UBR7

Summary

UBR7 (ubiquitin protein ligase E3 component n-recognin 7, HGNC:20344) is a protein-coding gene on chromosome 14q32.12, encoding Putative E3 ubiquitin-protein ligase UBR7 (Q8N806). E3 ubiquitin-protein ligase which is a component of the N-end rule pathway.

This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome.

Source: NCBI Gene 55148 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Li-Campeau syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 66 total — 5 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 27
• Druggable target: yes
• MANE Select transcript: NM_175748

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20344
Approved symbol	UBR7
Name	ubiquitin protein ligase E3 component n-recognin 7
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000012963
Ensembl biotype	protein_coding
OMIM	613816
Entrez	55148

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 nonsense_mediated_decay

ENST00000013070, ENST00000553674, ENST00000553857, ENST00000554232, ENST00000555113, ENST00000555329, ENST00000556871, ENST00000881533, ENST00000881534, ENST00000940497, ENST00000940498, ENST00000940499, ENST00000966805

RefSeq mRNA: 1 — MANE Select: NM_175748 NM_175748

CCDS: CCDS9909

Canonical transcript exons

ENST00000013070 — 11 exons

Exon	Start	End
ENSE00002524026	93226943	93229215
ENSE00003462133	93219212	93219361
ENSE00003474004	93215176	93215281
ENSE00003483115	93212032	93212127
ENSE00003527828	93207256	93207441
ENSE00003553141	93222313	93222374
ENSE00003570079	93220249	93220411
ENSE00003589824	93214929	93214982
ENSE00003632921	93210648	93210708
ENSE00003662563	93218527	93218735
ENSE00003663714	93209824	93209957

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 94.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2702 / max 177.2784, expressed in 1812 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141169	23.4696	1812
207342	0.7949	530
207341	0.0057	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	94.61	gold quality
right testis	UBERON:0004534	94.61	gold quality
testis	UBERON:0000473	93.57	gold quality
embryo	UBERON:0000922	93.09	gold quality
ganglionic eminence	UBERON:0004023	93.09	gold quality
ventricular zone	UBERON:0003053	92.73	gold quality
calcaneal tendon	UBERON:0003701	90.49	gold quality
cortical plate	UBERON:0005343	90.09	gold quality
prefrontal cortex	UBERON:0000451	89.23	gold quality
corpus callosum	UBERON:0002336	88.99	gold quality
islet of Langerhans	UBERON:0000006	88.98	gold quality
nucleus accumbens	UBERON:0001882	88.10	gold quality
lymph node	UBERON:0000029	88.06	gold quality
caudate nucleus	UBERON:0001873	87.95	gold quality
putamen	UBERON:0001874	87.93	gold quality
endometrium	UBERON:0001295	87.88	gold quality
frontal cortex	UBERON:0001870	87.88	gold quality
rectum	UBERON:0001052	87.79	gold quality
superior frontal gyrus	UBERON:0002661	87.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.44	gold quality
cerebral cortex	UBERON:0000956	87.28	gold quality
pancreas	UBERON:0001264	87.28	gold quality
smooth muscle tissue	UBERON:0001135	87.21	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.21	gold quality
primary visual cortex	UBERON:0002436	87.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.03	gold quality
skeletal muscle tissue	UBERON:0001134	86.94	gold quality
temporal lobe	UBERON:0001871	86.86	gold quality
amygdala	UBERON:0001876	86.85	gold quality
body of pancreas	UBERON:0001150	86.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

131 targeting UBR7, 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-12118	100.00	65.88	1270
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-4668-5P	99.79	70.58	3782

Literature-anchored findings (GeneRIF, showing 6)

