NYNRIN

Summary

NYNRIN (NYN domain and retroviral integrase containing, HGNC:20165) is a protein-coding gene on chromosome 14q12, encoding Protein NYNRIN (Q9P2P1).

Predicted to enable RNA endonuclease activity and mRNA binding activity. Predicted to be involved in DNA integration; DNA synthesis involved in DNA repair; and DNA-templated DNA replication. Predicted to be located in membrane. Predicted to be active in cytoplasmic ribonucleoprotein granule and nucleus.

Source: NCBI Gene 57523 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary Wilms tumor (Moderate, GenCC)
• GWAS associations: 23
• Clinical variants (ClinVar): 541 total
• MANE Select transcript: NM_025081

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20165
Approved symbol	NYNRIN
Name	NYN domain and retroviral integrase containing
Location	14q12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11811, CGIN1
Ensembl gene	ENSG00000205978
Ensembl biotype	protein_coding
OMIM	620129
Entrez	57523

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000382554, ENST00000554505, ENST00000938047

RefSeq mRNA: 1 — MANE Select: NM_025081 NM_025081

CCDS: CCDS45090

Canonical transcript exons

ENST00000382554 — 9 exons

Exon	Start	End
ENSE00001192815	24407869	24408527
ENSE00001192827	24408652	24410208
ENSE00001492599	24399230	24399444
ENSE00001492600	24399003	24399086
ENSE00001637427	24414596	24419283
ENSE00001667281	24411076	24411206
ENSE00001801977	24411354	24411450
ENSE00003561380	24412997	24413098
ENSE00003628694	24413316	24413417

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 93.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2665 / max 112.9191, expressed in 1308 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139039	6.1808	1279
139041	1.2427	544
139037	0.5090	304
139038	0.1882	102
139040	0.1456	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	93.61	gold quality
cerebellar hemisphere	UBERON:0002245	93.43	gold quality
cerebellar cortex	UBERON:0002129	93.19	gold quality
right ovary	UBERON:0002118	92.68	gold quality
left ovary	UBERON:0002119	92.31	gold quality
cerebellum	UBERON:0002037	91.17	gold quality
ganglionic eminence	UBERON:0004023	90.35	gold quality
ovary	UBERON:0000992	89.94	gold quality
cauda epididymis	UBERON:0004360	88.45	gold quality
right uterine tube	UBERON:0001302	88.33	gold quality
endocervix	UBERON:0000458	87.81	gold quality
stromal cell of endometrium	CL:0002255	87.69	gold quality
ectocervix	UBERON:0012249	87.68	gold quality
corpus epididymis	UBERON:0004359	87.32	gold quality
cortical plate	UBERON:0005343	87.20	gold quality
apex of heart	UBERON:0002098	86.94	gold quality
body of uterus	UBERON:0009853	85.92	gold quality
vagina	UBERON:0000996	85.87	gold quality
left uterine tube	UBERON:0001303	85.73	gold quality
ventricular zone	UBERON:0003053	85.34	gold quality
gall bladder	UBERON:0002110	84.81	gold quality
skin of leg	UBERON:0001511	84.11	gold quality
embryo	UBERON:0000922	83.56	gold quality
mucosa of stomach	UBERON:0001199	82.89	gold quality
skin of abdomen	UBERON:0001416	82.50	gold quality
esophagus mucosa	UBERON:0002469	81.77	gold quality
female reproductive system	UBERON:0000474	81.74	gold quality
zone of skin	UBERON:0000014	81.70	gold quality
right lobe of thyroid gland	UBERON:0001119	81.55	gold quality
right coronary artery	UBERON:0001625	81.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.00
E-MTAB-6075	no	112.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

104 targeting NYNRIN, 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-6129	100.00	66.46	2080
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-5680	99.91	69.83	3421
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-506-3P	99.89	73.55	3057

