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	LINC00304 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L GALNS CDH15 ZNF778 CDT1 SLC22A31 LOC101927793 LOC100289580 ACSF3 CTU2 LOC107987238 APRT MIR4722 LOC400558 PIEZO1 LOC339059 LOC100129697
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	CBFA2T3 PABPN1L LOC101927793
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	LINC00304 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L GALNS CDH15 CDT1 SLC22A31 LOC101927793 ACSF3 LOC107987238 APRT LOC400558 LOC100129697
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LINC00304 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L LOC100287036 GALNS CDH15 ZNF778 CDT1 SLC22A31 LOC101927793 LOC100289580 ACSF3 ANKRD11 LOC107987238 APRT LOC400558 PIEZO1 LOC105371414 LOC339059 LOC100129697
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	LINC00304 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L GALNS CDH15 CDT1 LOC101927793 ACSF3 LOC107987238 APRT LOC400558 LOC100129697
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	LOC107987238 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L APRT GALNS CDT1 LOC101927793 LOC100129697
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC100287036 GALNS SLC22A31 LOC101927817 DEF8 ANKRD11 RNF166 LOC107987238 SNORD68 SNAI3 VPS9D1 CHMP1A FANCA SPATA33 APRT MC1R PABPN1L TCF25 LOC101927793 ACSF3 ZNF276 SPATA2L DBNDD1 FAM157C DPEP1 LOC105371414 SNAI3-AS1 MVD LOC105371409 TRAPPC2L CDK10 CPNE7 ZNF778 SPG7 IL17C TUBB3 AFG3L1P GAS8 TUBB8P7 PRDM7 PIEZO1 LOC339059 VPS9D1-AS1 LOC105371419 LINC00304 CBFA2T3 CDH15 LOC107984817 CDT1 RPL13 GAS8-AS1 LOC100289580 CTU2 CYBA URAHP SPIRE2 MIR4722 CENPBD1 LOC400558 LOC100129697
esv2715067	Chr.16:88874922 - 88875370 on Build GRCh38	Deletion	CBFA2T3
dgv37n68	Chr.16:88767460 - 88944903 on Build GRCh38	Loss	LOC107987238 LOC105371409 TRAPPC2L CBFA2T3 PABPN1L APRT GALNS CDT1 PIEZO1 LOC101927793 LOC100129697
dgv507n67	Chr.16:88874423 - 88876971 on Build GRCh38	Gain	CBFA2T3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	LOC107987238 TRAPPC2L CBFA2T3 PABPN1L APRT GALNS CDT1 PIEZO1 LOC101927793
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	TRAPPC2L CBFA2T3 PABPN1L GALNS
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	TRAPPC2L CBFA2T3 PABPN1L GALNS CDT1 LOC101927793 LOC100289580 CTU2 LOC107987238 APRT MIR4722 PIEZO1 LOC339059

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