	acceptor_loss	1.0000
9:37708397:A:AG	acceptor_gain	1.0000
9:37708397:A:AT	acceptor_loss	1.0000
9:37708397:AGGAG:A	acceptor_gain	1.0000
9:37708398:G:GG	acceptor_gain	1.0000
9:37708398:GGA:G	acceptor_gain	1.0000
9:37708398:GGAGG:G	acceptor_gain	1.0000
9:37708497:CTCAG:C	donor_loss	1.0000
9:37708498:TCAG:T	donor_loss	1.0000
9:37708499:CAG:C	donor_loss	1.0000
9:37708500:AGG:A	donor_loss	1.0000
9:37708501:GGT:G	donor_loss	1.0000
9:37708502:G:A	donor_loss	1.0000
9:37708503:T:G	donor_loss	1.0000
9:37719063:TTTCA:T	acceptor_loss	1.0000
9:37719064:TTCAG:T	acceptor_loss	1.0000
9:37719065:TCAG:T	acceptor_loss	1.0000
9:37719066:CAGG:C	acceptor_loss	1.0000
9:37719067:A:G	acceptor_loss	1.0000
9:37719067:AG:A	acceptor_gain	1.0000

AlphaMissense

10331 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:37732368:T:C	L308P	0.999
9:37732374:C:A	A310D	0.999
9:37732377:T:C	L311P	0.999
9:37732392:G:C	R316P	0.999
9:37733480:T:A	W335R	0.999
9:37733480:T:C	W335R	0.999
9:37733496:T:C	F340S	0.999
9:37733550:T:A	I358N	0.999
9:37733767:T:C	L387P	0.999
9:37724256:T:C	L183P	0.998
9:37724292:T:C	F195S	0.998
9:37732304:A:C	S287R	0.998
9:37732306:C:A	S287R	0.998
9:37732306:C:G	S287R	0.998
9:37732362:T:A	L306H	0.998
9:37732362:T:C	L306P	0.998
9:37732373:G:C	A310P	0.998
9:37733499:T:A	I341K	0.998
9:37731060:T:C	L272P	0.997
9:37731093:T:C	L283P	0.997
9:37731095:T:G	Y284D	0.997
9:37732368:T:A	L308H	0.997
9:37732370:G:C	A309P	0.997
9:37732371:C:A	A309E	0.997
9:37732383:T:A	I313N	0.997
9:37733495:T:C	F340L	0.997
9:37733497:T:A	F340L	0.997
9:37733497:T:G	F340L	0.997
9:37733542:G:C	K355N	0.997
9:37733542:G:T	K355N	0.997

dbSNP variants (sampled 300 via entrez): RS1000012590 (9:37657287 A>C), RS1000025185 (9:37740330 G>A), RS1000034277 (9:37686360 A>G), RS1000041152 (9:37613746 A>G), RS1000053410 (9:37655917 C>G), RS1000076787 (9:37685724 G>A), RS1000082075 (9:37691114 G>A), RS1000107614 (9:37698604 C>CAGGCTGG), RS1000109708 (9:37742079 C>T), RS1000118737 (9:37650656 G>C), RS1000132770 (9:37619968 C>A,T), RS1000147978 (9:37657588 C>G), RS1000166558 (9:37638968 G>A), RS1000193951 (9:37663015 C>T), RS1000204624 (9:37703647 C>G)

Disease associations

OMIM: gene MIM:616919 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): hepatoblastoma (MONDO:0018666)

Orphanet (1): Hepatoblastoma (Orphanet:449)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002818_3	HIV-1 susceptibility	7.000000e-07
GCST002818_4	HIV-1 susceptibility	5.000000e-08
GCST002818_5	HIV-1 susceptibility	4.000000e-07
GCST002818_7	HIV-1 susceptibility	5.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000180	HIV-1 infection

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018197	Hepatoblastoma	C04.557.435.380