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	khnyn	ENSDARG00000092488
mus_musculus	Nynrin	ENSMUSG00000075592
rattus_norvegicus	Nynrin	ENSRNOG00000048431
drosophila_melanogaster	Regnase-1	FBGN0038769
drosophila_melanogaster	CG42360	FBGN0259742
caenorhabditis_elegans		WBGENE00013107
caenorhabditis_elegans	rege-1	WBGENE00016260
caenorhabditis_elegans		WBGENE00021287
caenorhabditis_elegans		WBGENE00021998
caenorhabditis_elegans		WBGENE00022003

Paralogs (6): KHNYN (ENSG00000100441), ZC3H12B (ENSG00000102053), N4BP1 (ENSG00000102921), ZC3H12C (ENSG00000149289), ZC3H12A (ENSG00000163874), ZC3H12D (ENSG00000178199)

Protein

Protein identifiers

Protein NYNRIN — Q9P2P1 (reviewed: Q9P2P1)

Alternative names: NYN domain and retroviral integrase catalytic domain-containing protein, Protein cousin of GIN1

All UniProt accessions (1): Q9P2P1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Miscellaneous. The gene encoding this protein may have arisen from the fusion of a cellular gene with retroviral sequences prior to the marsupial-eutherian split. Sequence and structural analyses suggest that the integrase catalytic domain is inactive.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P2P1-1	1	yes
Q9P2P1-2	2

RefSeq proteins (1): NP_079357* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001584	Integrase_cat-core	Domain
IPR002156	RNaseH_domain	Domain
IPR012337	RNaseH-like_sf	Homologous_superfamily
IPR021869	RNase_Zc3h12_NYN	Domain
IPR036397	RNaseH_sf	Homologous_superfamily
IPR041577	RT_RNaseH_2	Domain
IPR041588	Integrase_H2C2	Domain
IPR043128	Rev_trsase/Diguanyl_cyclase	Homologous_superfamily
IPR043502	DNA/RNA_pol_sf	Homologous_superfamily
IPR051101	ZC3H12/N4BP1_RNase_Reg	Family
IPR056629	KH_N4BP1_1st	Domain
IPR056630	KH_N4BP1_2nd	Domain

Pfam: PF11977, PF17919, PF17921, PF23050, PF23052

UniProt features (24 total): region of interest 6, sequence variant 5, compositionally biased region 3, splice variant 3, domain 3, transmembrane region 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2P1-F1	60.04	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 130 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_INTEGRATION, chr14q12, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, KIM_WT1_TARGETS_12HR_UP, GOBP_DNA_REPLICATION, GOCC_RIBONUCLEOPROTEIN_GRANULE

GO Biological Process (4): DNA synthesis involved in DNA repair (GO:0000731), DNA-templated DNA replication (GO:0006261), DNA integration (GO:0015074), biological_process (GO:0008150)

GO Molecular Function (5): mRNA binding (GO:0003729), RNA endonuclease activity (GO:0004521), RNA-DNA hybrid ribonuclease activity (GO:0004523), molecular_function (GO:0003674), nucleic acid binding (GO:0003676)

GO Cellular Component (4): nucleus (GO:0005634), membrane (GO:0016020), cytoplasmic ribonucleoprotein granule (GO:0036464), cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA repair	1
DNA biosynthetic process	1
DNA replication	1
DNA metabolic process	1
RNA binding	1
endonuclease activity	1
RNA nuclease activity	1
RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
cytoplasm	1
ribonucleoprotein granule	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NYNRIN	SMIM24	O75264	660
NYNRIN	KRABD2	Q6ZNG9	626
NYNRIN	CPXM1	Q96SM3	621
NYNRIN	SDR39U1	Q9NRG7	589
NYNRIN	ARHGAP22	Q7Z5H3	570
NYNRIN	CBLN3	Q6UW01	558
NYNRIN	STOML1	Q9UBI4	540
NYNRIN	LAPTM4B	Q86VI4	523
NYNRIN	BEX3	Q00994	518
NYNRIN	STXBP6	Q8NFX7	509
NYNRIN	MMRN1	Q13201	478
NYNRIN	RNF17	Q9BXT8	472
NYNRIN	ZBTB46	Q86UZ6	472
NYNRIN	ADGRG1	Q9Y653	448
NYNRIN	POGK	Q9P215	439

