Hs03952362_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88880023 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 863
• Gene Name: CBFA2/RUNX1 translocation partner 3
• Gene Aliases: ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4
• Location: Chr.16:88874855-88977198 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFA2T3	NM_005187.5			NP_005178.4
	NM_175931.2			NP_787127.1
	XM_005256323.4			XP_005256380.1
	XM_011523419.2			XP_011521721.1
	AB010419.1			BAA29061.1
	AB010420.1			BAA29062.1
	AK090985.1
	AK097904.1
	AK314766.1
	BC047019.1
	BC062624.1			AAH62624.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv37n68	Chr.16:88767460 - 88944903 on Build GRCh38	Loss	GALNS TRAPPC2L LOC105371409 CDT1 CBFA2T3 PABPN1L LOC101927793 LOC100129697 PIEZO1 LOC107987238 APRT
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	CDH15 GALNS LINC00304 LOC105371409 CTU2 LOC400558 ACSF3 PIEZO1 TRAPPC2L SLC22A31 CDT1 CBFA2T3 PABPN1L LOC101927793 ZNF778 LOC100129697 LOC100289580 LOC339059 MIR4722 LOC107987238 APRT
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	CBFA2T3 PABPN1L LOC101927793
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	CDH15 GALNS LINC00304 LOC105371409 LOC400558 ACSF3 TRAPPC2L SLC22A31 CDT1 CBFA2T3 PABPN1L LOC101927793 LOC100129697 LOC107987238 APRT
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	CDH15 GALNS LINC00304 LOC105371409 LOC400558 ACSF3 PIEZO1 TRAPPC2L SLC22A31 CDT1 LOC100287036 LOC105371414 CBFA2T3 PABPN1L LOC101927793 ZNF778 LOC100129697 LOC100289580 LOC339059 ANKRD11 LOC107987238 APRT
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	GALNS TRAPPC2L CDT1 CBFA2T3 PABPN1L LOC101927793 PIEZO1 LOC107987238 APRT
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	GALNS TRAPPC2L LOC105371409 CDT1 CBFA2T3 PABPN1L LOC101927793 LOC100129697 LOC107987238 APRT
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	CDH15 GALNS LINC00304 LOC105371409 LOC400558 ACSF3 TRAPPC2L CDT1 CBFA2T3 PABPN1L LOC101927793 LOC100129697 LOC107987238 APRT
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CDH15 LOC105371409 AFG3L1P CTU2 SNAI3-AS1 ACSF3 PIEZO1 SLC22A31 CBFA2T3 FAM157C ZNF778 LOC105371419 LOC101927817 TUBB8P7 MC1R SPG7 URAHP GAS8 CDT1 PABPN1L TCF25 LOC100289580 LOC339059 MIR4722 LOC107987238 IL17C APRT GAS8-AS1 CHMP1A DBNDD1 RPL13 TUBB3 SPATA33 FANCA VPS9D1 LOC107984817 MVD CENPBD1 LOC105371414 CYBA LOC101927793 ZNF276 RNF166 LOC100129697 CDK10 ANKRD11 GALNS CPNE7 LINC00304 DPEP1 LOC400558 SNORD68 TRAPPC2L SPATA2L PRDM7 LOC100287036 SNAI3 SPIRE2 DEF8 VPS9D1-AS1
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	GALNS TRAPPC2L CBFA2T3 PABPN1L
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	GALNS LOC105371409 CTU2 PIEZO1 TRAPPC2L CDT1 CBFA2T3 PABPN1L LOC101927793 LOC100129697 LOC100289580 LOC339059 MIR4722 LOC107987238 APRT

More Information

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

Panther Classification:

Molecular Function -

transcription cofactor

Gene Ontology Categories:

Process(es)

response to hypoxia
transcription, DNA-templated
cell proliferation
negative regulation of cell proliferation
granulocyte differentiation
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
negative regulation of glycolytic process
negative regulation of transcription, DNA-templated
regulation of aerobic respiration

Function(s)

transcription factor activity, sequence-specific DNA binding
transcription corepressor activity
protein binding
metal ion binding