Hs03934664_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88877817 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 Exon 14

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	12	2528	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	PIEZO1 APRT LOC105371409 CDT1 TRAPPC2L GALNS PABPN1L LOC101927793 LOC107987238 CBFA2T3 LOC100129697
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC105371409 ACSF3 GALNS MIR4722 LOC101927793 LOC400558 LOC339059 LOC107987238 CTU2 LINC00304 PIEZO1 SLC22A31 APRT CDT1 ZNF778 TRAPPC2L CDH15 LOC100289580 PABPN1L CBFA2T3 LOC100129697
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	PABPN1L LOC101927793 CBFA2T3
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	LOC105371409 ACSF3 GALNS LOC101927793 LOC400558 LOC107987238 LINC00304 SLC22A31 APRT CDT1 TRAPPC2L CDH15 PABPN1L CBFA2T3 LOC100129697
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC105371409 ACSF3 GALNS LOC105371414 ANKRD11 LOC101927793 LOC400558 LOC339059 LOC107987238 LOC100287036 LINC00304 PIEZO1 SLC22A31 APRT CDT1 ZNF778 TRAPPC2L CDH15 LOC100289580 PABPN1L CBFA2T3 LOC100129697
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	PIEZO1 APRT CDT1 TRAPPC2L GALNS PABPN1L LOC101927793 LOC107987238 CBFA2T3
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	LOC105371409 ACSF3 GALNS LOC101927793 LOC400558 LOC107987238 LINC00304 APRT CDT1 TRAPPC2L CDH15 PABPN1L CBFA2T3 LOC100129697
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	APRT LOC105371409 CDT1 TRAPPC2L GALNS PABPN1L LOC101927793 LOC107987238 CBFA2T3 LOC100129697
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	RPL13 RNF166 URAHP TUBB3 SPATA33 IL17C ANKRD11 LOC400558 LOC339059 CTU2 VPS9D1-AS1 CYBA SPATA2L SLC22A31 APRT FAM157C CDK10 PABPN1L MVD ACSF3 DPEP1 GAS8-AS1 LOC100287036 PIEZO1 CDT1 CDH15 SNORD68 ZNF276 GAS8 SNAI3-AS1 GALNS LOC105371414 MIR4722 DEF8 LOC101927793 LOC107987238 VPS9D1 DBNDD1 SPG7 ZNF778 TCF25 TRAPPC2L SNAI3 LOC100289580 LOC105371419 CENPBD1 CHMP1A CBFA2T3 SPIRE2 LOC105371409 PRDM7 MC1R AFG3L1P CPNE7 LINC00304 LOC107984817 LOC101927817 TUBB8P7 FANCA LOC100129697
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	TRAPPC2L GALNS PABPN1L CBFA2T3
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	GALNS MIR4722 LOC101927793 LOC339059 LOC107987238 CTU2 PIEZO1 APRT CDT1 TRAPPC2L LOC100289580 PABPN1L CBFA2T3

More Information

• Set Membership: Intragenic, 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