TRIP12

Summary

TRIP12 (thyroid hormone receptor interactor 12, HGNC:12306) is a protein-coding gene on chromosome 2q36.3, encoding E3 ubiquitin-protein ligase TRIP12 (Q14669). E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. It is haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53.

Source: NCBI Gene 9320 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 703 total — 64 pathogenic, 33 likely-pathogenic
• Phenotypes (HPO): 38
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001348323

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12306
Approved symbol	TRIP12
Name	thyroid hormone receptor interactor 12
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0045, ULF, TRIPC
Ensembl gene	ENSG00000153827
Ensembl biotype	protein_coding
OMIM	604506
Entrez	9320

Gene structure

Transcript identifiers

Ensembl transcripts: 86 — 75 protein_coding, 8 retained_intron, 3 nonsense_mediated_decay

ENST00000283943, ENST00000343290, ENST00000389044, ENST00000389045, ENST00000409677, ENST00000418123, ENST00000428959, ENST00000430954, ENST00000435716, ENST00000453485, ENST00000459841, ENST00000461189, ENST00000470302, ENST00000477441, ENST00000479037, ENST00000487178, ENST00000495322, ENST00000675423, ENST00000675453, ENST00000675903, ENST00000704577, ENST00000704578, ENST00000704579, ENST00000704580, ENST00000704581, ENST00000704582, ENST00000704583, ENST00000704584, ENST00000704585, ENST00000704586, ENST00000855111, ENST00000855112, ENST00000855113, ENST00000855114, ENST00000855115, ENST00000855116, ENST00000855117, ENST00000855118, ENST00000855119, ENST00000855120, ENST00000855121, ENST00000855122, ENST00000855123, ENST00000855124, ENST00000855125, ENST00000932274, ENST00000932275, ENST00000932276, ENST00000932277, ENST00000932278, ENST00000932279, ENST00000932280, ENST00000932281, ENST00000932282, ENST00000932283, ENST00000932284, ENST00000932285, ENST00000932286, ENST00000932287, ENST00000932288, ENST00000932289, ENST00000932290, ENST00000932291, ENST00000932292, ENST00000932293, ENST00000932294, ENST00000960281, ENST00000960282, ENST00000960283, ENST00000960284, ENST00000960285, ENST00000960286, ENST00000960287, ENST00000960288, ENST00000960289, ENST00000960290, ENST00000960291, ENST00000960292, ENST00000960293, ENST00000960294, ENST00000960295, ENST00000960296, ENST00000960297, ENST00000960298, ENST00000960299, ENST00000960300

RefSeq mRNA: 26 — MANE Select: NM_001348323 NM_001284214, NM_001284215, NM_001284216, NM_001348315, NM_001348316, NM_001348317, NM_001348318, NM_001348319, NM_001348320, NM_001348321, NM_001348322, NM_001348323, NM_001348324, NM_001348325, NM_001348326, NM_001348327, NM_001348328, NM_001348329, NM_001348330, NM_001348331, NM_001348332, NM_001348333, NM_001348334, NM_001348335, NM_001348336, NM_004238

CCDS: CCDS33391, CCDS63145, CCDS63146, CCDS92961, CCDS92962, CCDS92963, CCDS92964, CCDS92965, CCDS92966

Canonical transcript exons

ENST00000675903 — 42 exons

Exon	Start	End
ENSE00001012584	229778876	229778990
ENSE00001012586	229778433	229778587
ENSE00001012589	229771519	229771632
ENSE00001012590	229774097	229774261
ENSE00001012597	229796591	229796782
ENSE00001012598	229799283	229799383
ENSE00001012601	229787505	229787661
ENSE00001012602	229807708	229807864
ENSE00001012603	229769231	229769325
ENSE00001012608	229792973	229793145
ENSE00001012609	229795179	229795330
ENSE00001012611	229802252	229802459
ENSE00001155807	229789611	229789762
ENSE00001504758	229791124	229791251
ENSE00001504759	229791866	229792065
ENSE00001510539	229805730	229805883
ENSE00001510547	229860406	229860531
ENSE00001940595	229921880	229922009
ENSE00002228607	229788798	229788940
ENSE00002310311	229785757	229785855
ENSE00003460176	229879982	229880128
ENSE00003462555	229815273	229815308
ENSE00003473249	229808252	229808369
ENSE00003515596	229815099	229815194
ENSE00003523632	229803571	229803689
ENSE00003549126	229830756	229830839
ENSE00003556213	229777315	229777479
ENSE00003557124	229811136	229811204
ENSE00003579098	229814233	229814325
ENSE00003579916	229798875	229799049
ENSE00003585414	229858772	229859574
ENSE00003588386	229840822	229840927
ENSE00003591306	229803999	229804227
ENSE00003592677	229797690	229797831
ENSE00003597698	229829193	229829288
ENSE00003609432	229792153	229792226
ENSE00003635736	229813870	229814031
ENSE00003652845	229836848	229836984
ENSE00003666375	229810880	229811045
ENSE00003679901	229818364	229818512
ENSE00003786613	229768616	229768719
ENSE00003899161	229763837	229767750

