SPI1

Summary

SPI1 (Spi-1 proto-oncogene, HGNC:11241) is a protein-coding gene on chromosome 11p11.2, encoding Transcription factor PU.1 (P17947). Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites.

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6688 — RefSeq curated summary.

At a glance

• Gene–disease (curated): agammaglobulinemia 10, autosomal dominant (Definitive, ClinGen)
• GWAS associations: 53
• Clinical variants (ClinVar): 177 total — 23 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 38
• Transcription factor: yes — 393 downstream targets (CollecTRI)
• MANE Select transcript: NM_003120

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11241
Approved symbol	SPI1
Name	Spi-1 proto-oncogene
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	PU.1, SPI-A, OF, SFPI1, SPI-1
Ensembl gene	ENSG00000066336
Ensembl biotype	protein_coding
OMIM	165170
Entrez	6688

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000227163, ENST00000378538, ENST00000533030, ENST00000533968, ENST00000713542, ENST00000713543, ENST00000867000

RefSeq mRNA: 2 — MANE Select: NM_003120 NM_001080547, NM_003120

CCDS: CCDS44591, CCDS7933

Canonical transcript exons

ENST00000378538 — 5 exons

Exon	Start	End
ENSE00001098065	47359853	47360040
ENSE00001098067	47375633	47375729
ENSE00001129805	47358844	47359006
ENSE00001276240	47378309	47378547
ENSE00004020182	47354860	47355546

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 99.40.

FANTOM5 (CAGE): breadth broad, TPM avg 66.3863 / max 3925.2737, expressed in 582 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119595	41.5358	570
119594	8.7459	465
119590	4.8758	363
119591	4.1151	423
119592	3.6364	392
119593	2.5161	361
119589	0.9611	231

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.40	gold quality
monocyte	CL:0000576	99.20	gold quality
leukocyte	CL:0000738	98.71	gold quality
mononuclear cell	CL:0000842	98.67	gold quality
right lung	UBERON:0002167	97.29	gold quality
upper lobe of left lung	UBERON:0008952	96.29	gold quality
spleen	UBERON:0002106	96.16	gold quality
blood	UBERON:0000178	95.86	gold quality
upper lobe of lung	UBERON:0008948	94.57	gold quality
bone marrow cell	CL:0002092	93.11	gold quality
vermiform appendix	UBERON:0001154	91.53	gold quality
right coronary artery	UBERON:0001625	91.47	gold quality
lymph node	UBERON:0000029	90.59	gold quality
bone marrow	UBERON:0002371	89.99	gold quality
omental fat pad	UBERON:0010414	89.32	gold quality
peritoneum	UBERON:0002358	89.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.15	gold quality
gall bladder	UBERON:0002110	87.82	gold quality
left coronary artery	UBERON:0001626	87.51	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.33	gold quality
left uterine tube	UBERON:0001303	87.21	gold quality
right adrenal gland	UBERON:0001233	87.05	gold quality
descending thoracic aorta	UBERON:0002345	87.03	gold quality
right adrenal gland cortex	UBERON:0035827	87.01	gold quality
left adrenal gland	UBERON:0001234	86.90	gold quality
left adrenal gland cortex	UBERON:0035825	86.68	gold quality
coronary artery	UBERON:0001621	86.49	gold quality
apex of heart	UBERON:0002098	86.44	gold quality
caecum	UBERON:0001153	86.31	gold quality

Single-cell (SCXA)

Detected in 23 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	1371.35
E-MTAB-8142	yes	823.52
E-MTAB-9906	yes	568.95
E-HCAD-4	yes	235.02
E-HCAD-1	yes	93.56
E-MTAB-6701	yes	85.48
E-MTAB-8410	yes	55.76
E-GEOD-135922	yes	54.49
E-MTAB-10553	yes	50.10
E-HCAD-10	yes	41.77
E-CURD-46	yes	36.54
E-MTAB-9467	yes	35.88
E-GEOD-134144	yes	28.99
E-MTAB-10287	yes	28.98
E-MTAB-9221	yes	28.66

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

393 targets.

Target	Regulation
A2M
AAR2
ABL1
ACAN
ACP5	Activation
ADAM2
ADAR
ADGRE4P
AICDA	Unknown
AIF1
AKT1
ALDH1A2	Activation
ALOX15	Activation
ANP32A
ANXA1	Repression
AP1	Activation
APBB1IP	Unknown
APOE	Repression
APOM
ARG1
ATP11C
ATP1A3
ATP9B
AXIN1
B2M	Unknown
BACE1
BCL2	Repression
BCL2L1
BCL2L11
BCL6	Repression

JASPAR motifs

Motif	Name	Family
MA0080.1	SPI1	Ets-related
MA0080.2	SPI1	Ets-related
MA0080.4	SPI1	Ets-related
MA0080.5	SPI1	Ets-related