• These data provide the first evidence of ubiquitin ligase activity in mammalian spermatozoa and indicate UBR7 involvement in spermiogenesis. (PMID:24664117)
• Results established UBR7 as a histone H2B monoubiquitin ligase that suppresses tumorigenesis and metastasis of triple-negative breast cancer. (PMID:30923315)
• UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. (PMID:33340455)
• NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia. (PMID:33571115)
• UBR7 acts as a histone chaperone for post-nucleosomal histone H3. (PMID:34786730)
• UBR7 in concert with EZH2 inhibits the TGF-beta signaling leading to extracellular matrix remodeling. (PMID:38923455)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubr7	ENSDARG00000005536
danio_rerio		ENSDARG00000099534
mus_musculus	Ubr7	ENSMUSG00000041712
rattus_norvegicus	Ubr7	ENSRNOG00000008108
drosophila_melanogaster	CG15141	FBGN0032635
caenorhabditis_elegans	T22C1.1	WBGENE00011912

Protein

Protein identifiers

Putative E3 ubiquitin-protein ligase UBR7 — Q8N806 (reviewed: Q8N806)

Alternative names: N-recognin-7, RING-type E3 ubiquitin transferase UBR7

All UniProt accessions (7): Q8N806, G3V253, G3V2G3, G3V336, H0YJA0, H0YJM2, H0YJY4

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.

Tissue specificity. Expressed in sperm (at protein level).

Disease relevance. Li-Campeau syndrome (LICAS) [MIM:619189] An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_786924* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003126	Znf_UBR	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR040204	UBR7	Family
IPR047506	UBR7-like_UBR-box	Domain

Pfam: PF02207

UniProt features (16 total): sequence conflict 4, cross-link 4, zinc finger region 2, sequence variant 2, modified residue 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N806-F1	76.00	0.45

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 (6): 264, 354, 225, 252, 274, 398

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 279 (showing top): E2F_Q4, MODULE_97, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, E2F4DP1_01, GCM_GSPT1, FISCHER_G1_S_CELL_CYCLE, TTTGTAG_MIR520D, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_182, WONG_PROTEASOME_GENE_MODULE, MODULE_308, GTGCCTT_MIR506, CATRRAGC_UNKNOWN, E2F1DP1_01, E2F1DP2_01

GO Biological Process (3): protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), biological_process (GO:0008150)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), molecular_function (GO:0003674), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
catalytic activity	1
cation binding	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBR7	UBR3	Q6ZT12	709
UBR7	UBR1	Q8IWV7	661
UBR7	UBR2	Q8IWV8	645
UBR7	UBR5	O95071	644
UBR7	NASP	P49321	595
UBR7	UBR4	Q5T4S7	584
UBR7	RNF181	Q9P0P0	575
UBR7	FBXO11	Q86XK2	529
UBR7	CRBN	Q96SW2	478
UBR7	CHAF1B	Q13112	476
UBR7	GAS2L3	Q86XJ1	455
UBR7	UNC79	Q9P2D8	444
UBR7	CASP8AP2	Q9UKL3	427
UBR7	SLBP	Q14493	426
UBR7	WDR76	Q9H967	425

IntAct

27 interactions, top by confidence:

A	B	Type	Score
H3C1	HAT1	psi-mi:“MI:0914”(association)	0.770
SLX1A	BACH1	psi-mi:“MI:0914”(association)	0.530
MRGBP	KPNA4	psi-mi:“MI:0914”(association)	0.530
SPIN2B	WDHD1	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
UBR7	GNG10	psi-mi:“MI:0915”(physical association)	0.400
PDK3	ECD	psi-mi:“MI:0914”(association)	0.350
ACKR3	MRPL4	psi-mi:“MI:0914”(association)	0.350
Dda1	AKR7A2	psi-mi:“MI:0914”(association)	0.350
LDHD	METTL8	psi-mi:“MI:0914”(association)	0.350
H3C1	IPO5	psi-mi:“MI:0914”(association)	0.350
DAG1	AGRN	psi-mi:“MI:0914”(association)	0.350
H3C1	MACROH2A1	psi-mi:“MI:0914”(association)	0.350
RPAIN	RPA1	psi-mi:“MI:0914”(association)	0.350
GOLGA4	TKT	psi-mi:“MI:0914”(association)	0.350
CELA3B	BCAT2	psi-mi:“MI:0914”(association)	0.350
H3-3A	MACROH2A1	psi-mi:“MI:0914”(association)	0.350
UBR7	UBE2W	psi-mi:“MI:0914”(association)	0.350
CPNE7	UTRN	psi-mi:“MI:0914”(association)	0.350
LECT2	APOD	psi-mi:“MI:0914”(association)	0.350
SEM1	PSMD9	psi-mi:“MI:0914”(association)	0.350
UBR7	UBQLN4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (135): UBR7 (Two-hybrid), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), PDIA6 (Co-fractionation), UBR7 (Proximity Label-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS), UBR7 (Affinity Capture-MS)