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.2628 / max 332.6233, expressed in 1817 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34431	21.8937	1808
34429	14.5890	1769
34435	3.3882	1352
34432	2.9903	1496
34428	1.6502	784
34430	1.6270	989
34436	1.5181	883
34433	1.3394	885
34434	0.1935	61
34427	0.0735	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.87	gold quality
male germ cell	CL:0000015	98.71	gold quality
sperm	CL:0000019	98.69	gold quality
colonic epithelium	UBERON:0000397	98.54	gold quality
sural nerve	UBERON:0015488	97.90	gold quality
adrenal tissue	UBERON:0018303	97.86	gold quality
left testis	UBERON:0004533	97.82	gold quality
right testis	UBERON:0004534	97.80	gold quality
amniotic fluid	UBERON:0000173	97.51	gold quality
stromal cell of endometrium	CL:0002255	97.44	gold quality
testis	UBERON:0000473	97.43	gold quality
tendon	UBERON:0000043	97.40	gold quality
tonsil	UBERON:0002372	97.26	gold quality
gluteal muscle	UBERON:0002000	96.73	gold quality
trabecular bone tissue	UBERON:0002483	96.66	gold quality
bone marrow cell	CL:0002092	96.63	gold quality
olfactory bulb	UBERON:0002264	96.60	gold quality
ganglionic eminence	UBERON:0004023	96.60	gold quality
adult organism	UBERON:0007023	96.58	gold quality
cartilage tissue	UBERON:0002418	96.55	gold quality
esophagus squamous epithelium	UBERON:0006920	96.34	gold quality
ventricular zone	UBERON:0003053	96.32	gold quality
corpus callosum	UBERON:0002336	96.18	gold quality
corpus epididymis	UBERON:0004359	96.18	gold quality
tongue squamous epithelium	UBERON:0006919	96.14	gold quality
islet of Langerhans	UBERON:0000006	96.10	gold quality
oral cavity	UBERON:0000167	96.09	gold quality
epithelium of esophagus	UBERON:0001976	96.08	gold quality
gastrocnemius	UBERON:0001388	95.99	gold quality
type B pancreatic cell	CL:0000169	95.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1B

miRNA regulators (miRDB)

204 targeting TRIP12, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4692	100.00	67.32	2066
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1252-5P	100.00	69.80	2774
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-8485	100.00	77.57	4731
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 27)

