Hs04749262_cn

• Gene Symbol: BBX
• Assay Reference Genome Location: Chr.3:107523784 on build GRCh38
• Cytoband: 3q13.12

Target Gene Details

• Entrez Gene ID: 56987
• Gene Name: BBX, HMG-box containing
• Gene Aliases: ARTC1, HBP2, HSPC339, MDS001
• Location: Chr.3:107522936-107811329 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBX	NM_001142568.2			NP_001136040.1
	NM_001276286.1			NP_001263215.1
	NM_020235.6			NP_064620.2
	XM_005247644.3			XP_005247701.1
	XM_011512999.2			XP_011511301.1
	XM_011513000.1			XP_011511302.1
	XM_011513001.1			XP_011511303.1
	XM_011513002.2			XP_011511304.1
	XM_011513003.2			XP_011511305.1
	XM_011513004.2			XP_011511306.1
	XM_011513005.2			XP_011511307.1
	XM_011513006.2			XP_011511308.1
	XM_011513007.2			XP_011511309.1
	XM_011513010.2			XP_011511312.1
	XM_017006881.1			XP_016862370.1
	XM_017006882.1			XP_016862371.1
	XM_017006883.1			XP_016862372.1
	AF161457.1			AAF29017.1
	AF276949.1			AAL68985.1
	AF283775.2
	AF454941.1			AAL58870.1
	AK057010.1
	AK291757.1
	AK314434.1
	BC131718.1
	DA218136.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv591266	Chr.3:107385775 - 107957486 on Build GRCh38	Gain	BBX LOC101929607 LINC00636 LINC00635
nsv829654	Chr.3:107435249 - 107587384 on Build GRCh38	Gain	BBX LOC101929607

More Information

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

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
bone development

Function(s)

DNA binding