ESM2 similar proteins: A1L243, A2AQ19, A4IGY3, E1C760, O08837, O14730, O43290, O43395, O60870, P23025, P27088, P27089, P51948, P51949, P51951, P92948, Q13435, Q1RMM1, Q1RMT7, Q2IBC3, Q2KIA6, Q2KJC1, Q2YD98, Q3TIV5, Q3U155, Q3UJB0, Q5BK07, Q5H7N8, Q5R5F1, Q5RAD5, Q5XIW8, Q5ZIH9, Q5ZJ85, Q64267, Q69ZX6, Q6A068, Q6PII3, Q6U6G5, Q7SYJ9, Q803J8

Diamond homologs: E6ZGB4, O75151, P0CF52, P0CH95, Q09329, Q12830, Q3UWM4, Q5RHD1, Q6P949, Q6ZMT4, Q80TJ7, Q8BU04, Q8N806, Q9UPP1, Q9W0T1, Q9WTU0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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
HDR through Homologous Recombination (HRR)	5	34.0×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
DNA repair	7	12.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	3
Uncertain significance	35
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1294425	NM_175748.4(UBR7):c.35_54dup (p.Ser19fs)	Pathogenic
997415	NM_175748.4(UBR7):c.37G>T (p.Glu13Ter)	Pathogenic
997416	NM_175748.4(UBR7):c.564_565dup (p.Cys189fs)	Pathogenic
997417	NM_175748.4(UBR7):c.496-2A>G	Pathogenic
997420	NM_175748.4(UBR7):c.1186-1G>C	Pathogenic
1339353	NM_175748.4(UBR7):c.166C>T (p.Gln56Ter)	Likely pathogenic
3066044	NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)	Likely pathogenic
3066045	NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)	Likely pathogenic

SpliceAI

1421 predictions. Top by Δscore:

Variant	Effect	Δscore
14:93207423:G:GT	donor_gain	1.0000
14:93207439:CAGGT:C	donor_loss	1.0000
14:93207443:T:G	donor_loss	1.0000
14:93210642:TTTCA:T	acceptor_loss	1.0000
14:93210643:TTCA:T	acceptor_loss	1.0000
14:93210643:TTCAG:T	acceptor_loss	1.0000
14:93210644:TCA:T	acceptor_loss	1.0000
14:93210645:CAG:C	acceptor_loss	1.0000
14:93210645:CAGA:C	acceptor_loss	1.0000
14:93210646:A:AG	acceptor_gain	1.0000
14:93210646:A:T	acceptor_loss	1.0000
14:93210647:G:GA	acceptor_gain	1.0000
14:93210647:G:GG	acceptor_gain	1.0000
14:93210647:G:GT	acceptor_loss	1.0000
14:93210647:GA:G	acceptor_gain	1.0000
14:93210647:GAA:G	acceptor_gain	1.0000
14:93210647:GAAAT:G	acceptor_gain	1.0000
14:93210706:CCTG:C	donor_loss	1.0000
14:93210707:CTGTA:C	donor_loss	1.0000
14:93210708:TG:T	donor_loss	1.0000
14:93210709:G:A	donor_loss	1.0000
14:93210709:G:C	donor_loss	1.0000
14:93210709:G:GG	donor_gain	1.0000
14:93210711:A:AG	donor_loss	1.0000
14:93210712:AGT:A	donor_loss	1.0000
14:93210713:G:GG	donor_gain	1.0000
14:93212026:TTTCA:T	acceptor_loss	1.0000
14:93212027:TTCA:T	acceptor_loss	1.0000
14:93212029:CA:C	acceptor_loss	1.0000
14:93212030:A:AG	acceptor_gain	1.0000