• TRIP12 promotes degradation of APP-BP1 by catalyzing its ubiquitination, which in turn modulates the neddylation pathway. (PMID:18627766)
• The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway. (PMID:19028681)
• ULF is a bona fide E3 ligase for ARF and also suggest that ULF is an important target for activating the ARF-p53 axis in human acute myeloid leukaemia cells. (PMID:20699639)
• Data show that the mechanism of BAF155-mediated stabilization of BAF57 involves blocking its ubiquitination by preventing interaction with TRIP12. (PMID:20829358)
• we found somatic mutations of HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B genes in gastric carcinoma and colorectal carcinomas with microsatellite instability (PMID:22124266)
• data indicate that TRADD shuttles dynamically from the cytoplasm into the nucleus to modulate the interaction between p19(Arf) and its E3 ubiquitin ligase ULF, thereby promoting p19(Arf) protein stability and tumour suppression (PMID:22561347)
• Study shows that TRIP12 and UBR5, two HECT domain ubiquitin E3 ligases, control accumulation of RNF168, a rate-limiting component of a pathway that ubiquitylates histones after DNA breakage. (PMID:22884692)
• HUWE1 and TRIP12 collaborate in degradation of ubiquitin-fusion proteins and misframed ubiquitin. (PMID:23209776)
• An exon3-skipping event in TRIP12 was detected in acute myeloid leukemia patients at remission (PMID:24961348)
• Data indicate that E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 (TRIP12) promotes proteasomal degradation of pancreas transcription factor 1a (PTF1a)and regulates PTF1a activities. (PMID:25355311)
• p16 overexpression led to downregulation of TRIP12, which in turn led to increased RNF168 levels, repressed DNA damage repair (DDR), increased 53BP1 foci and enhanced radioresponsiveness. (PMID:27425591)
• modulatory role for Trip12 in the USP7-dependent DNA damage response (PMID:27800609)
• We describe the TRIP12-associated phenotype, showing that TRIP12 is a risk gene for non-syndromic intellectual disability with and without autism spectrum disorder, and that TRIP12 mutation carriers present with a broad phenotypic range within the neurodevelopmental phenotypes. (PMID:27848077)
• nine presented pathogenic variants further document that TRIP12 haploinsufficiency causes a childhood-onset neurodevelopmental disorder (PMID:28251352)
• Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. (PMID:31814248)
• The E3 ubiquitin ligase TRIP12 participates in cell cycle progression and chromosome stability. (PMID:31964993)
• Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations. (PMID:32424948)
• The Ubiquitin Ligase TRIP12 Limits PARP1 Trapping and Constrains PARP Inhibitor Efficiency. (PMID:32755579)
• TRIP12 promotes small-molecule-induced degradation through K29/K48-branched ubiquitin chains. (PMID:33567268)
• Proteasomal degradation of the tumour suppressor FBW7 requires branched ubiquitylation by TRIP12. (PMID:33824312)
• TRIP12 has an inhibitory role in Epithelial-Mesenchymal Transition (EMT) and possibly, metastasis (PMID:33963176)
• TRIP12 ubiquitination of glucocerebrosidase contributes to neurodegeneration in Parkinson’s disease. (PMID:34644545)
• Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. (PMID:36430143)
• Small molecule Z363 co-regulates TAF10 and MYC via the E3 ligase TRIP12 to suppress tumour growth. (PMID:36639831)
• The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. (PMID:36747006)
• Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage. (PMID:37108203)
• The E3 ubiquitin ligase TRIP12 is required for pancreatic acinar cell plasticity and pancreatic carcinogenesis. (PMID:38924548)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trip12	ENSDARG00000061397
mus_musculus	Trip12	ENSMUSG00000026219
rattus_norvegicus	Trip12	ENSRNOG00000016963

Paralogs (24): HECW1 (ENSG00000002746), UBE3C (ENSG00000009335), NEDD4L (ENSG00000049759), NEDD4 (ENSG00000069869), ITCH (ENSG00000078747), HACE1 (ENSG00000085382), HUWE1 (ENSG00000086758), HECTD1 (ENSG00000092148), UBR5 (ENSG00000104517), SMURF2 (ENSG00000108854), UBE3A (ENSG00000114062), AREL1 (ENSG00000119682), WWP1 (ENSG00000123124), HERC2 (ENSG00000128731), HECW2 (ENSG00000138411), HERC3 (ENSG00000138641), HERC6 (ENSG00000138642), HERC5 (ENSG00000138646), HERC4 (ENSG00000148634), UBE3B (ENSG00000151148), HECTD2 (ENSG00000165338), HECTD4 (ENSG00000173064), WWP2 (ENSG00000198373), SMURF1 (ENSG00000198742)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIP12 — Q14669 (reviewed: Q14669)

Alternative names: E3 ubiquitin-protein ligase for Arf, HECT-type E3 ubiquitin transferase TRIP12, Thyroid receptor-interacting protein 12

All UniProt accessions (17): Q14669, A0A6Q8PGG9, A0A6Q8PHK0, A0A994J4J0, A0A994J4J6, A0A994J4S0, A0A994J569, A0A994J752, A0A994J755, A0A994J7J0, C9JLD7, C9JLJ5, C9JSX9, F8W9P3, G5E9G6, H7C1L9, H7C2Y1

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins. Acts as a key regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of ‘Lys-63’-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes. In normal cells, mediates ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressor required for p53/TP53 activation under oncogenic stress. In cancer cells, however, isoform p19ARF/ARF and TRIP12 are located in different cell compartments, preventing isoform p19ARF/ARF ubiquitination and degradation. Does not mediate ubiquitination of isoform p16-INK4a of CDKN2A. Also catalyzes ubiquitination of NAE1 and SMARCE1, leading to their degradation. Ubiquitination and degradation of target proteins is regulated by interaction with proteins such as MYC, TRADD or SMARCC1, which disrupt the interaction between TRIP12 and target proteins. Mediates ubiquitination of ASXL1: following binding to N(6)-methyladenosine methylated DNA, ASXL1 is ubiquitinated by TRIP12, leading to its degradation and subsequent inactivation of the PR-DUB complex.

