Hs03953174_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88881145 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: Overlaps Intron 10 - Exon 11

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
	XM_017023811.1			XP_016879300.1
	AB010419.1			BAA29061.1
	AB010420.1			BAA29062.1
	AK090985.1
	AK308355.1
	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 CBFA2T3 GALNS LOC107987238 LOC101927793 CDT1 APRT TRAPPC2L LOC100129697 PABPN1L LOC105371409
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	MIR4722 SLC22A31 PIEZO1 GALNS LOC107987238 CDH15 LOC400558 APRT LINC00304 CTU2 LOC105371409 LOC100289580 CBFA2T3 LOC101927793 CDT1 TRAPPC2L ZNF778 LOC100129697 LOC339059 PABPN1L ACSF3
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	CBFA2T3 LOC101927793 PABPN1L
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	SLC22A31 GALNS LOC107987238 CDH15 LOC400558 APRT LINC00304 LOC105371409 CBFA2T3 LOC101927793 CDT1 TRAPPC2L LOC100129697 PABPN1L ACSF3
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC105371414 SLC22A31 PIEZO1 GALNS LOC107987238 CDH15 LOC400558 APRT ANKRD11 LOC100287036 LINC00304 LOC105371409 LOC100289580 CBFA2T3 LOC101927793 CDT1 TRAPPC2L ZNF778 LOC100129697 LOC339059 PABPN1L ACSF3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	PIEZO1 CBFA2T3 GALNS LOC107987238 LOC101927793 CDT1 APRT TRAPPC2L PABPN1L
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	CBFA2T3 GALNS LOC107987238 LOC101927793 CDT1 APRT TRAPPC2L LOC100129697 PABPN1L LOC105371409
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	GALNS LOC107987238 CDH15 LOC400558 APRT LINC00304 LOC105371409 CBFA2T3 LOC101927793 CDT1 TRAPPC2L LOC100129697 PABPN1L ACSF3
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC105371414 PRDM7 SNAI3 PIEZO1 SPATA2L GAS8 LINC00304 RNF166 VPS9D1-AS1 ZNF778 SNORD68 LOC339059 ACSF3 TUBB3 GAS8-AS1 ANKRD11 DBNDD1 TCF25 CTU2 LOC100289580 CHMP1A CBFA2T3 SPG7 URAHP CDT1 TRAPPC2L LOC100129697 MC1R VPS9D1 LOC101927817 FANCA MVD CDK10 IL17C LOC400558 APRT LOC100287036 LOC105371409 TUBB8P7 SPIRE2 CPNE7 CYBA PABPN1L ZNF276 SNAI3-AS1 MIR4722 SLC22A31 SPATA33 RPL13 GALNS CENPBD1 FAM157C LOC107987238 CDH15 LOC107984817 DEF8 LOC105371419 LOC101927793 AFG3L1P DPEP1
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	CBFA2T3 GALNS TRAPPC2L PABPN1L
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	MIR4722 PIEZO1 GALNS LOC107987238 APRT CTU2 LOC105371409 LOC100289580 CBFA2T3 LOC101927793 CDT1 TRAPPC2L LOC100129697 LOC339059 PABPN1L

More Information

• Set Membership: Intragenic, 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