JASPAR matrix evidence (PMIDs): PMID:7624145, PMID:17916232

Upstream regulators (CollecTRI, top): AP1, BCL6, CEBPA, CEBPB, CEBPE, ESR1, ETV2, FLI1, FLT3, FOS, GATA1, GATA2, GATA3, GFI1, HBP1, HMGA1, HOXC13, HSF1, IKZF1, IRF4, IRF6, IRF8, JUN, JUND, KAT7, KDM6A, MYCN, PAX5, POU2F1, POU2F2, RARA, RBPJ, RUNX1, SATB1, SP1, SP3, SPI1, SPIC, STAT3, TBPL1

miRNA regulators (miRDB)

32 targeting SPI1, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-4788	95.82	66.85	73

Literature-anchored findings (GeneRIF, showing 40)

• PU.1 trans activation of gp91(phox) promoter (PMID:11926990)
• Loss of PU.1 expression is associated with defective immunoglobulin transcription in Hodgkin and Reed-Sternberg cells of classical Hodgkin disease. (PMID:11929801)
• Multiple PU.1 sites cooperate in the regulation of p40(phox) transcription during granulocytic differentiation of myeloid cells. (PMID:12036891)
• C/EBPalpha and PU.1 interact physically and colocalize in myeloid cells, and C/EBPalpha blocks the function of PU.1. (PMID:12091339)
• Heterozygous PU.1 mutations are associated with acute myeloid leukemia, causing disruption of PU.1 function, contributing to the block in cell differentiation found in AML patients. (PMID:12130514)
• Distinct functions for STAT1 and PU.1 in transcriptional activation of Fc gamma receptor I promoter. (PMID:12130529)
• Interacts with other transcription factors to regulate transcription of the gene encoding eosinophil granule major basic protein (PMID:12202480)
• PU.1 transcriptional activity is down-regulated by AML1-ETO in t(8;21) myeloid leukemia by physical binding. (PMID:12393465)
• Transactivation & DNA-binding domains of PU.1 were required for induction of Stat6-mediated transcription. The co-operation of PU.1 & Stat6 in Igepsilon gene transactivation fine-tunes cell-type-restricted expression of IL-4-induced gene responses. (PMID:12778491)
• PU.1 directly regulated the expression of only the glutathione peroxidase gene through binding sites in the promoter and a 3’ regulatory region. (PMID:12832449)
• PU.1 is critical in the terminal differentiation of human alveolar macrophages. (PMID:12896880)
• In conclusion, we provide evidence for AML-1, PU.1, and Sp3 cooperatively and directly mediating BPI-expression during myeloid differentiation. (PMID:14623259)
• MeCP2 acts as a corepressor of PU.1 probably due to facilitating complex formation with mSin3A and HDACs. (PMID:14647463)
• downregulated by Ehrlichia chaffeensis infection in monocytes (PMID:14706103)
• in B cells, E47 and PU.1/IRF-4 interact with the E-box motifs and the EICE, respectively, and act synergistically in the activation of CIITA-PIII (PMID:15242870)
• RANKL-induced cathepsin K gene expression is cooperatively regulated by the combination of the transcription factors and p38 MAP kinase in a gradual manner. (PMID:15304486)
• Antibodies to LSP1 and PU.1 may represent useful reagents for the differential diagnosis between T-cell-rich B-cell lymphoma and lymphocyte-predominant Hodgkin’s disease. (PMID:15339679)
• high PU.1 activity favors dendritic cells at the expense of macrophage fate by inhibiting expression and activity of the macrophage factor MafB. (PMID:15598817)
• The expression of PU.1 is a critical event for osteoclastogenesis. (PMID:15625130)
• nuclear import of the transcription factor PU.1 occurs via RanGTP-stimulated binding to Nup153 (PMID:15632149)
• Alteration of the PU.1 locus does not correlate with its suppressed expression in Hodgkin lymphoma. (PMID:15796964)
• PU.1 regulates the tissue-specific expression of dendritic cell-specific (ICAM)-3-grabbing nonintegrin. (PMID:16051608)
• PU.1 regulates RANK gene transcription; this may represent one of the key roles of PU.1 in osteoclast differentiation (PMID:16083856)
• Our results indicate that the NMTS region of Runx1 is required for functional interactions with PU.1. (PMID:16149049)
• PU.1 and Id2 modulate lineage options of langerhans cell precursors, downstream of TGF-beta1. (PMID:16223775)
• c-Myb and c-Ets family members (Ets-1/2, PU.1, and Spi-B) control hGR 1A promoter regulation in T- and B-lymphoblast cells (PMID:16263717)
• PU.1, in addition to its positive role in TAL-1 expression in early hematopoietic progenitors, may also act as a mediator of TAL-1 silencing in some hematopoietic lineages (PMID:16298389)
• The c.-292 T allele in the ALOX15 promoter generates a novel binding site for the transcription factor SPI1 that results in higher transcription of the gene in macrophages. (PMID:16320347)
• PU.1 is suppressed in acute promyelocytic leukemia, and that all-trans retinoic acid restores PU.1 expression in cells harboring t(15;17). (PMID:16352814)
• hydroquinone induces a dysregulation in the external signals modulating PU.1 protein phosphorylation and this dysregulation may be an early event in the generation of benzene-induced AML (PMID:16642264)
• Spi-1 affects splicing decisions in a promoter binding-dependent manner (PMID:16698794)
• PU.1-Ets domain and the GATA-1 C-terminal zinc finger (CF) form a low affinity interaction in which specific regions of each protein are implicated. (PMID:16861236)
• The mechanism of action of VIP on monocyte differentiation may be via inhibition of the transcription factor PU.1. (PMID:16973891)
• IRF8 cooperates with PU.1 and IRF-2 to activate a composite ets/IRF-cis element in the NF1 promoter. The conserved IRF domain tyrosine in ICSBP/IRF8 is required for interaction with the DNA-bound PU.1-IRF2 heterodimer. (PMID:17200120)
• findings provide an insight into the structure of the hematopoietic cell-specific P2 promoter of the SHP-1 gene and identify PU.1 as the transcriptional activator of the P2 promoter (PMID:17218319)
• IRF8 is involved in a cooperative interaction with transcription factors Spi-1/PU.1 and non-tyrosine phosphorylated Stat1 in the formation of a pre-associated, poised complex for interleukin 1-beta gene induction. (PMID:17386941)
• data strongly indicate that germline mutations in SPI1 and MADD genes do not confer a high risk of chronic lymphocytic leukaemia and do not make a major contribution to the familial risk of the disease (PMID:17410194)
• PU.1 was down-regulated in the majority of human myeloma cell lines and a subset of freshly isolated myeloma cells, in contrast to relatively high expression of PU.1 in normal plasma cells. (PMID:17545613)
• The type IV isoform of PML interacted with PU.1, promoted its association with p300, and then enhanced PU.1-induced transcription and granulocytic differentiation and PU.1 directly activates the transcription of the C/EBPepsilon gene. (PMID:17562868)
• Ski-mediated repression of PU.1 is due to Ski’s ability to recruit histone deacetylase 3 to PU.1 bound to DNA. (PMID:17621263)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	spi1b	ENSDARG00000000767
mus_musculus	Spi1	ENSMUSG00000002111
rattus_norvegicus	Spi1	ENSRNOG00000012172

Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)

Protein

Protein identifiers

Transcription factor PU.1 — P17947 (reviewed: P17947)

Alternative names: 31 kDa-transforming protein

All UniProt accessions (5): P17947, A0AAA9YHK5, A0AAA9YHU6, F5GZ94, F5H3K6

UniProt curated annotations — full annotation on UniProt →

Function. Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions. Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R. Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1. May be particularly important for the pro- to pre-B cell transition. Binds (via the ETS domain) onto the purine-rich DNA core sequence 5’-GAGGAA-3’, also known as the PU-box. In vitro can bind RNA and interfere with pre-mRNA splicing.

Subunit / interactions. Binds DNA as a monomer. Can form homomers. Directly interacts with CEBPD/NF-IL6-beta; this interaction does not affect DNA-binding properties of each partner. Interacts with NONO/p54(nrb). Interacts with RUNX1/AML1. Interacts with GFI1; the interaction represses SPI1 transcriptional activity, hence blocks SPI1-induced macrophage differentiation of myeloid progenitor cells. Interacts with CEBPE. Interacts with IRF4/Pip and IRF8. Interacts with JUN. Interacts with RB1. Interacts with TBP.

Subcellular location. Nucleus.

Tissue specificity. In the bone marrow, concentrated in hematopoietic stem cell, lymphoid progenitor, myeloid lineage (granulocyte macrophage progenitors, classical dendritic cells, monocytes) and B-cell clusters. Among B-cells, predominantly expressed in pre-B1 cells. Expressed in germinal center B-cells.

Disease relevance. Agammaglobulinemia 10, autosomal dominant (AGM10) [MIM:619707] A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Transcriptional activity at macrophage-specific genes is inhibited by interaction with GFI1, which results in the inhibition of SPI1-induced macrophage differentiation of myeloid progenitor cells, but not that of the granulocyte lineage.

Induction. Highly expressed in both FV-P and FV-A-induced erythro-leukemia cell lines that have undergone rearrangements of the SPI1 gene due to the insertion of SFFV. Negatively regulated by microRNA-155 (miR-155).

Similarity. Belongs to the ETS family.

Isoforms (2)

UniProt ID	Names	Canonical?
P17947-1	1	yes
P17947-2	2

RefSeq proteins (2): NP_001074016, NP_003111* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000418	Ets_dom	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR046328	ETS_fam	Family

Pfam: PF00178

UniProt features (27 total): helix 5, sequence variant 4, strand 4, binding site 4, turn 3, modified residue 2, chain 1, DNA-binding region 1, splice variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

35 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8EE9	X-RAY DIFFRACTION	1.22
8EO4	X-RAY DIFFRACTION	1.24
8ENG	X-RAY DIFFRACTION	1.25
8E3K	X-RAY DIFFRACTION	1.28
8EO1	X-RAY DIFFRACTION	1.28
8E5Y	X-RAY DIFFRACTION	1.32
8EBH	X-RAY DIFFRACTION	1.33
8EK3	X-RAY DIFFRACTION	1.38
8E4H	X-RAY DIFFRACTION	1.39
8EJ6	X-RAY DIFFRACTION	1.39
8EQG	X-RAY DIFFRACTION	1.39
8EKZ	X-RAY DIFFRACTION	1.42
9OA4	X-RAY DIFFRACTION	1.42
8E3R	X-RAY DIFFRACTION	1.45
8EJ8	X-RAY DIFFRACTION	1.45
8EQK	X-RAY DIFFRACTION	1.45
8T9U	X-RAY DIFFRACTION	1.47
8EKU	X-RAY DIFFRACTION	1.52
8EQL	X-RAY DIFFRACTION	1.52
8EKJ	X-RAY DIFFRACTION	1.54
8EMD	X-RAY DIFFRACTION	1.55
8EKV	X-RAY DIFFRACTION	1.62
8VDH	X-RAY DIFFRACTION	1.64
8UFF	X-RAY DIFFRACTION	1.66
9CK2	X-RAY DIFFRACTION	1.71
8V9N	X-RAY DIFFRACTION	1.78
9OB0	X-RAY DIFFRACTION	1.79
8VDI	X-RAY DIFFRACTION	1.93
9YNZ	X-RAY DIFFRACTION	2.05
9CMB	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P17947-F1	65.89	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.

Ligand- & substrate-binding residues (4): 217 (forms a salt bridge with the phosphate backbone of the opposite strand downstream of the ggaa core sequence); 230 (contacts bases in the ggaa sequence in the major groove); 233 (contacts bases in the ggaa sequence in the major groove); 243 (contacts the phosphate backbone of the ggaa sequence in the minor groove upstream)

Post-translational modifications (2): 140, 146

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-9616222	Transcriptional regulation of granulopoiesis
R-HSA-1266738	Developmental Biology
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1

MSigDB gene sets: 576 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_ETHANOL, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, GOBP_DENDRITIC_CELL_DIFFERENTIATION, MYOGENIN_Q6, GOBP_DENDRITIC_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID

GO Biological Process (50): negative regulation of transcription by RNA polymerase II (GO:0000122), germinal center B cell differentiation (GO:0002314), follicular B cell differentiation (GO:0002316), immature B cell differentiation (GO:0002327), defense response to tumor cell (GO:0002357), pro-T cell differentiation (GO:0002572), myeloid leukocyte differentiation (GO:0002573), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transforming growth factor beta receptor signaling pathway (GO:0007179), negative regulation of gene expression (GO:0010629), cell differentiation (GO:0030154), erythrocyte differentiation (GO:0030218), macrophage differentiation (GO:0030225), osteoclast differentiation (GO:0030316), granulocyte differentiation (GO:0030851), lipopolysaccharide-mediated signaling pathway (GO:0031663), somatic stem cell population maintenance (GO:0035019), TRAIL-activated apoptotic signaling pathway (GO:0036462), myeloid dendritic cell differentiation (GO:0043011), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), negative regulation of neutrophil degranulation (GO:0043314), negative regulation of MHC class II biosynthetic process (GO:0045347), positive regulation of B cell differentiation (GO:0045579), regulation of erythrocyte differentiation (GO:0045646), transcription initiation-coupled chromatin remodeling (GO:0045815), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), anatomical structure regression (GO:0060033), interleukin-6-mediated signaling pathway (GO:0070102), cellular response to ethanol (GO:0071361), oncogene-induced cell senescence (GO:0090402), endothelial to hematopoietic transition (GO:0098508), negative regulation of protein localization to chromatin (GO:0120186), positive regulation of p38MAPK cascade (GO:1900745), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223), apoptotic process involved in blood vessel morphogenesis (GO:1902262), positive regulation of miRNA transcription (GO:1902895), positive regulation of microglial cell mediated cytotoxicity (GO:1904151), negative regulation of adipose tissue development (GO:1904178)

GO Molecular Function (20): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA-binding transcription activator activity (GO:0001216), DNA-binding transcription repressor activity (GO:0001217), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), RNA binding (GO:0003723), histone deacetylase binding (GO:0042826), sequence-specific DNA binding (GO:0043565), NFAT protein binding (GO:0051525), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), STAT family protein binding (GO:0097677), DNA-binding transcription factor binding (GO:0140297), protein sequestering activity (GO:0140311), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	1
Developmental Biology	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
myeloid leukocyte differentiation	4
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
transcription cis-regulatory region binding	4
DNA-binding transcription factor activity	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
mature B cell differentiation involved in immune response	2
myeloid cell differentiation	2
regulation of gene expression	2
regulation of DNA-templated transcription	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
binding	2
nucleic acid binding	2
RNA polymerase II-specific DNA-binding transcription factor binding	2
B cell differentiation	1
response to tumor cell	1
defense response	1
lymphoid progenitor cell differentiation	1
T cell differentiation	1
leukocyte differentiation	1
DNA-templated transcription	1
regulation of RNA biosynthetic process	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
gene expression	1
negative regulation of macromolecule biosynthetic process	1
cellular developmental process	1
erythrocyte homeostasis	1
mononuclear cell differentiation	1
cell surface receptor signaling pathway	1
cellular response to lipopolysaccharide	1
stem cell population maintenance	1
extrinsic apoptotic signaling pathway via death domain receptors	1
myeloid dendritic cell activation	1
dendritic cell differentiation	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1