IntAct

20 interactions, top by confidence:

A	B	Type	Score
OPG200	IKBKB	psi-mi:“MI:0914”(association)	0.620
SAV1	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
CRYAB	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CDH8	ARVCF	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
TAF1C	DNAJA2	psi-mi:“MI:0914”(association)	0.530
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
CRYAB		psi-mi:“MI:0914”(association)	0.350
CDH8	ARVCF	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
PTGES3	KIFBP	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
CRYAA	TRIM24	psi-mi:“MI:0914”(association)	0.350
CRYAB	HTRA2	psi-mi:“MI:0914”(association)	0.350
FAM167A	VWA8	psi-mi:“MI:0914”(association)	0.350
NYNRIN	AGTPBP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): NYNRIN (Two-hybrid), NYNRIN (Affinity Capture-MS), NYNRIN (Affinity Capture-MS), NYNRIN (Affinity Capture-MS), NYNRIN (Affinity Capture-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS), NYNRIN (Proximity Label-MS)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: A0JPN4, A2A288, A6QQJ8, O15037, O75113, Q1LVK9, Q5D1E7, Q5D1E8, Q5DTV4, Q5DTZ0, Q5HYM0, Q5ZLE9, Q6A037, Q6DJS0, Q7ZXG4, Q80U38, Q8BIY3, Q95YE2, Q9C0D7, Q9P2P1, A6NKG5, Q8I7P9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	5	14.5×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	385
Likely benign	111
Benign	26

Top pathogenic / likely-pathogenic (0)

SpliceAI

1555 predictions. Top by Δscore:

Variant	Effect	Δscore
14:24399107:G:GT	donor_gain	1.0000
14:24399441:CAAGG:C	donor_loss	1.0000
14:24399443:AGG:A	donor_loss	1.0000
14:24399445:G:GG	donor_gain	1.0000
14:24399446:T:G	donor_loss	1.0000
14:24411065:C:CA	acceptor_gain	1.0000
14:24411075:GGCAT:G	acceptor_gain	1.0000
14:24411346:A:AG	acceptor_gain	1.0000
14:24411347:C:G	acceptor_gain	1.0000
14:24411351:CA:C	acceptor_loss	1.0000
14:24411352:A:AG	acceptor_gain	1.0000
14:24411353:G:GA	acceptor_gain	1.0000
14:24411353:G:GT	acceptor_loss	1.0000
14:24411353:GA:G	acceptor_gain	1.0000
14:24411353:GAGA:G	acceptor_gain	1.0000
14:24411447:ATAGG:A	donor_loss	1.0000
14:24411448:TAGGT:T	donor_loss	1.0000
14:24411449:AGGTG:A	donor_loss	1.0000
14:24412383:T:TA	acceptor_gain	1.0000
14:24412688:GAAT:G	donor_gain	1.0000
14:24412692:G:GG	donor_gain	1.0000
14:24412993:GCA:G	acceptor_loss	1.0000
14:24412994:CA:C	acceptor_loss	1.0000
14:24412995:A:AG	acceptor_gain	1.0000
14:24412995:A:AT	acceptor_loss	1.0000
14:24412995:AG:A	acceptor_gain	1.0000
14:24412996:G:GA	acceptor_gain	1.0000
14:24412996:GG:G	acceptor_gain	1.0000
14:24412996:GGTT:G	acceptor_gain	1.0000
14:24412996:GGTTC:G	acceptor_gain	1.0000