Subunit / interactions. Interacts with MYC; leading to disrupt interaction with isoform p19ARF/ARF of CDKN2A. Interacts with TRADD; leading to disrupt interaction with isoform p19ARF/ARF of CDKN2A. Interacts with SMARCC1; leading to disrupt interaction with SMARCE1.

Subcellular location. Nucleus. Nucleoplasm.

Disease relevance. Clark-Baraitser syndrome (CLABARS) [MIM:617752] An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Preferentially modifies ‘Lys-29’ in the proximal ubiquitin in a ‘Lys-48’-linked di-ubiquitin chain.

Domain organisation. The ARM domain allows tandem binding of ubiquitins.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the UPL family. K-HECT subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q14669-1	1	yes
Q14669-2	2
Q14669-3	3
Q14669-4	4
Q14669-6	5

RefSeq proteins (26): NP_001271143, NP_001271144, NP_001271145, NP_001335244, NP_001335245, NP_001335246, NP_001335247, NP_001335248, NP_001335249, NP_001335250, NP_001335251, NP_001335252, NP_001335253, NP_001335254, NP_001335255, NP_001335256, NP_001335257, NP_001335258, NP_001335259, NP_001335260, NP_001335261, NP_001335262, NP_001335263, NP_001335264, NP_001335265, NP_004229 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000569	HECT_dom	Domain
IPR004170	WWE_dom	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR035983	Hect_E3_ubiquitin_ligase	Homologous_superfamily
IPR037197	WWE_dom_sf	Homologous_superfamily
IPR045322	HECTD1/TRIP12-like	Family
IPR057948	TPR_TRIP12_N	Domain

Pfam: PF00632, PF25579

Enzyme classification (BRENDA):

• EC 2.3.2.26 — HECT-type E3 ubiquitin transferase (BRENDA: 14 organisms, 64 substrates, 19 inhibitors, 5 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[UBC5B]-L-LYSINE	0.0046–0.037	5

UniProt features (82 total): modified residue 20, compositionally biased region 17, sequence variant 8, splice variant 7, region of interest 6, repeat 6, mutagenesis site 5, strand 4, sequence conflict 2, domain 2, initiator methionine 1, chain 1, active site 1, helix 1, turn 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9BKS	X-RAY DIFFRACTION	1.17
9BKR	X-RAY DIFFRACTION	1.4
9GKN	ELECTRON MICROSCOPY	3.4
9KEN	ELECTRON MICROSCOPY	3.63
9GKM	ELECTRON MICROSCOPY	3.69

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14669-F1	68.06	0.27

Functional residue map

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

Catalytic / active sites (1): 2034 (glycyl thioester intermediate)

Post-translational modifications (20): 2, 12, 119, 127, 142, 223, 352, 354, 1017, 1066, 1072, 1091, 1105, 1392, 1397, 1404, 1451, 1452, 1500, 1502

Mutagenesis-validated functional residues (5):

Position	Phenotype
2034	abolishes e3 ubiquitin-protein ligase activity.
2037	abolishes e3 ubiquitin-protein ligase activity.
2039	abolishes e3 ubiquitin-protein ligase activity.
2067	impairs e3 ubiquitin-protein ligase activity.
2067	abolishes e3 ubiquitin-protein ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 298 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, WANG_LMO4_TARGETS_DN, TGTGTGA_MIR377, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_DNA_DAMAGE_RESPONSE, AAAGGGA_MIR204_MIR211

GO Biological Process (9): protein polyubiquitination (GO:0000209), DNA repair (GO:0006281), ubiquitin-dependent protein catabolic process (GO:0006511), DNA damage response (GO:0006974), heterochromatin boundary formation (GO:0033696), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), regulation of embryonic development (GO:0045995), DNA repair-dependent chromatin remodeling (GO:0140861), protein ubiquitination (GO:0016567)