Protein interactions and networks

STRING

3678 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPI1	IRF8	Q02556	998
SPI1	IRF4	Q15306	994
SPI1	GATA1	P15976	992
SPI1	JUN	P05412	990
SPI1	FOS	P01100	965
SPI1	CEBPA	P49715	958
SPI1	MITF	O75030	957
SPI1	IRF1	P10914	936
SPI1	TET2	Q6N021	918
SPI1	GATA2	P23769	917
SPI1	DNMT3A	Q9Y6K1	917
SPI1	RUNX1	Q01196	914
SPI1	CENPV	Q7Z7K6	880
SPI1	HNRNPK	P61978	879
SPI1	CSF1R	P07333	859

IntAct

48 interactions, top by confidence:

A	B	Type	Score
GATA2	SPI1	psi-mi:“MI:0915”(physical association)	0.640
SPI1	GATA2	psi-mi:“MI:0915”(physical association)	0.640
SPI1	GATA2	psi-mi:“MI:0407”(direct interaction)	0.640
SPI1	PML-RAR	psi-mi:“MI:0915”(physical association)	0.540
SPI1	PML-RAR	psi-mi:“MI:0403”(colocalization)	0.540
SPI1	HOXA10	psi-mi:“MI:0915”(physical association)	0.520
SPI1	PRKDC	psi-mi:“MI:0407”(direct interaction)	0.520
SPI1	YTHDC1	psi-mi:“MI:0915”(physical association)	0.400
SPI1	GFI1	psi-mi:“MI:0915”(physical association)	0.400
PRKCD	SPI1	psi-mi:“MI:0915”(physical association)	0.400
	SPI1	psi-mi:“MI:0915”(physical association)	0.370
IL12B	SPI1	psi-mi:“MI:0915”(physical association)	0.370
IL33	SPI1	psi-mi:“MI:0915”(physical association)	0.370
LTB	SPI1	psi-mi:“MI:0915”(physical association)	0.370
XCL2	SPI1	psi-mi:“MI:0915”(physical association)	0.370
TMX1	SPI1	psi-mi:“MI:0915”(physical association)	0.370
KLF4	SPI1	psi-mi:“MI:0914”(association)	0.350

BioGRID (97): Crebbp (Reconstituted Complex), SPI1 (Affinity Capture-Western), SPI1 (Reconstituted Complex), IRF2 (Reconstituted Complex), IRF8 (Reconstituted Complex), SPI1 (Affinity Capture-MS), SPI1 (Biochemical Activity), SPI1 (Biochemical Activity), CREM (Reconstituted Complex), ATF1 (Reconstituted Complex), ETS1 (Reconstituted Complex), ETS2 (Reconstituted Complex), ETV1 (Reconstituted Complex), FOS (Reconstituted Complex), JUN (Reconstituted Complex)

ESM2 similar proteins: A0FIN4, A2VD01, A9ZLX4, D2HNW6, D4A7U2, O88974, O94988, P10914, P14316, P15314, P16236, P17433, P17947, P23570, P23906, P49140, Q00IB7, Q13506, Q13905, Q15047, Q1LY51, Q3B7M3, Q3SZP0, Q3TTA7, Q3UWM4, Q4V7W5, Q5HYC2, Q5RJA1, Q5XJV7, Q61122, Q62722, Q6A098, Q6AI12, Q6BDS1, Q6DFR2, Q6GQL0, Q6PKU1, Q6ZMT4, Q6ZNC4, Q80TJ7

Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O35906, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P17433, P17947, P18755, P18756, P19102, P19419, P20105, P27577, P28322, P28324, P29773, P29774, P29775

SIGNOR signaling

49 interactions.

A	Effect	B	Mechanism
SPI1	“up-regulates activity”	IRF8	binding
SPI1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
JUN	“up-regulates activity”	SPI1	binding
SPI1	“up-regulates quantity by expression”	ITGAM	“transcriptional regulation”
AML1-ETO	“down-regulates activity”	SPI1	binding
SPI1	“up-regulates quantity by expression”	CD14	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	FCGR1A	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	miR-155	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	miR-338	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	MEIS1	“transcriptional regulation”
SPI1	“down-regulates activity”	TAL1	binding
GATA1	“down-regulates activity”	SPI1	binding
SPI1	“up-regulates quantity by expression”	FLI1	“transcriptional regulation”
SPI1	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	SPI1	“transcriptional regulation”
GATA2	“down-regulates activity”	SPI1	binding
SPI1	up-regulates	Monocyte_differentiation
SPI1	up-regulates	Differentiation
SPI1	“up-regulates quantity by expression”	TAL2	“transcriptional regulation”
KDM6A	“down-regulates quantity by repression”	SPI1	“transcriptional regulation”
AP1	“up-regulates activity”	SPI1	binding
SPI1	“down-regulates quantity by repression”	ANXA1	“transcriptional regulation”
GSK3B	“down-regulates quantity by destabilization”	SPI1	phosphorylation
SPI1	“down-regulates quantity by repression”	CD68	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	ACP5	“transcriptional regulation”
RUNX1	“up-regulates quantity by expression”	SPI1	“transcriptional regulation”
KMT2A	“up-regulates quantity by expression”	SPI1	methylation
“Core Binding Factor complex”	“up-regulates quantity by expression”	SPI1	methylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	23
Likely pathogenic	3
Uncertain significance	32
Likely benign	4
Benign	108

Top pathogenic / likely-pathogenic (26)

Variant ID	HGVS	Classification
1335903	NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter)	Pathogenic
1459820	NC_000011.9:g.(?46880534)(47470516_?)del	Pathogenic
2506651	NM_003120.3(SPI1):c.143-2A>C	Pathogenic
3341167	NM_003120.3(SPI1):c.100G>T (p.Glu34Ter)	Pathogenic
3341168	NM_003120.3(SPI1):c.471del (p.Leu159fs)	Pathogenic
3341179	NM_003120.3(SPI1):c.525C>A (p.Phe175Leu)	Pathogenic
3341190	NM_003120.3(SPI1):c.538C>T (p.Leu180Phe)	Pathogenic
3341200	NM_003120.3(SPI1):c.571T>C (p.Trp191Arg)	Pathogenic
3341201	NM_003120.3(SPI1):c.639G>A (p.Trp213Ter)	Pathogenic
3341202	NM_003120.3(SPI1):c.676C>T (p.Gln226Ter)	Pathogenic
3341203	NM_003120.3(SPI1):c.701del (p.Asn234fs)	Pathogenic
3341204	NM_003120.3(SPI1):c.112del (p.Tyr38fs)	Pathogenic
3341205	NM_003120.3(SPI1):c.733AAG[2] (p.Lys247del)	Pathogenic
3341235	NM_003120.3(SPI1):c.346C>T (p.Arg116Trp)	Pathogenic
3341255	NM_003120.3(SPI1):c.407del (p.Gly136fs)	Pathogenic
3341265	NM_003120.3(SPI1):c.438dup (p.Asp147Ter)	Pathogenic
3341276	NM_003120.3(SPI1):c.441del (p.Asp147fs)	Pathogenic
3392519	NM_003120.3(SPI1):c.536T>C (p.Leu179Pro)	Pathogenic
4526589	NM_003120.3(SPI1):c.130G>T (p.Glu44Ter)	Pathogenic
585156	NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)	Pathogenic
801323	NM_003120.3(SPI1):c.363C>G (p.Tyr121Ter)	Pathogenic
989449	NM_003120.3(SPI1):c.693_694del (p.Leu232fs)	Pathogenic
989450	NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)	Pathogenic
3075679	NM_003120.3(SPI1):c.573G>A (p.Trp191Ter)	Likely pathogenic
801321	NM_003120.3(SPI1):c.722T>G (p.Val241Gly)	Likely pathogenic
801322	NM_003120.3(SPI1):c.632A>C (p.His211Pro)	Likely pathogenic

SpliceAI

829 predictions. Top by Δscore:

Variant	Effect	Δscore
11:47360037:TGGT:T	acceptor_gain	1.0000
11:47355543:CTGC:C	acceptor_gain	0.9900
11:47355547:C:CC	acceptor_gain	0.9900
11:47355547:CTGC:C	acceptor_loss	0.9900
11:47355548:T:A	acceptor_loss	0.9900
11:47359781:T:TA	donor_gain	0.9900
11:47360036:ATGGT:A	acceptor_gain	0.9900
11:47360038:GGT:G	acceptor_gain	0.9900
11:47360040:TCTG:T	acceptor_loss	0.9900
11:47360041:C:CC	acceptor_gain	0.9900
11:47360041:CTGT:C	acceptor_loss	0.9900
11:47360042:T:C	acceptor_loss	0.9900
11:47375632:CCG:C	donor_gain	0.9900
11:47378307:A:AC	donor_gain	0.9900
11:47378308:C:CC	donor_gain	0.9900
11:47378331:T:TA	donor_gain	0.9900
11:47408658:GCACG:G	donor_gain	0.9900
11:47408660:ACGGT:A	donor_loss	0.9900
11:47408662:GGT:G	donor_loss	0.9900
11:47408663:G:GC	donor_loss	0.9900
11:47408663:G:GG	donor_gain	0.9900
11:47408664:T:A	donor_loss	0.9900
11:47408665:GAGT:G	donor_loss	0.9900
11:47408774:G:GT	donor_gain	0.9900
11:47355544:TGC:T	acceptor_gain	0.9800
11:47359906:T:C	donor_gain	0.9800
11:47359918:C:CA	donor_gain	0.9800
11:47360039:GT:G	acceptor_gain	0.9800
11:47375625:GTAC:G	donor_loss	0.9800
11:47375626:TACT:T	donor_loss	0.9800

AlphaMissense

1795 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:47355284:G:C	F252L	1.000
11:47355284:G:T	F252L	1.000
11:47355285:A:C	F252C	1.000
11:47355285:A:G	F252S	1.000
11:47355286:A:G	F252L	1.000
11:47355288:T:G	Q251P	1.000
11:47355291:T:C	Y250C	1.000
11:47355291:T:G	Y250S	1.000
11:47355292:A:C	Y250D	1.000
11:47355292:A:G	Y250H	1.000
11:47355292:A:T	Y250N	1.000
11:47355297:A:G	L248P	1.000
11:47355297:A:T	L248H	1.000
11:47355299:C:A	K247N	1.000
11:47355299:C:G	K247N	1.000
11:47355301:T:C	K247E	1.000
11:47355311:C:A	K243N	1.000
11:47355311:C:G	K243N	1.000
11:47355313:T:C	K243E	1.000
11:47355318:A:T	V241D	1.000
11:47355324:C:A	G239V	1.000
11:47355336:T:C	Y235C	1.000
11:47355337:A:C	Y235D	1.000
11:47355337:A:G	Y235H	1.000
11:47355338:G:C	N234K	1.000
11:47355338:G:T	N234K	1.000
11:47355340:T:C	N234D	1.000
11:47355342:C:A	R233L	1.000
11:47355342:C:G	R233P	1.000
11:47355342:C:T	R233H	1.000

dbSNP variants (sampled 300 via entrez): RS1000055357 (11:47372801 C>G), RS1000118259 (11:47391929 G>A), RS1000303349 (11:47356961 T>C), RS1000342945 (11:47397318 T>G), RS1000355167 (11:47357031 TCACA>T,TCA), RS1000464496 (11:47379971 G>A,C), RS1000539841 (11:47360166 C>A,T), RS1000557418 (11:47384789 A>C), RS1000608258 (11:47361772 T>C,G), RS1000634252 (11:47356399 G>A), RS1000662585 (11:47374265 G>A,C), RS1000716875 (11:47367627 A>G), RS1000876324 (11:47378322 G>A), RS1000949646 (11:47373985 A>G), RS1001063606 (11:47366842 G>GAAAAGAA)

Disease associations

OMIM: gene MIM:165170 | disease phenotypes: MIM:601495, MIM:619707, MIM:616326, MIM:208150

GenCC curated gene-disease

Disease	Classification	Inheritance
agammaglobulinemia 10, autosomal dominant	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
agammaglobulinemia 10, autosomal dominant	Definitive	AD

Mondo (4): agammaglobulinemia (MONDO:0015977), agammaglobulinemia 10, autosomal dominant (MONDO:0030529), congenital myasthenic syndrome 11 (MONDO:0014588), fetal akinesia deformation sequence 1 (MONDO:0100101)

Orphanet (3): Agammaglobulinemia (Orphanet:183669), Congenital myasthenic syndrome (Orphanet:590), Fetal akinesia deformation sequence (Orphanet:994)

HPO phenotypes

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

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0000246	Sinusitis
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000377	Abnormal pinna morphology
HP:0000389	Chronic otitis media
HP:0000509	Conjunctivitis
HP:0000988	Skin rash
HP:0001287	Meningitis
HP:0001369	Arthritis
HP:0001508	Failure to thrive
HP:0001581	Recurrent skin infections
HP:0001875	Decreased total neutrophil count
HP:0001944	Dehydration
HP:0001945	Fever
HP:0002014	Diarrhea
HP:0002024	Malabsorption
HP:0002110	Bronchiectasis
HP:0002205	Recurrent respiratory infections
HP:0002719	Recurrent infections
HP:0002720	Decreased circulating IgA concentration
HP:0002721	Immunodeficiency
HP:0002754	Osteomyelitis
HP:0002850	Decreased circulating total IgM
HP:0003577	Congenital onset
HP:0004315	Decreased circulating IgG concentration
HP:0004432	Agammaglobulinemia
HP:0011108	Recurrent sinusitis
HP:0012115	Hepatitis

GWAS associations

53 associations (top):

