SP140

Summary

SP140 (SP140 nuclear body protein, HGNC:17133) is a protein-coding gene on chromosome 2q37.1, encoding Nuclear body protein SP140 (Q13342). Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body.

This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn’s disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants.

Source: NCBI Gene 11262 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 263 total — 8 pathogenic
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_007237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17133
Approved symbol	SP140
Name	SP140 nuclear body protein
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	LYSP100-B, LYSP100-A
Ensembl gene	ENSG00000079263
Ensembl biotype	protein_coding
OMIM	608602
Entrez	11262

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 19 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000343805, ENST00000373645, ENST00000392045, ENST00000417495, ENST00000420434, ENST00000441657, ENST00000456542, ENST00000473711, ENST00000476126, ENST00000479539, ENST00000486750, ENST00000538494, ENST00000543928, ENST00000544128, ENST00000881924, ENST00000881925, ENST00000881926, ENST00000881927, ENST00000881928, ENST00000881929, ENST00000881930, ENST00000881931, ENST00000881932, ENST00000881933, ENST00000881934, ENST00000881935, ENST00000949292

RefSeq mRNA: 5 — MANE Select: NM_007237 NM_001005176, NM_001278451, NM_001278452, NM_001278453, NM_007237

CCDS: CCDS33392, CCDS42831, CCDS63149, CCDS63150, CCDS63151

Canonical transcript exons

ENST00000392045 — 27 exons

Exon	Start	End
ENSE00000922448	230253316	230253417
ENSE00000922450	230248885	230248968
ENSE00000922452	230247916	230248065
ENSE00000922454	230245863	230245940
ENSE00000922456	230244988	230245080
ENSE00000922457	230243731	230243811
ENSE00000922459	230241404	230241487
ENSE00001174810	230312586	230313215
ENSE00001943121	230225736	230225903
ENSE00002320292	230269532	230269618
ENSE00002436157	230294271	230294318
ENSE00002449255	230290460	230290564
ENSE00002454437	230287892	230287966
ENSE00002456844	230255452	230255532
ENSE00002474361	230311452	230311595
ENSE00002475072	230309924	230310039
ENSE00002477850	230269837	230269953
ENSE00002516947	230311154	230311231
ENSE00002522318	230292646	230292788
ENSE00002536323	230250981	230251061
ENSE00003474622	230285752	230285832
ENSE00003495765	230238213	230238381
ENSE00003542335	230310743	230310851
ENSE00003544082	230270586	230270639
ENSE00003584206	230284346	230284411
ENSE00003598486	230297421	230297462
ENSE00003655149	230237083	230237260

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 92.31.

FANTOM5 (CAGE): breadth broad, TPM avg 10.0967 / max 380.0719, expressed in 400 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25810	5.3743	363
25811	4.6812	306
25812	0.0247	5
25809	0.0060	4
202597	0.0054	2
25808	0.0050	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	92.31	gold quality
granulocyte	CL:0000094	91.77	gold quality
spleen	UBERON:0002106	91.33	gold quality
vermiform appendix	UBERON:0001154	90.03	gold quality
blood	UBERON:0000178	88.39	gold quality
leukocyte	CL:0000738	86.45	gold quality
monocyte	CL:0000576	86.12	gold quality
mononuclear cell	CL:0000842	85.92	gold quality
tonsil	UBERON:0002372	84.75	gold quality
bone marrow cell	CL:0002092	84.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.86	gold quality
caecum	UBERON:0001153	83.74	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.83	gold quality
epithelium of nasopharynx	UBERON:0001951	80.68	gold quality
colonic epithelium	UBERON:0000397	79.30	gold quality
bone marrow	UBERON:0002371	77.94	gold quality
small intestine	UBERON:0002108	77.24	gold quality
rectum	UBERON:0001052	77.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.60	gold quality
gall bladder	UBERON:0002110	76.51	gold quality
upper lobe of left lung	UBERON:0008952	76.40	gold quality
sural nerve	UBERON:0015488	75.63	gold quality
upper lobe of lung	UBERON:0008948	75.12	gold quality
superficial temporal artery	UBERON:0001614	74.32	gold quality
right lung	UBERON:0002167	74.12	gold quality
mucosa of transverse colon	UBERON:0004991	74.07	gold quality
omental fat pad	UBERON:0010414	72.55	gold quality
peritoneum	UBERON:0002358	72.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.00	gold quality
adipose tissue of abdominal region	UBERON:0007808	71.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.35
E-CURD-112	yes	14.58