AlphaMissense

2844 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:93207427:T:C	C46R	1.000
14:93209896:T:A	C75S	1.000
14:93209896:T:C	C75R	1.000
14:93209897:G:A	C75Y	1.000
14:93209897:G:C	C75S	1.000
14:93209898:T:G	C75W	1.000
14:93209905:T:C	C78R	1.000
14:93209906:G:A	C78Y	1.000
14:93209907:C:G	C78W	1.000
14:93210658:T:C	C99R	1.000
14:93214950:T:C	C155R	1.000
14:93214968:T:A	W161R	1.000
14:93214968:T:C	W161R	1.000
14:93220403:T:C	L372P	1.000
14:93222337:T:C	L383P	1.000
14:93222349:T:C	L387P	1.000
14:93226947:T:A	V397D	1.000
14:93207401:T:A	V37D	0.999
14:93207427:T:A	C46S	0.999
14:93207428:G:C	C46S	0.999
14:93207429:C:G	C46W	0.999
14:93209837:G:C	R55T	0.999
14:93209838:A:C	R55S	0.999
14:93209838:A:T	R55S	0.999
14:93209851:G:C	A60P	0.999
14:93209852:C:A	A60D	0.999
14:93209854:T:A	C61S	0.999
14:93209854:T:C	C61R	0.999
14:93209855:G:A	C61Y	0.999
14:93209855:G:C	C61S	0.999

dbSNP variants (sampled 300 via entrez): RS1000058553 (14:93208895 T>G), RS1000623525 (14:93208162 C>G), RS1000696486 (14:93209650 C>T), RS1000879795 (14:93221637 A>T), RS1001108320 (14:93214426 C>G,T), RS1001432505 (14:93228576 C>G,T), RS1001580574 (14:93223459 A>C,T), RS1001766635 (14:93208799 CT>C,CTT), RS1001790590 (14:93209143 T>C), RS1001883359 (14:93224205 T>G), RS1001916038 (14:93224479 T>C), RS1002090209 (14:93207527 G>T), RS1002242413 (14:93210869 A>G), RS1002258199 (14:93214357 G>A), RS1002336412 (14:93221254 G>T)

Disease associations

OMIM: gene MIM:613816 | disease phenotypes: MIM:619189

GenCC curated gene-disease

Disease	Classification	Inheritance
Li-Campeau syndrome	Strong	Autosomal recessive
intellectual disability	Limited	Autosomal recessive

Mondo (3): Li-Campeau syndrome (MONDO:0030963), long QT syndrome (MONDO:0002442), intellectual disability (MONDO:0001071)

Orphanet (0):

HPO phenotypes

27 total (27 of 27 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000574	Thick eyebrow
HP:0000821	Hypothyroidism
HP:0000954	Single transverse palmar crease
HP:0000998	Hypertrichosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001643	Patent ductus arteriosus
HP:0001655	Patent foramen ovale
HP:0002579	Gastrointestinal dysmotility
HP:0003065	Patellar hypoplasia
HP:0003577	Congenital onset
HP:0004322	Short stature
HP:0011220	Prominent forehead
HP:0033258	Sudden unexpected death in epilepsy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_7	Body mass index	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725042 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases reaction, increases expression, affects cotreatment, decreases expression, affects binding	4
Valproic Acid	affects expression, increases expression	2
TAK-243	increases sumoylation	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects expression, increases abundance, affects cotreatment	1
lead acetate	affects cotreatment, decreases expression	1
kojic acid	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
monomethylarsonous acid	decreases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
NSC 689534	affects binding, decreases 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
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	increases expression	1
Copper	decreases expression, affects binding	1
Coumestrol	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697419	Binding	Inhibition of UBR7 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C1WU	SIPDi001-A	Induced pluripotent stem cell	Male
CVCL_E2N5	HAP1 UBR7 (-) 1	Cancer cell line	Male
CVCL_E2N6	HAP1 UBR7 (-) 2	Cancer cell line	Male
CVCL_E2N7	HAP1 UBR7 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

263 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
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
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
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
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)
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
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