Study	Trait	p-value
GCST002580_1	Intraocular pressure	1.000000e-11
GCST005232_56	Neuroticism	1.000000e-16
GCST005580_201	Intraocular pressure	3.000000e-26
GCST005905_14	Global electrical heterogeneity phenotypes	6.000000e-09
GCST006088_65	Familial squamous cell lung carcinoma	8.000000e-06
GCST006716_13	Alcohol use disorder (total score)	6.000000e-09
GCST006923_11	Loneliness	1.000000e-07
GCST006924_13	Loneliness (MTAG)	1.000000e-08
GCST006944_47	Experiencing mood swings	6.000000e-11
GCST007615_32	C-reactive protein levels	2.000000e-08
GCST007825_4	Alzheimer’s disease or fasting glucose levels (pleiotropy)	3.000000e-16
GCST007928_1	Medication use (diuretics)	9.000000e-12
GCST008059_21	Estimated glomerular filtration rate	2.000000e-15
GCST008062_112	Blood urea nitrogen levels	1.000000e-08
GCST008962_5	Hematology traits	4.000000e-07
GCST010002_238	Refractive error	2.000000e-14
GCST010136_2	Fruit consumption	5.000000e-09
GCST010241_42	Apolipoprotein A1 levels	2.000000e-15
GCST010703_36	Brain morphology (MOSTest)	8.000000e-09
GCST010796_2362	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-12
GCST010796_2363	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_2364	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-10
GCST010796_2365	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_2366	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-10
GCST010796_2367	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_2368	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_2369	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_2370	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_2371	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_2372	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0007660	neuroticism measurement
EFO:0004327	electrocardiography
EFO:0006953	family history of lung cancer
EFO:0009458	alcohol use disorder measurement
EFO:0007865	loneliness measurement
EFO:0008475	mood instability measurement
EFO:0004458	C-reactive protein measurement
EFO:0009928	Diuretic use measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D000361	Agammaglobulinemia	C15.378.147.142; C15.604.515.032; C20.673.088
C563831	Myasthenic Syndrome, Congenital, Ie (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	decreases reaction, affects reaction, affects expression, decreases expression, affects binding (+2 more)	8
pomalidomide	decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
Air Pollutants	increases expression, affects expression, increases abundance	2
Benzo(a)pyrene	affects activity, increases methylation	2
Nickel	increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
cypermethrin	decreases reaction, increases expression	1
3-phenoxybenzoic acid	decreases reaction, increases expression	1
2-bromopalmitate	increases expression, increases reaction	1
nickel chloride	increases expression	1
saikosaponin D	increases expression, decreases reaction	1
benzo(e)pyrene	decreases methylation, increases methylation	1
indirubin	increases activity	1
aflatoxin B2	decreases methylation	1
hydroquinone	increases phosphorylation	1
fluorotelomer alcohols	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
tebuconazole	decreases expression	1
SCH772984	decreases reaction, increases expression	1
Decitabine	affects methylation	1
Arsenic Trioxide	increases methylation	1
Acetylcysteine	decreases reaction, increases expression	1
Arecoline	increases reaction, affects localization, increases expression, affects binding	1
Latex	increases expression	1
Methapyrilene	decreases methylation, increases methylation	1
Ozone	affects expression, increases abundance	1
Perfume	increases expression	1
T-2 Toxin	increases expression	1

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6P7	SEES3-1V human SPI1, clone1	Embryonic stem cell	Male
CVCL_A6P8	SEES3-1V human SPI1, clone2	Embryonic stem cell	Male
CVCL_A6P9	SEES3-1V human SPI1, clone3	Embryonic stem cell	Male
CVCL_B8Q2	Abcam HCT 116 SPI1 KO	Cancer cell line	Male
CVCL_B9SI	Abcam A-549 SPI1 KO	Cancer cell line	Male
CVCL_D2HB	Abcam MCF-7 SPI1 KO	Cancer cell line	Female
CVCL_E8TQ	BCWM.2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00520494	PHASE4	COMPLETED	Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency
NCT05612607	PHASE4	UNKNOWN	Switched Memory B-cells as a Marker for Humoral Immune System Recovery in Patients With Secondary Antibody Deficiency Due to Hematological Malignancies
NCT07135427	PHASE4	RECRUITING	Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency
NCT00168012	PHASE3	COMPLETED	Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID)
NCT00168025	PHASE3	COMPLETED	Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)
NCT00220766	PHASE3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT00322556	PHASE3	COMPLETED	Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)
NCT01581593	PHASE3	COMPLETED	Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID)
NCT03578341	PHASE3	UNKNOWN	Oral Colostrum and Its Effect on Immune System
NCT06954441	PHASE3	RECRUITING	V-IMMUNE: A Novel Immunoglobulin Therapy for Immunodeficiency
NCT00161993	PHASE2	COMPLETED	Safety, Pharmacokinetic and Efficacy Study of a 10% Triple Virally Reduced Intravenous Immune Globulin Solution in Patients With Primary Immunodeficiency (Hypo- or Agammaglobulinemia)
NCT05584631	PHASE1	RECRUITING	IVIG vs SCIG in CIDP
NCT00661401	Not specified	COMPLETED	Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin
NCT02972281	Not specified	COMPLETED	Systematic Search for Primary Immunodeficiency in Adults With Infections