Hs00705140_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88875363 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 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFA2T3	NM_005187.5	12	3864	NP_005178.4
	NM_175931.2	11	3530	NP_787127.1
	XM_005256323.4	11	3842	XP_005256380.1
	AB010419.1	12	3733	BAA29061.1
	AB010420.1	11	3530	BAA29062.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	ZNF778 CDH15 CBFA2T3 GALNS PABPN1L LOC100129697 PIEZO1 LOC400558 LOC105371409 CTU2 LOC107987238 TRAPPC2L CDT1 SLC22A31 LINC00304 LOC100289580 APRT LOC101927793 LOC339059 ACSF3 MIR4722
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	CBFA2T3 PABPN1L LOC101927793
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	CDH15 CBFA2T3 GALNS PABPN1L LOC100129697 LOC400558 LOC105371409 LOC107987238 TRAPPC2L CDT1 SLC22A31 LINC00304 APRT LOC101927793 ACSF3
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	ANKRD11 ZNF778 CDH15 CBFA2T3 GALNS PABPN1L LOC100129697 PIEZO1 LOC400558 LOC105371409 LOC107987238 TRAPPC2L CDT1 LOC100287036 SLC22A31 LOC105371414 LINC00304 LOC100289580 APRT LOC101927793 LOC339059 ACSF3
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	LOC105371409 LOC107987238 TRAPPC2L CDT1 CBFA2T3 GALNS PABPN1L LOC100129697 APRT LOC101927793
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	CDH15 CBFA2T3 GALNS PABPN1L LOC100129697 LOC400558 LOC105371409 LOC107987238 TRAPPC2L CDT1 LINC00304 APRT LOC101927793 ACSF3
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	DPEP1 CHMP1A SPIRE2 CTU2 CENPBD1 SNAI3-AS1 LOC107987238 SPATA2L LOC100289580 LOC101927793 CDK10 SPG7 DEF8 DBNDD1 CYBA CPNE7 LOC101927817 SNAI3 VPS9D1-AS1 MC1R TRAPPC2L SNORD68 SLC22A31 LOC339059 URAHP LOC105371419 ANKRD11 ZNF778 CBFA2T3 GALNS PABPN1L LOC100129697 LOC400558 ZNF276 CDT1 LOC100287036 LOC105371414 LINC00304 FAM157C IL17C PRDM7 CDH15 TCF25 GAS8-AS1 RPL13 PIEZO1 LOC107984817 VPS9D1 TUBB8P7 TUBB3 MVD LOC105371409 AFG3L1P SPATA33 APRT FANCA RNF166 GAS8 ACSF3 MIR4722
dgv37n68	Chr.16:88767460 - 88944903 on Build GRCh38	Loss	LOC105371409 LOC107987238 TRAPPC2L CDT1 CBFA2T3 GALNS PABPN1L LOC100129697 PIEZO1 APRT LOC101927793
esv2715067	Chr.16:88874922 - 88875370 on Build GRCh38	Deletion	CBFA2T3
dgv507n67	Chr.16:88874423 - 88876971 on Build GRCh38	Gain	CBFA2T3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	LOC107987238 TRAPPC2L CDT1 CBFA2T3 GALNS PABPN1L PIEZO1 APRT LOC101927793
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	TRAPPC2L CBFA2T3 GALNS PABPN1L
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	CBFA2T3 GALNS PABPN1L LOC100129697 PIEZO1 LOC105371409 CTU2 LOC107987238 TRAPPC2L CDT1 LOC100289580 APRT LOC101927793 LOC339059 MIR4722

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