Gene Name	CBFB
Gene ID	865
Gene Full Name	core-binding factor subunit beta
Gene Alias	CLCD2|PEBP2B
Transcripts	ENSG00000067955
Virus	HIV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Cytosol;
Membrane Info	Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q13951
HGNC ID	HGNC:1539
OMIM ID	121360
Summary	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	28302150	5WQVM8>4A	Vif	Vif	HIV Infections	G T	View
2	28302150	9IVW11>3A	Vif	Vif	HIV Infections	G T	View
3	28302150	D37A-W38A	Vif	Vif	HIV Infections	G T	View
4	28302150	E45A-S46A	Vif	Vif	HIV Infections	G T	View
5	28302150	H27A-H28A	Vif	Vif	HIV Infections	G T	View
6	28302150	H56A	Vif	Vif	HIV Infections	G T	View
7	28302150	I51A-S52A	Vif	Vif	HIV Infections	G T	View
8	28302150	I57A–P58A	Vif	Vif	HIV Infections	G T	View
9	28302150	I9A-V10A	Vif	Vif	HIV Infections	G T	View
10	28302150	M16A	Vif	Vif	HIV Infections	G T	View
11	28302150	N19A	Vif	Vif	HIV Infections	G T	View
12	28302150	P49A-K50A	Vif	Vif	HIV Infections	G T	View
13	28302150	Q12A–V13A	Vif	Vif	HIV Infections	G T	View
14	28302150	R17A	Vif	Vif	HIV Infections	G T	View
15	28302150	R23A–L24A	Vif	Vif	HIV Infections	G T	View
16	28302150	S53A–E54A	Vif	Vif	HIV Infections	G T	View
17	28302150	T20A	Vif	Vif	HIV Infections	G T	View
18	28302150	T47A-N48A	Vif	Vif	HIV Infections	G T	View
19	28302150	V55A	Vif	Vif	HIV Infections	G T	View
20	28302150	V7A-M8A	Vif	Vif	HIV Infections	G T	View
21	28302150	W11A	Vif	Vif	HIV Infections	G T	View
22	28302150	W5A	Vif	Vif	HIV Infections	G T	View
23	28302150	W5A-Q6A	Vif	Vif	HIV Infections	G T	View

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
4000522	chr16	356	32	11	399	View
4000995	chr16	25	31	174	230	View
4001175	chr16	200	0	0	200	View
4001428	chr16	166	1	0	167	View
4003226	chr16	40	24	2	66	View
4004092	chr16	48	1	0	49	View
4004395	chr16	29	11	5	45	View
4004891	chr16	37	1	0	38	View
4005454	chr16	25	4	3	32	View
4006595	chr16	20	4	0	24	View
4009923	chr16	3	6	1	10	View
4010195	chr16	0	9	0	9	View
4011711	chr16	5	1	0	6	View
4012072	chr16	3	1	1	5	View
4013439	chr16	3	0	0	3	View
4013870	chr16	1	2	0	3	View
4013984	chr16	3	0	0	3	View
4016832	chr16	22	13	65	100	View

Data ID	Experiment type	Sample number	Platform
C   GSE221688	Chip-seq;scATAC-Seq;scRNA-Seq	12	Illumina NovaSeq 6000 (Homo sapiens)
GSE99737	RNA-seq	9	Illumina HiSeq 2500 (Homo sapiens)
GSE144332	RNA-seq	75	NextSeq 550 (Homo sapiens)
C   GSE165705	Chip-seq	30	Illumina NovaSeq 6000 (Homo sapiens)
GSE164264	RNA-seq	6	BGISEQ-500 (Homo sapiens)
C   GSE30738	Chip-seq	2	Illumina Genome Analyzer II (Homo sapiens)
GSE262621	RNA-seq	70	Illumina NovaSeq 6000 (Homo sapiens)
GSE202410	scRNA-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE128121	RNA-seq	16	Illumina HiSeq 4000 (Homo sapiens)
GSE162914	RNA-seq	211	Illumina HiSeq 2500 (Homo sapiens)
GSE187515	scRNA-seq	104	Illumina MiSeq (Homo sapiens);Illumina HiSeq 4000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE279982	Methylation profiling (Array)	576	Infinium MethylationEPIC
C   GSE144329	ATAC-seq	96	NextSeq 550 (Homo sapiens)
GSE205204	RNA-seq	14	Illumina NovaSeq 6000 (Homo sapiens)
GSE125686	RNA-seq	62	Illumina HiSeq 2000 (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens)
GSE198339	scRNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE220859	Chip-seq	11	Illumina NovaSeq 6000 (Homo sapiens)
GSE165708	RNA-seq	100	Illumina HiSeq 4000 (Homo sapiens)
C   GSE211651	Chip-seq;RNA-seq;PRO-seq	39	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE68028	MeDIP-chip	1	NimbleGen Human DNA Methylation 2.1M Deluxe Promoter Array [100929_HG19_Deluxe_Prom_Meth_HX1]
C   GSE100376	ATAC-seq	24	Illumina NextSeq 500 (Homo sapiens)
GSE167211	RNA-seq	1	Illumina HiSeq 2000 (Homo sapiens)
GSE165132	RNA-seq	56	NextSeq 550 (Homo sapiens)
GSE228078	scRNA-seq	12	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE100266	ATAC-seq;Chip-seq;RNA-seq	32	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165703	ATAC-seq	82	Illumina HiSeq 4000 (Homo sapiens)
GSE148796	scRNA-seq	4	Illumina NextSeq 500 (Homo sapiens)
GSE246082	RNA-seq	6	Illumina HiSeq 4000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE221688 - CBFB peak across samples

Peak Plot

> Dataset: GSE165705 - CBFB peak across samples

Peak Plot

> Dataset: GSE30738 - CBFB peak across samples

Peak Plot

> Dataset: GSE144329 - CBFB peak across samples

Peak Plot

> Dataset: GSE220859 - CBFB peak across samples

Peak Plot

> Dataset: GSE211651 - CBFB peak across samples

Peak Plot

> Dataset: GSE100376 - CBFB peak across samples

Peak Plot

> Dataset: GSE100266 - CBFB peak across samples

Peak Plot

> Dataset: GSE165703 - CBFB peak across samples

Peak Plot