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
IFNG

miRNA regulators (miRDB)

24 targeting SP140, 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-188-3P	100.00	68.76	1240
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-12126	98.09	64.82	637
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-6861-5P	96.23	67.19	800
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-3170	95.84	64.32	721

Literature-anchored findings (GeneRIF, showing 9)

• the nuclear body protein Sp140, was found specifically in all NP cells (n = 12 cell lines tested; P < or = 0.001), and HIV-1 infection induced its partial dispersal from nuclear bodies into cytosolic colocalization with Vif (PMID:12368356)
• Data identified rs28445040 variant in SP140 gene as the causal factor for skipping of exon 7 and the most associated with multiple sclerosis. (PMID:26152201)
• IL1R2 hypomethylation and androgen receptor hypermethylation may constitute an important determinant of disease severity, whereas NPR2 hypomethylation and SP140 hypermethylation may provide a biomarker for vulnerability to excessive daytime sleepiness in Obstructive Sleep Apnea (PMID:26888452)
• Our findings showed that SP140 is an important repressor of genes implicated in inflammation, suggesting that decreased expression of SP140, promoted by the rs28445040-T risk variant, may lead to up-regulation of these genes by means of NF-kappaB inhibition in B cells. (PMID:30102396)
• The Sp140 is multi-SUMOylated and its PHD finger works as versatile protein-protein interaction platform promoting intramolecular SUMOylation of the adjacent BRD. (PMID:30465816)
• Epigenetic reader SP140 loss of function drives Crohn’s disease due to uncontrolled macrophage topoisomerases. (PMID:35952671)
• Immune chromatin reader SP140 regulates microbiota and risk for inflammatory bowel disease. (PMID:36130593)
• SP140 inhibits STAT1 signaling, induces IFN-gamma in tumor-associated macrophages, and is a predictive biomarker of immunotherapy response. (PMID:36600652)
• Transcriptional regulators SP110 and SP140 modulate inflammatory response genes in Mycobacterium tuberculosis-infected human macrophages. (PMID:39162523)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sp100	ENSMUSG00000026222
rattus_norvegicus	Sp100	ENSRNOG00000022769
caenorhabditis_elegans	hmg-3	WBGENE00001973
caenorhabditis_elegans		WBGENE00001974

Paralogs (20): HMGB3 (ENSG00000029993), HMG20B (ENSG00000064961), SP100 (ENSG00000067066), SMARCE1 (ENSG00000073584), TOX4 (ENSG00000092203), HMGXB4 (ENSG00000100281), TOX3 (ENSG00000103460), TFAM (ENSG00000108064), UBTF (ENSG00000108312), HMGB1P1 (ENSG00000124097), TOX2 (ENSG00000124191), SP110 (ENSG00000135899), HMG20A (ENSG00000140382), SSRP1 (ENSG00000149136), HMGB2 (ENSG00000164104), HMGB4 (ENSG00000176256), SP140L (ENSG00000185404), HMGB1 (ENSG00000189403), TOX (ENSG00000198846), UBTFL1 (ENSG00000255009)

Protein

Protein identifiers

Nuclear body protein SP140 — Q13342 (reviewed: Q13342)

Alternative names: Lymphoid-restricted homolog of Sp100, Nuclear autoantigen Sp-140, Speckled 140 kDa

All UniProt accessions (2): Q13342, U3KPV9

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails.

Subunit / interactions. Interacts with PIN1.

Subcellular location. Nucleus. PML body. Cytoplasm.

Tissue specificity. High levels in spleen and peripheral blood leukocytes, much lower levels in tonsils, thymus, prostate, ovary, small intestine, and colon. Very low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. Not detected in brain, liver and muscle.

Post-translational modifications. Phosphorylation at Thr-726 promotes binding of PIN1 and subsequent isomerization of Pro-727.

Induction. By gamma-interferon.

Miscellaneous. This antigen is recognized by autoantibodies from patients with primary biliary cirrhosis.

