Table 4.

Strong candidate inclusions to BMF/HM predisposition gene lists.

TF gene symbol	TF Family	DNA Binding Motif	Reported Human phenotype (Hematological)		MGI Mouse Phenotype (Hematological)	Role in hematopoiesis (downstream differentiation)	Known Interacting TF partners (STRING)	Target genes (TFs)
			OMIM	MONDO	Phenotypes			ENCODE and ChEA Consensus TFs from ChIP-X
GATA3	GATA	WGATAR	N/A	N/A	Abnormal T cell physiology and differentiation Abnormal definitive hematopoiesis Abnormal erythrocyte morphology	T Cells, HSC, NK cells, B cells, CLP	TAL1, IL5 IL33, IL33, STAT6, TBX21, FOXP3, IL13, SMAD3, ESR1, FOXA1	GATA1, SALL4, KLF4, MYC, E2F1, REST, TRIM28, SPI1, STAT3
SPI1 (PU.1)	ETS	GGAA	Decreased/absent circulating B cells Impaired B-cell development Lymphopenia Neutropenia	N/A	Transient neutropenia Abnormal granulocyte, neutrophil, macrophage, blood cell and B/T cell differentiation Increased hematopoietic stem cell proliferation/abnormal definitive hematopoiesis Abnormal common myeloid progenitor cell morphology Abnormal erythropoiesis, leukopoiesis	Monocyte, B cells, GMP, CLP, CMP, Granulocyte	IRF4, GATA1, CSF3R, EP300, JUN, TBP, GATA2, IRF8, CEBPE, CEBPA	SPI1, ELF1, FLI1, GABPA, TAF1, MAX, CREB1, UBTF, ATF2
ERG	ETS	GGA(A/T)	N/A	AML	Abnormal embryonic erythropoiesis Thrombocytopenia Decreased leukocyte HSC cell number Pancytopenia	No differentiation - specific role	TMPRSS2, AR, SPI1, RUNX2, CBFB	SPI1, TAF1, YY1, MAX, NFYB, UBTF, BRCA1, E2F1, MYC

Candidate inclusions to BMF/HM predisposition gene lists, ranked strong due to known role in hematopoiesis, previous disease association, pathogenicity predictor scores, and gene ontology. TF demonstrates similarities to known BMF/HM predisposition genes in reported human/mouse phenotypes, roles in downstream hematopoietic differentiation (15, 18–21) and known interacting TF partners and target genes. Known interacting partners collated through STRING (12) and target genes through ChEA from Chip-X (13).

NA, not applicable.