CTIF

Summary

CTIF (cap binding complex dependent translation initiation factor, HGNC:23925) is a protein-coding gene on chromosome 18q21.1, encoding CBP80/20-dependent translation initiation factor (O43310). Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC).

CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).

Source: NCBI Gene 9811 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 126 total — 1 pathogenic
• MANE Select transcript: NM_014772

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23925
Approved symbol	CTIF
Name	cap binding complex dependent translation initiation factor
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000134030
Ensembl biotype	protein_coding
OMIM	613178
Entrez	9811

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 36 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000256413, ENST00000382998, ENST00000587752, ENST00000587769, ENST00000587860, ENST00000588345, ENST00000589585, ENST00000590422, ENST00000591387, ENST00000591412, ENST00000592658, ENST00000865528, ENST00000865529, ENST00000865530, ENST00000865531, ENST00000865532, ENST00000865533, ENST00000865534, ENST00000865535, ENST00000865536, ENST00000865537, ENST00000865538, ENST00000865539, ENST00000912180, ENST00000912181, ENST00000912182, ENST00000959041, ENST00000959042, ENST00000959043, ENST00000959044, ENST00000959045, ENST00000959046, ENST00000959047, ENST00000959048, ENST00000959049, ENST00000959050, ENST00000959051, ENST00000959052, ENST00000959053, ENST00000959054, ENST00000959055

RefSeq mRNA: 2 — MANE Select: NM_014772 NM_001142397, NM_014772

CCDS: CCDS11935, CCDS45864

Canonical transcript exons

ENST00000256413 — 12 exons

Exon	Start	End
ENSE00001111108	48757919	48758405
ENSE00001111112	48761390	48761689
ENSE00001297798	48619538	48619745
ENSE00001855968	48859344	48863217
ENSE00001940052	48539031	48539312
ENSE00003458321	48670669	48670744
ENSE00003492805	48817221	48817376
ENSE00003548969	48663752	48663825
ENSE00003575429	48857588	48857641
ENSE00003635752	48664447	48664551
ENSE00003665944	48636614	48636685
ENSE00003784792	48711619	48711695

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 97.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0305 / max 300.1958, expressed in 1793 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170201	14.2386	1769
170203	8.1564	1503
170204	3.6569	1188
170202	0.6461	353
170208	0.5579	255
170205	0.3199	170
170206	0.2528	123
170207	0.2020	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primary visual cortex	UBERON:0002436	97.86	gold quality
superior frontal gyrus	UBERON:0002661	96.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.87	gold quality
hypothalamus	UBERON:0001898	95.74	gold quality
cortical plate	UBERON:0005343	95.60	gold quality
putamen	UBERON:0001874	95.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.38	gold quality
sural nerve	UBERON:0015488	95.36	gold quality
right frontal lobe	UBERON:0002810	95.34	gold quality
cerebral cortex	UBERON:0000956	94.82	gold quality
frontal cortex	UBERON:0001870	94.76	gold quality
anterior cingulate cortex	UBERON:0009835	94.75	gold quality
Ammon’s horn	UBERON:0001954	94.56	gold quality
substantia nigra	UBERON:0002038	94.40	gold quality
prefrontal cortex	UBERON:0000451	94.25	gold quality
temporal lobe	UBERON:0001871	94.09	gold quality
caudate nucleus	UBERON:0001873	94.09	gold quality
amygdala	UBERON:0001876	94.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.88	gold quality
nucleus accumbens	UBERON:0001882	93.76	gold quality
brain	UBERON:0000955	93.74	gold quality
cerebellum	UBERON:0002037	93.69	gold quality
cerebellar cortex	UBERON:0002129	93.66	gold quality
cerebellar hemisphere	UBERON:0002245	93.59	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.47	gold quality
lower esophagus	UBERON:0013473	93.44	gold quality
right coronary artery	UBERON:0001625	92.97	gold quality
popliteal artery	UBERON:0002250	92.92	gold quality
tibial artery	UBERON:0007610	92.91	gold quality
apex of heart	UBERON:0002098	92.83	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.09

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2

miRNA regulators (miRDB)