Isoforms (6)

UniProt ID	Names	Canonical?
Q13342-1	LYSp100-B	yes
Q13342-2	LYSp100-A
Q13342-3	Sp140
Q13342-4	4
Q13342-5	5
Q13342-6	6

RefSeq proteins (5): NP_001005176, NP_001265380, NP_001265381, NP_001265382, NP_009168* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000770	SAND_dom	Domain
IPR001487	Bromodomain	Domain
IPR001965	Znf_PHD	Domain
IPR004865	HSR_dom	Domain
IPR010919	SAND-like_dom_sf	Homologous_superfamily
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR030411	Sp140_Bromo	Domain
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR043563	Sp110/Sp140/Sp140L-like	Family

Pfam: PF00439, PF00628, PF01342, PF03172

UniProt features (60 total): helix 13, splice variant 10, strand 9, compositionally biased region 6, sequence conflict 5, sequence variant 4, domain 3, turn 3, region of interest 3, chain 1, modified residue 1, zinc finger region 1, short sequence motif 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
8J70	X-RAY DIFFRACTION	1.85
8J71	X-RAY DIFFRACTION	1.85
6G8R	X-RAY DIFFRACTION	2.74
2MD7	SOLUTION NMR
2MD8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13342-F1	58.02	0.20

Antibody-complex structures (SAbDab): 1 — 6G8R

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 (1): 726

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 154 (showing top): MODULE_120, KOYAMA_SEMA3B_TARGETS_UP, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GARY_CD5_TARGETS_DN, MODULE_175, MORF_PRKACA, GOCC_NUCLEAR_BODY, GOCC_PML_BODY, GOCC_NUCLEOLUS, MODULE_7, MODULE_292, MORF_TFDP2, MODULE_41, ICSBP_Q6, CTIP_DN.V1_UP

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), defense response (GO:0006952)

GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): fibrillar center (GO:0001650), nucleus (GO:0005634), mitochondrion (GO:0005739), PML body (GO:0016605), nucleolus (GO:0005730), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
response to stress	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
nucleolus	1
cytoplasm	1
nuclear body	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SP140	PPIE	Q9UNP9	638
SP140	TENT5C	Q5VWP2	583
SP140	PML	P29590	547
SP140	DIS3	Q9Y2L1	540
SP140	BRD1	O95696	535
SP140	CBX5	P45973	527
SP140	BRDT	Q58F21	513
SP140	TP53	P04637	511
SP140	SUMO1	P55856	498
SP140	UBTFL1	P0CB47	492
SP140	ISG20	Q96AZ6	491
SP140	SERBP1	Q8NC51	471
SP140	NUP210	Q8TEM1	446
SP140	CREBBP	Q92793	431
SP140	IRF2	P14316	425

IntAct

15 interactions, top by confidence:

A	B	Type	Score
PIN1	SP140	psi-mi:“MI:1237”(proline isomerization reaction)	0.610
PIN1	SP140	psi-mi:“MI:0407”(direct interaction)	0.610
PIN1	SP140	psi-mi:“MI:0915”(physical association)	0.610
NFE2L2	SP140	psi-mi:“MI:0915”(physical association)	0.580
ZMYND11	SP140	psi-mi:“MI:0407”(direct interaction)	0.440
SP140	ERP29	psi-mi:“MI:0915”(physical association)	0.400
SP140	H1-2	psi-mi:“MI:0915”(physical association)	0.400
SP140	H1-5	psi-mi:“MI:0915”(physical association)	0.400
SP140	pnp	psi-mi:“MI:0915”(physical association)	0.000
SP140	ilvI	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): SP140 (Proximity Label-MS), SP140 (Proximity Label-MS), SP140 (Proximity Label-MS), HNRNPM (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), TF (Affinity Capture-MS), SP140 (Two-hybrid), SP140 (Affinity Capture-Western), SP140 (FRET), Sertad1 (Two-hybrid)

ESM2 similar proteins: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A8MXT2, B2KFW1, O15479, O15480, O15481, O15553, P0C6Y7, P10073, P17040, P25233, P43355, P43356, P43357, P43358, P43360, P43362, P43363, P43364, P43366, Q13342, Q16666, Q4R998, Q5PPP4, Q5RD14, Q6AY37, Q6PCZ4, Q8BQR7, Q8IWY8, Q8IX06, Q8N660, Q8N7X4, Q8TD90, Q96DU7, Q96LZ2, Q96M61, Q99608

Diamond homologs: A0A7U2QYM2, A2A8L1, A2BIL7, B2RWS6, D3ZD32, D4A7T3, E9Q2Z1, F1QW93, F1R5H6, F4IXE7, F4KBP5, F7DRV9, G5EBZ4, O15016, O16102, O43918, O60885, O74964, O88379, O88491, O96028, O97159, P13709, P25440, P35817, P45481, Q07442, Q08D75, Q09472, Q12830, Q12873, Q13342, Q14839, Q15059, Q22516, Q32S26, Q338B9, Q4R8Y1, Q54UW4, Q58F21

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	0
Uncertain significance	140
Likely benign	65
Benign	11

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1323637	NM_080424.4(SP110):c.1114C>T (p.Arg372Ter)	Pathogenic
1392592	NM_080424.4(SP110):c.699del (p.Asp234fs)	Pathogenic
2816180	NM_080424.4(SP110):c.299del (p.Tyr100fs)	Pathogenic
2819031	NM_080424.4(SP110):c.80dup (p.His28fs)	Pathogenic
3660756	NM_080424.4(SP110):c.1103_1109del (p.Pro368fs)	Pathogenic
4718911	NM_080424.4(SP110):c.708del (p.Asp237fs)	Pathogenic
5537	NM_080424.4(SP110):c.642del (p.Ser215fs)	Pathogenic
65748	NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu)	Pathogenic

SpliceAI

4908 predictions. Top by Δscore:

Variant	Effect	Δscore
2:230209928:TACC:T	donor_loss	1.0000
2:230209929:A:AC	donor_gain	1.0000
2:230209929:ACCTT:A	donor_loss	1.0000
2:230209930:C:CC	donor_gain	1.0000
2:230209930:CCTTT:C	donor_gain	1.0000
2:230210007:CT:C	acceptor_gain	1.0000
2:230210008:TCTGA:T	acceptor_loss	1.0000
2:230210009:C:CC	acceptor_gain	1.0000
2:230211554:C:CC	acceptor_gain	1.0000
2:230212429:CA:C	acceptor_gain	1.0000
2:230212431:C:CC	acceptor_gain	1.0000
2:230214947:TACCA:T	donor_loss	1.0000
2:230214948:A:C	donor_loss	1.0000
2:230214949:C:A	donor_loss	1.0000
2:230214949:CCA:C	donor_gain	1.0000
2:230216925:CATC:C	acceptor_gain	1.0000
2:230216927:TC:T	acceptor_gain	1.0000
2:230216927:TCC:T	acceptor_loss	1.0000
2:230216928:CC:C	acceptor_gain	1.0000
2:230216929:C:CA	acceptor_loss	1.0000
2:230216929:C:CC	acceptor_gain	1.0000
2:230216930:T:C	acceptor_loss	1.0000
2:230217972:A:C	donor_gain	1.0000
2:230225901:CAGG:C	donor_loss	1.0000
2:230225903:GGT:G	donor_loss	1.0000
2:230225904:G:GA	donor_loss	1.0000
2:230243808:CCAGG:C	donor_loss	1.0000
2:230243809:CAGG:C	donor_loss	1.0000
2:230243810:AG:A	donor_loss	1.0000
2:230243811:GG:G	donor_loss	1.0000

AlphaMissense

5782 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:230237226:G:C	R68P	0.997
2:230237204:T:C	F61L	0.996
2:230237206:T:A	F61L	0.996
2:230237206:T:G	F61L	0.996
2:230237223:T:C	L67P	0.996
2:230238280:T:C	L102P	0.995
2:230237189:G:C	A56P	0.994
2:230237214:T:C	L64P	0.994
2:230237223:T:A	L67H	0.994
2:230238271:T:C	L99P	0.994
2:230237211:T:C	F63S	0.993
2:230238352:T:C	L126S	0.993
2:230292702:T:C	F628L	0.993
2:230292704:T:A	F628L	0.993
2:230292704:T:G	F628L	0.993
2:230311569:T:C	F827L	0.993
2:230311571:C:A	F827L	0.993
2:230311571:C:G	F827L	0.993
2:230237183:G:C	A54P	0.991
2:230237205:T:C	F61S	0.991
2:230311561:G:C	R824P	0.991
2:230237214:T:A	L64H	0.990
2:230311488:T:A	W800R	0.990
2:230311488:T:C	W800R	0.990
2:230312628:T:C	F850L	0.990
2:230312630:T:A	F850L	0.990
2:230312630:T:G	F850L	0.990
2:230237160:T:C	F46S	0.989
2:230237173:G:C	K50N	0.989
2:230237173:G:T	K50N	0.989