GO Molecular Function (6): nuclear thyroid hormone receptor binding (GO:0046966), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), zinc ion binding (GO:0008270), transferase activity (GO:0016740)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	2
DNA damage response	2
cellular anatomical structure	2
DNA metabolic process	1
modification-dependent protein catabolic process	1
cellular response to stress	1
heterochromatin formation	1
heterochromatin organization	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
embryo development	1
regulation of multicellular organismal development	1
chromatin remodeling	1
protein modification by small protein conjugation	1
nuclear receptor binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
transition metal ion binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

3715 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIP12	RNF168	Q8IYW5	776
TRIP12	USP7	Q93009	726
TRIP12	UBE2S	Q16763	715
TRIP12	UBE2K	P27924	676
TRIP12	RNF146	Q9NTX7	605
TRIP12	PPIL4	Q8WUA2	590
TRIP12	UBE4B	O95155	575
TRIP12	SOX6	P35712	550
TRIP12	RAD18	Q9NS91	549
TRIP12	SMARCE1	Q969G3	549
TRIP12	TXNRD2	Q9NNW7	547
TRIP12	ANAPC10	Q9UM13	545
TRIP12	MED13L	Q71F56	543
TRIP12	ADNP	Q9H2P0	543
TRIP12	FBXO36	Q8NEA4	541

IntAct

154 interactions, top by confidence:

A	B	Type	Score
CAPN1	CAPNS1	psi-mi:“MI:0914”(association)	0.840
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
CFTR	XPO1	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
EIF3I	EIF3CL	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
TRIP12	MYC	psi-mi:“MI:0407”(direct interaction)	0.630
TRIP12	MYC	psi-mi:“MI:0915”(physical association)	0.630
TRIP12	MYC	psi-mi:“MI:0914”(association)	0.630
TRIP12	CDKN2A	psi-mi:“MI:0915”(physical association)	0.600
TRIP12	CDKN2A	psi-mi:“MI:0407”(direct interaction)	0.600
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
BCAT1	ARNT	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
OPCML	CANX	psi-mi:“MI:0914”(association)	0.530

BioGRID (324): TRIP12 (Reconstituted Complex), TRIP12 (Two-hybrid), TRIP12 (Affinity Capture-Western), PTF1A (Affinity Capture-Western), TRIP12 (FRET), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS), TRIP12 (Proximity Label-MS), TRIP12 (Biochemical Activity), TRIP12 (Proximity Label-MS)

ESM2 similar proteins: A8XEA2, B0WMG3, B2RRD7, B3M301, B3MIW0, B3MSI4, B3NU20, B4F6W9, B4GUZ2, B4I100, B4JMQ2, B4JW99, B4L6Q5, B4M7P8, B4NBP4, B4NP88, B4Q068, B4R4H1, C3XRY1, E1B7Q7, F1LP64, F1RCR6, G5E870, O01658, O16810, O60341, O88808, P50586, P55201, Q13416, Q14669, Q16W06, Q24168, Q63028, Q640I9, Q689Z5, Q6AW06, Q6P1G2, Q6ZQ88, Q756E1

Diamond homologs: A0A8C0NGY6, A1CQG2, A1D3C5, A2A5Z6, A2QQ28, A9JRZ0, B0XQ72, B8N7E5, D3ZBM7, D6C652, E1B7Q7, E1C656, F1LP64, F1N6G5, F8W2M1, G0S9J5, G5E870, H2LBU8, O00308, O08759, O13834, O14326, O15033, P39940, P40985, P46934, P46935, P46937, P46938, P51593, P53119, Q03280, Q05086, Q08CZ0, Q09291, Q0CCL1, Q14669, Q15034, Q15386, Q1K9C4

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
TRIP12	“down-regulates quantity by destabilization”	CDKN2A	ubiquitination
TRIP12	“down-regulates activity”	RNF168	ubiquitination
Ub:E2	“up-regulates activity”	TRIP12	ubiquitination
TRIP12	“down-regulates quantity by destabilization”	SOX6	ubiquitination
TRIP12	“down-regulates quantity by destabilization”	NAE1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 179 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
Activation of BAD and translocation to mitochondria	7	43.0×	4e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	37.9×	5e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	37.9×	5e-08
Activation of BH3-only proteins	7	28.0×	5e-07
Intrinsic Pathway for Apoptosis	9	21.2×	5e-08
RHO GTPases activate PKNs	7	17.9×	7e-06
FOXO-mediated transcription	5	13.5×	1e-03
SARS-CoV-1-host interactions	9	12.8×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	5	13.5×	6e-03
protein targeting	6	13.4×	1e-03
intracellular protein localization	10	6.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	64
Likely pathogenic	33
Uncertain significance	406
Likely benign	90
Benign	34