84 targeting CTIF, 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-3120-5P	100.00	65.56	965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-532-3P	99.34	65.76	1195

Literature-anchored findings (GeneRIF, showing 6)

• a new MIF4G domain-containing protein, CTIF that interacts directly with CBP80 and is part of the CBP80/20-dependent translation initiation complex [CBP80/20-dependent translation initiation factor, CTIF] (PMID:19648179)
• Study reveals that Ago2, but not Ago2F2V2, inhibits the binding of CBP80/20 to cap structure. (PMID:21840310)
• association of SNPs in LCP1 and CTIF with hearing (PMID:26264041)
• CTIF was identified as a novel PARylation target of the TNKS2 in the centrosomal region of cells, which plays a role in the distribution of the centrosomal satellites. (PMID:29789535)
• CBP80/20-dependent translation initiation factor (CTIF) inhibits HIV-1 Gag synthesis by targeting the function of the viral protein Rev. (PMID:33103564)
• Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction. (PMID:34232997)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ctif	ENSDARG00000090617
mus_musculus	Ctif	ENSMUSG00000052928
rattus_norvegicus	Ctif	ENSRNOG00000018342
drosophila_melanogaster	CG13124	FBGN0032156
caenorhabditis_elegans		WBGENE00018405

Paralogs (2): MIF4GD (ENSG00000125457), PAIP1 (ENSG00000172239)

Protein

Protein identifiers

CBP80/20-dependent translation initiation factor — O43310 (reviewed: O43310)

All UniProt accessions (5): K7EK08, K7EPK6, K7EQS5, K7EQS9, O43310

UniProt curated annotations — full annotation on UniProt →

Function. Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the pioneer round of mRNA translation mediated by the cap-binding complex playing a central role in nonsense-mediated mRNA decay (NMD).

Subunit / interactions. Interacts with NCBP1/CBP80; the interaction is direct. Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex.

Subcellular location. Cytoplasm. Perinuclear region.

Tissue specificity. Widely expressed.

Similarity. Belongs to the CTIF family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43310-1	1	yes
O43310-2	2

RefSeq proteins (2): NP_001135869, NP_055587* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003890	MIF4G-like_typ-3	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR051367	mRNA_TranslReg/HistoneTransl	Family

Pfam: PF02854

UniProt features (20 total): compositionally biased region 6, modified residue 4, region of interest 4, sequence variant 3, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43310-F1	63.13	0.34

Functional residue map

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

Post-translational modifications (4): 1, 18, 289, 299

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, USF_C, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, CAGCAGG_MIR370, MYCMAX_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, GOBP_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY, SENESE_HDAC3_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_TRANSLATION, YAGI_AML_WITH_11Q23_REARRANGED

GO Biological Process (4): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), regulation of translational initiation (GO:0006446), regulation of translation (GO:0006417), positive regulation of translation (GO:0045727)

GO Molecular Function (3): RNA binding (GO:0003723), translation activator activity (GO:0008494), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of translation	2
translation	2
cytoplasm	2
nuclear-transcribed mRNA catabolic process	1
translational initiation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
nucleic acid binding	1
translation regulator activity	1
positive regulation of translation	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTIF	NCBP1	Q09161	963
CTIF	NCBP2	P52298	928
CTIF	DCTN1	Q14203	664
CTIF	EEF1A1	P04719	662
CTIF	DYM	Q7RTS9	643
CTIF	EIF3G	O75821	632
CTIF	ENOX1	Q8TC92	587
CTIF	SKA1	Q96BD8	514
CTIF	SLBP	Q14493	483
CTIF	NCBP3	Q53F19	462
CTIF	PNRC2	Q9NPJ4	454
CTIF	UPF1	Q92900	453
CTIF	LOXHD1	Q8IVV2	447
CTIF	LRCH1	Q9Y2L9	447
CTIF	ZBTB7C	A1YPR0	444

IntAct

9 interactions, top by confidence:

A	B	Type	Score
DDX19B	MIF4GD	psi-mi:“MI:0914”(association)	0.870
DDX19A	MIF4GD	psi-mi:“MI:0914”(association)	0.860
MIF4GD	CTIF	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
	KIF3B	psi-mi:“MI:0914”(association)	0.350
CTIF		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (98): CTIF (Affinity Capture-MS), CTIF (Affinity Capture-MS), CTIF (Synthetic Lethality), CTIF (Affinity Capture-Western), CTIF (Affinity Capture-Western), CTIF (Affinity Capture-MS), CTIF (Affinity Capture-MS), CTIF (Affinity Capture-RNA), CTIF (Proximity Label-MS), CTIF (Two-hybrid), CTIF (Two-hybrid), CTIF (Two-hybrid), DDX19B (Two-hybrid), ATXN7L2 (Two-hybrid), HOOK3 (Two-hybrid)

ESM2 similar proteins: A0A0R4I9Y1, A0A0R4IBK5, A2AN08, A2ARZ3, A5WUT8, A6NKT7, B1WBT0, B8RJM0, C9JQI7, E9Q3L2, E9Q555, H2QII6, O08662, O14715, O15050, O43310, O75592, O75969, P0DJD0, P0DJD1, P13864, P42356, P49792, Q0V9S3, Q0VF22, Q24K09, Q2TL32, Q4R6W9, Q4V847, Q63HN8, Q6PB60, Q6PEE2, Q71HP2, Q7TPH6, Q7TPV2, Q7Z3J3, Q80930, Q80TA9, Q810N5, Q811D2

Diamond homologs: A3KND5, A9UHW6, B0UXU6, O43310, Q0V9S3, Q28H63, Q3UBZ5, Q3ZC21, Q5EAQ1, Q6AXU7, Q6PEE2, Q801N6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	102
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1326872	Single allele	Pathogenic

SpliceAI

3980 predictions. Top by Δscore:

Variant	Effect	Δscore
18:48619536:A:AG	acceptor_gain	1.0000
18:48619536:AGT:A	acceptor_loss	1.0000
18:48619537:G:GT	acceptor_gain	1.0000
18:48619537:GT:G	acceptor_gain	1.0000
18:48619537:GTC:G	acceptor_gain	1.0000
18:48619537:GTCCC:G	acceptor_gain	1.0000
18:48619742:CCAGG:C	donor_loss	1.0000
18:48619745:GGTG:G	donor_loss	1.0000
18:48619746:G:A	donor_loss	1.0000
18:48619746:G:GG	donor_gain	1.0000
18:48619747:T:G	donor_loss	1.0000
18:48636612:A:AG	acceptor_gain	1.0000
18:48636612:AGT:A	acceptor_gain	1.0000
18:48636613:G:GA	acceptor_gain	1.0000
18:48636613:GT:G	acceptor_gain	1.0000
18:48636613:GTG:G	acceptor_gain	1.0000
18:48663741:A:AG	acceptor_gain	1.0000
18:48663742:T:G	acceptor_gain	1.0000
18:48663747:TCCAG:T	acceptor_loss	1.0000
18:48663748:CCAGA:C	acceptor_loss	1.0000
18:48663749:CA:C	acceptor_loss	1.0000
18:48663750:A:AC	acceptor_loss	1.0000
18:48663750:A:AG	acceptor_gain	1.0000
18:48663750:AGAAT:A	acceptor_gain	1.0000
18:48663751:G:GT	acceptor_gain	1.0000
18:48663751:GA:G	acceptor_gain	1.0000
18:48663751:GAAT:G	acceptor_gain	1.0000
18:48663751:GAATG:G	acceptor_gain	1.0000
18:48663822:TCAGG:T	donor_loss	1.0000
18:48663823:CAGGT:C	donor_loss	1.0000

AlphaMissense

3972 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:48619636:T:C	L24P	1.000
18:48619644:T:C	F27L	1.000
18:48619645:T:C	F27S	1.000
18:48619646:C:A	F27L	1.000
18:48619646:C:G	F27L	1.000
18:48619648:T:A	I28N	1.000
18:48761610:C:A	A431D	1.000
18:48761661:T:C	F448S	1.000
18:48761676:T:C	L453P	1.000
18:48761685:T:C	L456P	1.000
18:48817345:T:C	L499P	1.000
18:48817369:T:C	L507P	1.000
18:48859345:T:C	L528P	1.000
18:48859356:G:C	G532R	1.000
18:48859357:G:A	G532D	1.000
18:48859366:T:C	L535P	1.000
18:48859462:T:C	L567P	1.000
18:48859494:T:A	W578R	1.000
18:48859494:T:C	W578R	1.000
18:48859496:G:C	W578C	1.000
18:48859496:G:T	W578C	1.000
18:48619636:T:A	L24Q	0.999
18:48619639:A:T	E25V	0.999
18:48619640:G:C	E25D	0.999
18:48619640:G:T	E25D	0.999
18:48619642:G:C	R26P	0.999
18:48619645:T:G	F27C	0.999
18:48619648:T:G	I28S	0.999
18:48619651:A:T	D29V	0.999
18:48619663:T:C	L33P	0.999

dbSNP variants (sampled 300 via entrez): RS1000008005 (18:48598664 G>T), RS1000014004 (18:48755880 A>G), RS1000031 (18:48835070 G>A), RS1000041451 (18:48538193 T>G), RS1000045620 (18:48830388 T>C), RS1000053018 (18:48611390 G>GC), RS1000068107 (18:48651924 C>T), RS1000075344 (18:48688939 T>A), RS1000077125 (18:48796129 G>T), RS1000087224 (18:48755607 G>A,C,T), RS1000088323 (18:48651659 A>G), RS1000092500 (18:48576005 G>A,T), RS1000095033 (18:48836083 G>A), RS1000101775 (18:48759063 G>C,T), RS1000113151 (18:48559145 A>G)

Disease associations

OMIM: gene MIM:613178 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST001692_11	Response to taxane treatment (docetaxel)	4.000000e-06
GCST003440_1	Response to carboplatin in ovarian cancer (MTT IC50)	9.000000e-06
GCST004601_180	Red blood cell count	2.000000e-10
GCST005455_7	Mean diameter of HDL particles	7.000000e-09
GCST005497_4	Large HDL particle concentration	9.000000e-09
GCST005499_11	Phospholipid levels in large HDL	1.000000e-08
GCST007015_7	Lumbar spine bone mineral density (integral)	2.000000e-06
GCST007329_32	Automobile speeding propensity	4.000000e-08
GCST007742_22	Iris heterochromicity	9.000000e-06
GCST007843_27	Rheumatoid arthritis	7.000000e-09
GCST008839_255	Height	2.000000e-08
GCST010121_13	Ceramide levels (C24:0)	3.000000e-06
GCST010122_6	Ceramide levels (C22:0)	9.000000e-06
GCST90002383_87	Hematocrit	3.000000e-19
GCST90002383_88	Hematocrit	5.000000e-11
GCST90002384_435	Hemoglobin	2.000000e-19
GCST90002384_436	Hemoglobin	2.000000e-13
GCST90002385_289	High light scatter reticulocyte count	6.000000e-10
GCST90002386_87	High light scatter reticulocyte percentage of red cells	3.000000e-11
GCST90002387_213	Immature fraction of reticulocytes	3.000000e-10
GCST90002403_334	Red blood cell count	2.000000e-15
GCST90002403_335	Red blood cell count	5.000000e-11
GCST90002407_163	White blood cell count	4.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0006952	cytotoxicity measurement
EFO:0004305	erythrocyte count
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007620	volumetric bone mineral density
EFO:0008579	risk-taking behaviour
EFO:0009764	eye colour measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0007986	reticulocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	4
Aflatoxin B1	decreases expression, increases methylation	3
sodium arsenite	decreases expression, increases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Estradiol	affects cotreatment, increases expression, affects expression	2
aristolochic acid I	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression, increases expression	1
benzo(e)pyrene	decreases methylation, increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
tamibarotene	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Methapyrilene	decreases methylation, increases methylation	1
Nickel	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SK08	HAP1 CTIF (-) 1	Cancer cell line	Male
CVCL_SK09	HAP1 CTIF (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders