Hs05469739_cn

• Gene Symbol: CBFB
• Assay Reference Genome Location: Chr.16:67040097 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 865
• Gene Name: core-binding factor, beta subunit
• Gene Aliases: PEBP2B
• Location: Chr.16:67029147-67101058 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFB	NM_001755.2			NP_001746.1
	NM_022845.2			NP_074036.1
	XM_005256212.3			XP_005256269.1
	XM_006721321.2			XP_006721384.1
	XM_017023812.1			XP_016879301.1
	XM_017023813.1			XP_016879302.1
	AA020956.1
	AF294326.1			AAG01553.1
	AK290462.1
	AK291834.1
	AK311724.1
	BC018509.1			AAH18509.1
	BM679848.1
	BT006862.1			AAP35508.1
	L20298.1			AAA02868.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1840	Chr.16:67006846 - 67041549 on Build GRCh38	Insertion	CES4A CBFB
nsv516064	Chr.16:67039649 - 67091161 on Build GRCh38	Gain	CBFB
nsv509626	Chr.16:66983362 - 67044004 on Build GRCh38	Insertion	CES4A CBFB
nsv1056738	Chr.16:67021320 - 67091992 on Build GRCh38	Loss	CBFB

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

protein polyubiquitination
osteoblast differentiation
regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
lymphocyte differentiation
myeloid cell differentiation
positive regulation of transcription from RNA polymerase II promoter
cell maturation
definitive hemopoiesis

Function(s)

DNA binding
transcription factor activity, sequence-specific DNA binding
transcription cofactor activity
transcription coactivator activity
protein binding