Hs03919709_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88878520 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 13

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

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