dbSNP variants (sampled 300 via entrez): RS1000008767 (2:230223532 T>A,C), RS1000068617 (2:230245967 A>AT), RS1000069645 (2:230265004 G>A,C), RS1000078540 (2:230224325 G>A,T), RS1000089728 (2:230254017 A>G), RS1000091846 (2:230274448 G>T), RS1000147713 (2:230308101 A>G), RS1000180379 (2:230250022 C>T), RS1000198974 (2:230290938 G>T), RS1000201797 (2:230226179 G>T), RS1000206644 (2:230198247 C>A), RS1000237990 (2:230219228 AAAC>A), RS1000238614 (2:230281815 C>A), RS1000299830 (2:230198564 C>T), RS1000315411 (2:230230739 A>G)

Disease associations

OMIM: gene MIM:608602 | disease phenotypes: MIM:235550

GenCC curated gene-disease

Mondo (1): hepatic veno-occlusive disease-immunodeficiency syndrome (MONDO:0009338)

Orphanet (1): Hepatic veno-occlusive disease-immunodeficiency syndrome (Orphanet:79124)

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000224_6	Chronic lymphocytic leukemia	6.000000e-10
GCST000879_13	Crohn’s disease	3.000000e-13
GCST001198_57	Multiple sclerosis	2.000000e-10
GCST001729_29	Crohn’s disease	1.000000e-16
GCST002073_12	Chronic lymphocytic leukemia	1.000000e-22
GCST002299_9	Chronic lymphocytic leukemia	5.000000e-13
GCST003542_13	Night sleep phenotypes	8.000000e-06
GCST004131_130	Inflammatory bowel disease	6.000000e-06
GCST004132_109	Crohn’s disease	1.000000e-13
GCST004146_4	Chronic lymphocytic leukemia	4.000000e-32
GCST004600_178	Eosinophil percentage of white cells	1.000000e-11
GCST004606_52	Eosinophil count	1.000000e-10
GCST004617_73	Eosinophil percentage of granulocytes	3.000000e-11
GCST004623_167	Neutrophil percentage of granulocytes	2.000000e-09
GCST004624_59	Sum eosinophil basophil counts	1.000000e-09
GCST005531_107	Multiple sclerosis	4.000000e-23
GCST005537_6	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	5.000000e-15
GCST005860_3	Cholangiocarcinoma in primary sclerosing cholangitis (time to event)	1.000000e-06
GCST009597_284	Multiple sclerosis	3.000000e-33
GCST90002381_333	Eosinophil count	7.000000e-18
GCST90002382_87	Eosinophil percentage of white cells	2.000000e-19
GCST90002388_180	Lymphocyte count	1.000000e-11
GCST90002389_7	Lymphocyte percentage of white cells	3.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537257	Hepatic venoocclusive disease with immunodeficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3108643 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Non-enzymatic BRD containing proteins

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
Nickel	increases expression	2
Tretinoin	increases expression	2
Cadmium Chloride	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
terbufos	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	increases expression	1
Fonofos	increases methylation	1
Parathion	increases methylation	1
Polychlorinated Biphenyls	affects expression	1
Paclitaxel	affects response to substance	1
Gold Compounds	decreases expression	1
Antirheumatic Agents	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3111497	Binding	Binding affinity to SP140 bromodomain (unknown origin) assessed as change in melting temperature at 10 uM by differential scanning fluorimetric analysis	[1,2,4]triazolo[4,3-a]phthalazines: inhibitors of diverse bromodomains. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1HQ	Abcam A-549 SP140 KO 1	Cancer cell line	Male
CVCL_B2Q9	Abcam A-549 SP140 KO 2	Cancer cell line	Male
CVCL_TQ09	HAP1 SP140 (-) 1	Cancer cell line	Male
CVCL_TQ10	HAP1 SP140 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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