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1028708	NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs)	Pathogenic
1064786	NM_001348323.3(TRIP12):c.2118_2119insT (p.Thr707fs)	Pathogenic
1069025	NM_001348323.3(TRIP12):c.1857del (p.Glu619fs)	Pathogenic
1070789	NM_001348323.3(TRIP12):c.3968+1G>T	Pathogenic
1098379	NM_001348323.3(TRIP12):c.4646_4668del (p.Leu1549fs)	Pathogenic
1098392	NM_001348323.3(TRIP12):c.5215del (p.Gln1739fs)	Pathogenic
1164053	NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs)	Pathogenic
1175992	NM_001348323.3(TRIP12):c.4695+1G>A	Pathogenic
1184101	NM_001348323.3(TRIP12):c.3779del (p.Arg1260fs)	Pathogenic
1194542	NM_001348323.3(TRIP12):c.4995del (p.Lys1665fs)	Pathogenic
1285508	NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	Pathogenic
1326281	NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter)	Pathogenic
1700135	NM_001348323.3(TRIP12):c.4302_4303del (p.Tyr1435fs)	Pathogenic
1703055	NM_001348323.3(TRIP12):c.3816+2T>A	Pathogenic
1709568	NM_001348323.3(TRIP12):c.4216-2A>G	Pathogenic
1992332	NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)	Pathogenic
2258023	NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)	Pathogenic
2438549	NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs)	Pathogenic
2446125	NM_001348323.3(TRIP12):c.3787C>T (p.Arg1263Ter)	Pathogenic
2498135	NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter)	Pathogenic
2504746	NM_001348323.3(TRIP12):c.334C>T (p.Arg112Ter)	Pathogenic
2578429	NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)	Pathogenic
2579158	NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)	Pathogenic
2584503	NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)	Pathogenic
2627078	NM_001348323.3(TRIP12):c.1787_1800del (p.Met596fs)	Pathogenic
3062612	GRCh37/hg19 2q36.3(chr2:230591144-230654311)x1	Pathogenic
3063732	NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)	Pathogenic
3254927	NM_001348323.3(TRIP12):c.2624del (p.Pro875fs)	Pathogenic
3256549	NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)	Pathogenic
3340943	NM_001348323.3(TRIP12):c.3247C>T (p.Arg1083Ter)	Pathogenic

SpliceAI

6101 predictions. Top by Δscore:

Variant	Effect	Δscore
2:229767748:ATC:A	acceptor_gain	1.0000
2:229767749:TC:T	acceptor_gain	1.0000
2:229767750:CC:C	acceptor_gain	1.0000
2:229767750:CCTG:C	acceptor_loss	1.0000
2:229767751:C:CC	acceptor_gain	1.0000
2:229767751:C:T	acceptor_gain	1.0000
2:229767755:T:C	acceptor_gain	1.0000
2:229767755:T:TC	acceptor_gain	1.0000
2:229768715:CCCGA:C	acceptor_gain	1.0000
2:229768716:CCGA:C	acceptor_gain	1.0000
2:229768716:CCGAC:C	acceptor_gain	1.0000
2:229768717:CGA:C	acceptor_gain	1.0000
2:229768717:CGAC:C	acceptor_gain	1.0000
2:229768718:GA:G	acceptor_gain	1.0000
2:229768720:C:CC	acceptor_gain	1.0000
2:229769227:TTAC:T	donor_loss	1.0000
2:229769228:TA:T	donor_loss	1.0000
2:229769229:A:AC	donor_gain	1.0000
2:229769229:AC:A	donor_gain	1.0000
2:229769230:C:CA	donor_gain	1.0000
2:229769230:CC:C	donor_gain	1.0000
2:229769230:CCT:C	donor_gain	1.0000
2:229769230:CCTG:C	donor_gain	1.0000
2:229769230:CCTGT:C	donor_gain	1.0000
2:229769321:TCCAG:T	acceptor_gain	1.0000
2:229769322:CCAG:C	acceptor_gain	1.0000
2:229769322:CCAGC:C	acceptor_gain	1.0000
2:229769323:CAG:C	acceptor_gain	1.0000
2:229769323:CAGC:C	acceptor_gain	1.0000
2:229769324:AG:A	acceptor_gain	1.0000