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, affects methylation, affects cotreatment	1
sodium arsenate	decreases expression, increases abundance	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
ferrous chloride	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Dactinomycin	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	affects expression	1
Triclosan	increases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03017326	PHASE3	ACTIVE_NOT_RECRUITING	Paediatric Hepatic International Tumour Trial
NCT03533582	PHASE3	ACTIVE_NOT_RECRUITING	Cisplatin and Combination Chemotherapy in Treating Children and Young Adults With Hepatoblastoma or Liver Cancer After Surgery
NCT04478292	PHASE3	RECRUITING	A Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy
NCT01154816	PHASE2	COMPLETED	Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia
NCT02011126	PHASE2	WITHDRAWN	Imetelstat Sodium in Treating Younger Patients With Relapsed or Refractory Solid Tumors
NCT02867592	PHASE2	ACTIVE_NOT_RECRUITING	Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
NCT03233204	PHASE2	COMPLETED	Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
NCT03526250	PHASE2	COMPLETED	Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT05302921	PHASE2	COMPLETED	Neoadjuvant Dual Checkpoint Inhibition and Cryoablation in Relapsed/Refractory Pediatric Solid Tumors
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT07300449	PHASE2	RECRUITING	A Prospective Multicenter Clinical Study of SCCG Protocol and ctDNA 5hmc in Predicting the Chemotherapy Sensitivity and Monitoring the Recurrence and Metastasis of Hepatoblastoma in Children and Adolescents
NCT01331135	PHASE1	COMPLETED	Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors
NCT02390843	PHASE1	COMPLETED	Simvastatin With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors
NCT03618381	PHASE1	ACTIVE_NOT_RECRUITING	EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults
NCT04093648	PHASE1	WITHDRAWN	T Cells co- Expressing a Second Generation Glypican 3-specific Chimeric Antigen Receptor With Cytokines Interleukin-21 and 15 as Immunotherapy for Patients With Liver Cancer (TEGAR)
NCT04308330	PHASE1	RECRUITING	Vorinostat in Combination With Chemotherapy in Relapsed/Refractory Solid Tumors and CNS Malignancies
NCT04337177	PHASE1	ACTIVE_NOT_RECRUITING	Flavored, Oral Irinotecan VAL-413 (Orotecan®) Given With Temozolomide for Treatment of Recurrent Pediatric Solid Tumors
NCT04483778	PHASE1	ACTIVE_NOT_RECRUITING	B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults
NCT04897321	PHASE1	RECRUITING	B7-H3-Specific Chimeric Antigen Receptor Autologous T-Cell Therapy for Pediatric Patients With Solid Tumors (3CAR)
NCT06198296	PHASE1	RECRUITING	Immunotherapy For Adults With GPC3-Positive Solid Tumors Using IL-15 and IL-21 Armored GPC3-CAR T Cells
NCT07148050	PHASE1	RECRUITING	Immunotherapy for Solid Tumor Malignancies in Pediatrics Using Interleukin-15 and -21 Armored Glypican-3-specific Chimeric Antigen Receptor T Cells
NCT03728543	PHASE2/PHASE3	UNKNOWN	the Efficacy and Safety of Sugammadex in Children 0-2 Years Old
NCT05322187	PHASE2/PHASE3	UNKNOWN	Sequential PD-1/PD-L1 Inhibitor and LENvatinib in TLCT and Refractory Hepatoblastoma After Chemotherapy
NCT00179816	PHASE1/PHASE2	UNKNOWN	Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors
NCT01125800	PHASE1/PHASE2	COMPLETED	A Phase I Dose Finding and Safety Study of Oral LDE225 in Children and a Phase II Portion to Assess Preliminary Efficacy in Recurrent or Refractory MB
NCT04634357	PHASE1/PHASE2	RECRUITING	ET140203 T Cells in Pediatric Subjects With Hepatoblastoma, HCN-NOS, or Hepatocellular Carcinoma
NCT04851119	PHASE1/PHASE2	RECRUITING	Tegavivint for the Treatment of Recurrent or Refractory Solid Tumors, Including Lymphomas and Desmoid Tumors
NCT04901702	PHASE1/PHASE2	RECRUITING	Study of Onivyde With Talazoparib or Temozolomide in Children With Recurrent Solid Tumors and Ewing Sarcoma