AlphaMissense

12303 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:24410190:G:A	G799D	0.999
14:24411107:G:A	G816R	0.999
14:24411107:G:C	G816R	0.999
14:24413038:T:A	V895D	0.999
14:24413348:T:C	F926S	0.999
14:24410184:T:A	I797N	0.998
14:24410189:G:C	G799R	0.998
14:24410202:C:A	A803D	0.998
14:24411080:G:C	G807R	0.998
14:24411101:T:C	C814R	0.998
14:24411103:C:G	C814W	0.998
14:24411105:G:C	R815P	0.998
14:24411114:C:A	A818D	0.998
14:24411162:T:A	V834E	0.998
14:24411375:T:C	L856P	0.998
14:24411393:T:C	L862P	0.998
14:24416958:T:A	W1737R	0.998
14:24416958:T:C	W1737R	0.998
14:24411081:G:A	G807D	0.997
14:24411081:G:T	G807V	0.997
14:24411102:G:A	C814Y	0.997
14:24411108:G:A	G816E	0.997
14:24411119:G:C	A820P	0.997
14:24411176:T:A	W839R	0.997
14:24411176:T:C	W839R	0.997
14:24411366:T:C	L853P	0.997
14:24413321:T:C	L917P	0.997
14:24413327:T:C	F919S	0.997
14:24413332:T:C	F921L	0.997
14:24413334:T:A	F921L	0.997

dbSNP variants (sampled 300 via entrez): RS1000110992 (14:24406350 A>G), RS1000123539 (14:24402600 G>A,C), RS1000712896 (14:24407835 G>A), RS1000775267 (14:24413711 T>C), RS1000777789 (14:24409339 G>A), RS1000820015 (14:24400911 T>A), RS1000822050 (14:24414164 A>G), RS1001041067 (14:24413759 A>G), RS1001630854 (14:24399362 T>A), RS1001934184 (14:24399104 G>A,C), RS1001957739 (14:24398009 C>T), RS1002218517 (14:24401521 G>A), RS1002264299 (14:24410401 C>T), RS1002356178 (14:24410709 G>A,C,T), RS1002469716 (14:24415041 A>C,G,T)

Disease associations

OMIM: gene MIM:620129 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary Wilms tumor	Moderate	Autosomal recessive

Mondo (2): hepatoblastoma (MONDO:0018666), hereditary Wilms tumor (MONDO:0003321)

Orphanet (1): Hepatoblastoma (Orphanet:449)

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST002222_42	LDL cholesterol	3.000000e-15
GCST002898_9	LDL cholesterol	2.000000e-08
GCST004233_59	LDL cholesterol levels	2.000000e-14
GCST008077_68	LDL cholesterol levels	3.000000e-09
GCST008078_13	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-13
GCST008078_70	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-19
GCST008078_85	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-06
GCST008079_142	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6.000000e-21
GCST008079_18	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	4.000000e-14
GCST008086_50	LDL cholesterol levels in current drinkers	6.000000e-08
GCST008086_56	LDL cholesterol levels in current drinkers	1.000000e-12
GCST010118_96	Type 2 diabetes	1.000000e-09
GCST010204_114	Low density lipoprotein cholesterol levels	9.000000e-23
GCST010243_201	Apolipoprotein B levels	2.000000e-23
GCST010245_150	LDL cholesterol levels	1.000000e-19
GCST010836_9	Ischemic stroke	5.000000e-08
GCST90002384_333	Hemoglobin	1.000000e-09
GCST90002396_559	Mean reticulocyte volume	2.000000e-09
GCST90002401_70	Platelet distribution width	8.000000e-12
GCST90011898_22	Alanine aminotransferase levels	6.000000e-13
GCST90011900_111	Serum alkaline phosphatase levels	2.000000e-29
GCST90013405_10	Liver enzyme levels (alanine transaminase)	4.000000e-19
GCST90020029_396	Waist circumference adjusted for body mass index	3.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004615	apolipoprotein B measurement
EFO:0004509	hemoglobin measurement
EFO:0010701	mean reticulocyte volume
EFO:0007984	platelet component distribution width
EFO:0004533	alkaline phosphatase measurement
EFO:0007789	BMI-adjusted waist circumference

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

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

Chemical	Actions (top 5)	PubMed papers
Resveratrol	increases expression, decreases expression, affects cotreatment	2
Lipopolysaccharides	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
methylmercuric chloride	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Vorinostat	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, decreases expression	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

58 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
NCT01353300	Not specified	COMPLETED	Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
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