AlphaMissense

13516 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:229767561:A:G	L1991P	1.000
2:229767566:G:C	F1989L	1.000
2:229767566:G:T	F1989L	1.000
2:229767567:A:G	F1989S	1.000
2:229767568:A:G	F1989L	1.000
2:229767579:C:T	G1985E	1.000
2:229767580:C:A	G1985W	1.000
2:229767580:C:G	G1985R	1.000
2:229767580:C:T	G1985R	1.000
2:229767591:G:T	A1981E	1.000
2:229767600:A:G	L1978P	1.000
2:229767631:A:C	Y1968D	1.000
2:229767631:A:G	Y1968H	1.000
2:229767636:G:C	P1966R	1.000
2:229767636:G:T	P1966Q	1.000
2:229767637:G:A	P1966S	1.000
2:229767639:A:C	L1965W	1.000
2:229767639:A:G	L1965S	1.000
2:229767641:C:A	K1964N	1.000
2:229767641:C:G	K1964N	1.000
2:229767643:T:C	K1964E	1.000
2:229767645:A:C	L1963R	1.000
2:229767645:A:G	L1963P	1.000
2:229767645:A:T	L1963H	1.000
2:229767648:T:C	Y1962C	1.000
2:229767649:A:C	Y1962D	1.000
2:229767649:A:G	Y1962H	1.000
2:229767649:A:T	Y1962N	1.000
2:229767650:G:C	N1961K	1.000
2:229767650:G:T	N1961K	1.000

dbSNP variants (sampled 300 via entrez): RS1000017238 (2:229922449 C>T), RS1000024289 (2:229916823 T>A,C), RS1000034276 (2:229855010 T>A), RS1000055648 (2:229874256 T>C), RS1000094298 (2:229843224 A>G), RS1000115869 (2:229904295 G>A), RS1000129906 (2:229922248 T>A,C), RS1000160056 (2:229781111 G>A), RS1000189630 (2:229773071 A>G), RS1000203445 (2:229907763 A>G), RS1000209519 (2:229856443 G>A), RS1000245540 (2:229774550 T>A,C), RS1000257310 (2:229768582 T>C,G), RS1000299121 (2:229843564 A>G), RS1000300182 (2:229814182 T>A,C)

Disease associations

OMIM: gene MIM:604506 | disease phenotypes: MIM:300602, MIM:617752

GenCC curated gene-disease

Disease	Classification	Inheritance
Clark-Baraitser syndrome	Definitive	Autosomal dominant
syndromic intellectual disability	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (6): Clark-Baraitser syndrome (MONDO:0030914), neurodevelopmental disorder (MONDO:0700092), prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071), self-limited familial infantile epilepsy (MONDO:0100024), syndromic intellectual disability (MONDO:0000508)

Orphanet (3): Clark-Baraitser syndrome (Orphanet:600731), Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

38 total (30 of 38 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000340	Sloping forehead
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000582	Upslanted palpebral fissure
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001513	Obesity
HP:0001852	Sandal gap

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST006624_12	Systolic blood pressure	6.000000e-11
GCST007876_21	Estimated glomerular filtration rate	5.000000e-09
GCST008058_269	Estimated glomerular filtration rate	5.000000e-08
GCST008059_224	Estimated glomerular filtration rate	3.000000e-07
GCST008152_138	Weight	6.000000e-06
GCST009391_883	Metabolite levels	5.000000e-06
GCST009391_886	Metabolite levels	8.000000e-06
GCST010151_7	Carotid intima media thickness x smoking interaction	8.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004338	body weight
EFO:0010439	triacylglycerol 58:12 measurement
EFO:0006527	smoking status measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C536208	Clark-Baraitser syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	3
Valproic Acid	affects expression, decreases expression	3
arsenite	decreases reaction, increases methylation, affects binding	2
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Quercetin	decreases expression, decreases phosphorylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
coumarin	decreases phosphorylation	1
nivalenol	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation, increases ADP-ribosylation	1
K 7174	increases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C7YX	HAP1 TRIP12 (-) 1	Cancer cell line	Male
CVCL_C7YY	HAP1 TRIP12 (-) 2	Cancer cell line	Male
CVCL_C7YZ	HAP1 TRIP12 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice