DCAF15

Summary

DCAF15 (DDB1 and CUL4 associated factor 15, HGNC:25095) is a protein-coding gene on chromosome 19p13.12, encoding DDB1- and CUL4-associated factor 15 (Q66K64). Substrate-recognition component of the DCX(DCAF15) complex, a cullin-4-RING E3 ubiquitin-protein ligase complex that mediates ubiquitination and degradation of target proteins. It is a selective cancer dependency (DepMap: 11.2% of cell lines).

Enables small molecule binding activity. Involved in protein polyubiquitination and regulation of natural killer cell activation. Part of Cul4-RING E3 ubiquitin ligase complex.

Source: NCBI Gene 90379 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Cornelia de Lange syndrome (Moderate, GenCC)
• Clinical variants (ClinVar): 90 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 11.2% of screened cell lines
• MANE Select transcript: NM_138353

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25095
Approved symbol	DCAF15
Name	DDB1 and CUL4 associated factor 15
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC99481
Ensembl gene	ENSG00000132017
Ensembl biotype	protein_coding
OMIM	620109
Entrez	90379

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000254337, ENST00000585468, ENST00000587307, ENST00000588523, ENST00000591385, ENST00000591802, ENST00000892332, ENST00000892333, ENST00000892334, ENST00000936700, ENST00000936701, ENST00000936702, ENST00000936703, ENST00000936704, ENST00000936705, ENST00000936706

RefSeq mRNA: 9 — MANE Select: NM_138353 NM_001393637, NM_001393638, NM_001393639, NM_001393640, NM_001393641, NM_001393642, NM_001393643, NM_001393644, NM_138353

CCDS: CCDS32926

Canonical transcript exons

ENST00000254337 — 13 exons

Exon	Start	End
ENSE00000902119	13955912	13956018
ENSE00000902120	13956123	13956262
ENSE00000902121	13956352	13956522
ENSE00000902122	13959045	13959479
ENSE00000902123	13959582	13959673
ENSE00000902129	13960287	13960391
ENSE00000902131	13960465	13960580
ENSE00000951061	13954526	13954661
ENSE00000951062	13960940	13961449
ENSE00002880040	13952509	13952644
ENSE00003477787	13954340	13954437
ENSE00003617291	13959767	13959895
ENSE00003676206	13959984	13960069

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 96.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9954 / max 115.0156, expressed in 1787 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174201	10.9240	1769
174200	3.0340	1363
174202	0.0374	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.47	gold quality
lower esophagus mucosa	UBERON:0035834	95.57	gold quality
left testis	UBERON:0004533	95.37	gold quality
right testis	UBERON:0004534	95.29	gold quality
testis	UBERON:0000473	94.92	gold quality
spleen	UBERON:0002106	94.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.25	gold quality
apex of heart	UBERON:0002098	94.03	gold quality
cerebellar hemisphere	UBERON:0002245	93.86	gold quality
blood	UBERON:0000178	93.81	gold quality
cerebellum	UBERON:0002037	93.80	gold quality
cerebellar cortex	UBERON:0002129	93.80	gold quality
skin of leg	UBERON:0001511	93.52	gold quality
skin of abdomen	UBERON:0001416	93.49	gold quality
zone of skin	UBERON:0000014	93.43	gold quality
right uterine tube	UBERON:0001302	93.27	gold quality
mucosa of transverse colon	UBERON:0004991	93.18	gold quality
lymph node	UBERON:0000029	92.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.13	gold quality
esophagus mucosa	UBERON:0002469	91.90	gold quality
vagina	UBERON:0000996	91.66	gold quality
metanephros cortex	UBERON:0010533	91.39	gold quality
transverse colon	UBERON:0001157	91.24	gold quality
small intestine	UBERON:0002108	91.03	gold quality
vermiform appendix	UBERON:0001154	90.97	gold quality
pituitary gland	UBERON:0000007	90.78	gold quality
embryo	UBERON:0000922	90.56	gold quality
ganglionic eminence	UBERON:0004023	90.56	gold quality
body of uterus	UBERON:0009853	90.44	gold quality
ectocervix	UBERON:0012249	90.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting DCAF15, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371A-3P	99.99	66.77	91
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-6721-5P	99.93	68.92	2981
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-4703-3P	96.68	68.61	545

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• DCAF15 expression may be a useful biomarker to guide clinical trials of splicing inhibitor sulfonamides(SPLAMs). (PMID:28302793)
• aryl-sulfonamides neo-functionalize a shallow, non-conserved pocket on DCAF15 to selectively bind and degrade RBM39 and the closely related splicing factor RBM23 without the requirement for a high-affinity ligand (PMID:31686031)
• structural and mutational analysis of how indisulam mediates the DCAF15-RBM39 interaction (PMID:31819272)
• Targeting the E3 ubiquitin ligases DCAF15 and cereblon for cancer therapy. (PMID:32200025)
• In vivo target protein degradation induced by PROTACs based on E3 ligase DCAF15. (PMID:32713946)
• Tumor suppressor DCAF15 inhibits epithelial-mesenchymal transition by targeting ZEB1 for proteasomal degradation in hepatocellular carcinoma. (PMID:33833131)
• DCAF15 control of cohesin dynamics sustains acute myeloid leukemia. (PMID:38961054)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcaf15	ENSDARG00000077790
mus_musculus	Dcaf15	ENSMUSG00000037103
rattus_norvegicus	Dcaf15	ENSRNOG00000006551
drosophila_melanogaster	CG6325	FBGN0037814

Protein

Protein identifiers

DDB1- and CUL4-associated factor 15 — Q66K64 (reviewed: Q66K64)

All UniProt accessions (4): Q66K64, K7ELE9, K7ENG0, K7ERN0

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of the DCX(DCAF15) complex, a cullin-4-RING E3 ubiquitin-protein ligase complex that mediates ubiquitination and degradation of target proteins. The DCX(DCAF15) complex acts as a regulator of the natural killer (NK) cells effector functions, possibly by mediating ubiquitination and degradation of cohesin subunits SMC1A and SMC3. May play a role in the activation of antigen-presenting cells (APC) and their interaction with NK cells. Binding of aryl sulfonamide anticancer drugs, such as indisulam (E7070) or E7820, change the substrate specificity of the DCX(DCAF15) complex, leading to promote ubiquitination and degradation of splicing factor RBM39. RBM39 degradation results in splicing defects and death in cancer cell lines. Aryl sulfonamide anticancer drugs change the substrate specificity of DCAF15 by acting as a molecular glue that promotes binding between DCAF15 and weak affinity interactor RBM39. Aryl sulfonamide anticancer drugs also promote ubiquitination and degradation of RBM23 and PRPF39.

Subunit / interactions. Component of the DCX(DCAF15) complex, also named CLR4(DCAF15) complex, composed of DCAF15, DDB1, cullin-4 (CUL4A or CUL4B), DDA1 and RBX1.

Activity regulation. Aryl sulfonamide anticancer drugs change the substrate specificity of DCAF15 by acting as a molecular glue that promotes binding between DCAF15 and weak affinity interactors, such as RBM39.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (9): NP_001380566, NP_001380567, NP_001380568, NP_001380569, NP_001380570, NP_001380571, NP_001380572, NP_001380573, NP_612362* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032734	DCAF15_WD40	Domain
IPR038914	DCAF15	Family
IPR047319	DCAF15_C	Domain

Pfam: PF14939

UniProt features (68 total): strand 27, mutagenesis site 13, turn 8, binding site 6, helix 6, modified residue 3, region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6UD7	X-RAY DIFFRACTION	2.3
6UE5	X-RAY DIFFRACTION	2.61
6PAI	X-RAY DIFFRACTION	2.9
6Q0R	X-RAY DIFFRACTION	2.9
6Q0V	X-RAY DIFFRACTION	2.9
6Q0W	X-RAY DIFFRACTION	2.9
8ROY	ELECTRON MICROSCOPY	3.1
8ROX	ELECTRON MICROSCOPY	3.3
6SJ7	ELECTRON MICROSCOPY	3.54

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q66K64-F1	78.92	0.54

Functional residue map

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

Ligand- & substrate-binding residues (6): 234–235; 193; 196; 211; 214; 231

Post-translational modifications (3): 50, 310, 314

Mutagenesis-validated functional residues (13):

Position	Phenotype
90	abolished interaction with ddb1, dda1 and rbm39 in presence of indisulam.
91	abolished interaction with ddb1, dda1 and rbm39 in presence of indisulam.
112	abolished interaction with ddb1, dda1 and rbm39 in presence of indisulam.
129	abolished interaction with ddb1, dda1 and rbm39 in presence of indisulam.
182	decreased interaction with ddb1, dda1 and rbm39 in presence of indisulam.
196	decreased interaction with ddb1, dda1 and rbm39 in presence of indisulam.
232	decreased interaction with rbm39 in presence of indisulam, without affecting interaction with dda1 and ddb1.
244	decreased interaction with ddb1, dda1 and rbm39 in presence of indisulam.
392	decreased interaction with dda1 and rbm39 in presence of indisulam.
420	decreased interaction with dda1 and rbm39 in presence of indisulam.
444	decreased interaction with dda1 and rbm39 in presence of indisulam.
453	decreased interaction with dda1 and rbm39 in presence of indisulam.
475	decreased interaction with rbm39 in presence of indisulam, without affecting interaction with dda1 and ddb1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 123 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, ACTACCT_MIR196A_MIR196B, MODULE_255, MODULE_317, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_REGULATION_OF_NATURAL_KILLER_CELL_ACTIVATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_NATURAL_KILLER_CELL_ACTIVATION, FISCHER_DREAM_TARGETS, CAGCCTC_MIR4855P, GOBP_REGULATION_OF_LYMPHOCYTE_ACTIVATION, GOCC_TRANSFERASE_COMPLEX, GOCC_CUL4_RING_E3_UBIQUITIN_LIGASE_COMPLEX, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX

GO Biological Process (4): protein polyubiquitination (GO:0000209), immune system process (GO:0002376), protein ubiquitination (GO:0016567), regulation of natural killer cell activation (GO:0032814)

GO Molecular Function (3): small molecule binding (GO:0036094), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (1): Cul4-RING E3 ubiquitin ligase complex (GO:0080008)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
protein ubiquitination	1
biological_process	1
protein modification by small protein conjugation	1
natural killer cell activation	1
regulation of lymphocyte activation	1
cation binding	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAF15	RBM39	Q14498	984
DCAF15	DDB1	Q16531	945
DCAF15	DDA1	Q9BW61	832
DCAF15	CRBN	Q96SW2	670
DCAF15	DCAF16	Q9NXF7	606
DCAF15	RBX1	P62877	587
DCAF15	RBM23	Q86U06	562
DCAF15	BRD4	O60885	551
DCAF15	RNF114	Q9Y508	545
DCAF15	DCAF8	Q5TAQ9	541
DCAF15	CUL4A	Q13619	458
DCAF15	DCAF4	Q8WV16	449
DCAF15	GSPT1	P15170	446
DCAF15	RRM2	P31350	446
DCAF15	SMC3	Q9UQE7	438

IntAct

15 interactions, top by confidence:

A	B	Type	Score
RMI1	TOP3A	psi-mi:“MI:0914”(association)	0.940
RIPPLY1	DCAF15	psi-mi:“MI:0915”(physical association)	0.560
SPINK2	STRN	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
SLC31A1	PRORP	psi-mi:“MI:0914”(association)	0.530
Ddb1	PHGDH	psi-mi:“MI:0915”(physical association)	0.400
DCAF15	ARNT	psi-mi:“MI:0914”(association)	0.350
RMI1	TOP3A	psi-mi:“MI:0914”(association)	0.350
DDB1	POLRMT	psi-mi:“MI:0914”(association)	0.350
TGM2	MAP3K7	psi-mi:“MI:0914”(association)	0.350
DCAF15	ATXN1L	psi-mi:“MI:0914”(association)	0.350
RIPPLY1	DCAF15	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (561): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), LMBRD2 (Affinity Capture-MS), DMWD (Affinity Capture-MS), BCOR (Affinity Capture-MS), ZEB1 (Affinity Capture-MS), TJP2 (Affinity Capture-MS), RUFY3 (Affinity Capture-MS), STIL (Affinity Capture-MS), DSTYK (Affinity Capture-MS), TRIM33 (Affinity Capture-MS), ZNF503 (Affinity Capture-MS), RAB3GAP1 (Affinity Capture-MS), UGP2 (Affinity Capture-MS), ARNT (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1

Diamond homologs: A2BDA5, Q3SZD5, Q66K64, Q6PFH3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
DCAF15	“down-regulates quantity by destabilization”	RBM39	polyubiquitination
indisulam	“up-regulates activity”	DCAF15	“chemical activation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1943 predictions. Top by Δscore:

Variant	Effect	Δscore
19:13952640:TCA:T	donor_gain	1.0000
19:13952640:TCAAG:T	donor_loss	1.0000
19:13952641:CAAGG:C	donor_loss	1.0000
19:13952643:AGGT:A	donor_loss	1.0000
19:13952645:GTGAG:G	donor_loss	1.0000
19:13953106:G:GT	donor_gain	1.0000
19:13954433:GCAGG:G	donor_gain	1.0000
19:13954435:AGGG:A	donor_loss	1.0000
19:13954436:GG:G	donor_gain	1.0000
19:13954436:GGGTG:G	donor_loss	1.0000
19:13954437:GG:G	donor_gain	1.0000
19:13954437:GGTG:G	donor_loss	1.0000
19:13954524:A:AG	acceptor_gain	1.0000
19:13954525:G:GG	acceptor_gain	1.0000
19:13954525:GAC:G	acceptor_gain	1.0000
19:13954525:GACAT:G	acceptor_gain	1.0000
19:13954631:G:GT	donor_gain	1.0000
19:13954658:GCTG:G	donor_gain	1.0000
19:13956019:G:GG	donor_gain	1.0000
19:13956121:A:AG	acceptor_gain	1.0000
19:13956122:G:GG	acceptor_gain	1.0000
19:13956350:A:AG	acceptor_gain	1.0000
19:13956351:G:GG	acceptor_gain	1.0000
19:13956351:GGA:G	acceptor_gain	1.0000
19:13956520:C:T	donor_gain	1.0000
19:13956520:CAGG:C	donor_loss	1.0000
19:13956521:AGGT:A	donor_loss	1.0000
19:13956522:GGT:G	donor_loss	1.0000
19:13956523:GTAG:G	donor_loss	1.0000
19:13956524:T:G	donor_loss	1.0000

AlphaMissense

3919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:13954401:T:A	L65H	1.000
19:13954534:T:C	F80S	1.000
19:13954539:G:C	G82R	1.000
19:13954540:G:A	G82D	1.000
19:13954540:G:T	G82V	1.000
19:13954542:T:C	F83L	1.000
19:13954543:T:C	F83S	1.000
19:13954544:T:A	F83L	1.000
19:13954544:T:G	F83L	1.000
19:13954564:T:A	V90D	1.000
19:13954570:C:T	S92F	1.000
19:13954572:T:G	Y93D	1.000
19:13954621:T:C	L109P	1.000
19:13954626:T:A	W111R	1.000
19:13954626:T:C	W111R	1.000
19:13954629:T:A	W112R	1.000
19:13954629:T:C	W112R	1.000
19:13954631:G:C	W112C	1.000
19:13954631:G:T	W112C	1.000
19:13954635:T:C	F114L	1.000
19:13954636:T:C	F114S	1.000
19:13954637:C:A	F114L	1.000
19:13954637:C:G	F114L	1.000
19:13954654:T:A	L120H	1.000
19:13955930:T:C	F129L	1.000
19:13955931:T:C	F129S	1.000
19:13955932:C:A	F129L	1.000
19:13955932:C:G	F129L	1.000
19:13955958:T:C	L138P	1.000
19:13955964:T:C	L140P	1.000

dbSNP variants (sampled 300 via entrez): RS1000111425 (19:13954049 G>A), RS1000145724 (19:13958172 C>T), RS1000262291 (19:13958358 A>T), RS1000401859 (19:13958675 A>G), RS1001041808 (19:13954541 C>G,T), RS1001473587 (19:13953469 T>G), RS1001660093 (19:13953913 G>A), RS1001694171 (19:13958539 C>T), RS1001839602 (19:13953255 C>G,T), RS1001941041 (19:13953614 C>T), RS1002216016 (19:13952758 A>C,G,T), RS1002438417 (19:13954399 C>T), RS1003122626 (19:13951821 G>A), RS1003470911 (19:13961513 G>T), RS1003887451 (19:13952858 C>T)

Disease associations

OMIM: gene MIM:620109 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Cornelia de Lange syndrome	Moderate	Autosomal recessive

Mondo (1): Cornelia de Lange syndrome (MONDO:0016033)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (5): CHEMBL5291965 (PROTEIN-PROTEIN INTERACTION), CHEMBL5291966 (PROTEIN-PROTEIN INTERACTION), CHEMBL5465261 (SINGLE PROTEIN), CHEMBL6066149 (PROTEIN-PROTEIN INTERACTION), CHEMBL6193833 (PROTEIN-PROTEIN INTERACTION)

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

ChEMBL bioactivities

6 potent at pChembl≥5 of 11 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.51	Kd	31	nM	CHEMBL5429394
7.33	Kd	47	nM	CHEMBL5397181
7.08	Kd	83	nM	CHEMBL5431028
7.01	Kd	98	nM	CHEMBL5439774
5.82	Kd	1500	nM	CHEMBL5424590
5.25	Kd	5600	nM	CHEMBL5409735

PubChem BioAssay actives

6 with measured affinity, of 30 total; 6 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
1-[4-[4-(2-aminoethylamino)-2-[1-(4-chlorophenyl)cyclohexyl]quinazolin-7-yl]piperazin-1-yl]ethanone	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	0.0310	uM
1-[4-[4-(2-aminoethylamino)-2-[1-(4-chlorophenyl)cyclopentyl]quinazolin-7-yl]piperazin-1-yl]ethanone	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	0.0470	uM
N’-[2-[1-(4-chlorophenyl)cyclohexyl]-7-(4-methylpiperazin-1-yl)quinazolin-4-yl]ethane-1,2-diamine	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	0.0830	uM
N’-[2-[1-(4-chlorophenyl)cyclopentyl]-7-(4-methylpiperazin-1-yl)quinazolin-4-yl]ethane-1,2-diamine	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	0.0980	uM
1-[4-[4-(2-aminoethylamino)-2-[1-(4-methoxyphenyl)cyclopropyl]quinazolin-7-yl]piperazin-1-yl]ethanone	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	1.5000	uM
N’-[2-[1-(4-methoxyphenyl)cyclopropyl]-7-(4-methylpiperazin-1-yl)quinazolin-4-yl]ethane-1,2-diamine	2010114: Binding affinity to Avi-tagged DCAF1 (1073 to 1399 residues) (unknown origin) expressed in baculovirus infected in Sf9 insect cells by SPR analysis	kd	5.6000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Valproic Acid	affects expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	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
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Coumestrol	affects cotreatment, increases expression	1
Gasoline	increases expression, affects cotreatment, increases abundance	1
Lead	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

ChEMBL screening assays

13 unique, capped per target: 13 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5264464	Binding	PROTAC activity at DCAF15/BRD9 in human HeLa cells assessed as remaining BRD9 protein level at 1 uM incubated for 4 hrs by Western blot analysis relative to control	Iterative Design and Optimization of Initially Inactive Proteolysis Targeting Chimeras (PROTACs) Identify VZ185 as a Potent, Fast, and Selective von Hippel-Lindau (VHL) Based Dual Degrader Probe of BRD9 and BRD7. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04381897	PHASE2	NOT_YET_RECRUITING	Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
NCT06789783	PHASE2/PHASE3	RECRUITING	Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT03113877	Not specified	TERMINATED	Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT05829668	Not specified	RECRUITING	Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome