Hs01156230_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88875011 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	4216	NP_005178.4
	NM_175931.2	11	3882	NP_787127.1
	XM_005256323.4	11	4194	XP_005256380.1
	AB010419.1	12	4085	BAA29061.1
	AB010420.1	11	3882	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	APRT CBFA2T3 CDT1 CTU2 LOC339059 LOC107987238 ACSF3 LOC100129697 LINC00304 LOC105371409 LOC100289580 PABPN1L ZNF778 MIR4722 PIEZO1 LOC101927793 LOC400558 SLC22A31 CDH15 TRAPPC2L GALNS
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	CBFA2T3 PABPN1L LOC101927793
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	APRT CBFA2T3 CDT1 LOC107987238 ACSF3 LOC100129697 LINC00304 LOC105371409 PABPN1L LOC101927793 LOC400558 SLC22A31 CDH15 TRAPPC2L GALNS
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	ANKRD11 APRT CBFA2T3 LOC100287036 CDT1 LOC105371414 LOC339059 LOC107987238 ACSF3 LOC100129697 LINC00304 LOC105371409 LOC100289580 PABPN1L ZNF778 PIEZO1 LOC101927793 LOC400558 SLC22A31 CDH15 TRAPPC2L GALNS
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	APRT CBFA2T3 CDT1 LOC107987238 ACSF3 LOC100129697 LINC00304 LOC105371409 PABPN1L LOC101927793 LOC400558 CDH15 TRAPPC2L GALNS
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	LOC105371409 APRT CBFA2T3 PABPN1L CDT1 LOC101927793 LOC107987238 LOC100129697 TRAPPC2L GALNS
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC105371414 MVD LOC107984817 LOC107987238 LOC100129697 LINC00304 PABPN1L MIR4722 SPIRE2 PIEZO1 LOC101927793 LOC105371419 IL17C SNAI3-AS1 APRT CPNE7 CYBA LOC100287036 CDT1 CTU2 SPATA33 GAS8-AS1 SPATA2L MC1R ZNF276 LOC105371409 FAM157C AFG3L1P CHMP1A RPL13 FANCA GALNS ANKRD11 CBFA2T3 TUBB8P7 LOC339059 TUBB3 VPS9D1 SNORD68 LOC100289580 CENPBD1 TCF25 LOC400558 PRDM7 SNAI3 CDH15 VPS9D1-AS1 DBNDD1 ACSF3 URAHP GAS8 DPEP1 SPG7 ZNF778 RNF166 CDK10 SLC22A31 LOC101927817 DEF8 TRAPPC2L
esv2715067	Chr.16:88874922 - 88875370 on Build GRCh38	Deletion	CBFA2T3
dgv37n68	Chr.16:88767460 - 88944903 on Build GRCh38	Loss	LOC105371409 APRT CBFA2T3 PABPN1L CDT1 PIEZO1 LOC101927793 LOC107987238 LOC100129697 TRAPPC2L GALNS
dgv507n67	Chr.16:88874423 - 88876971 on Build GRCh38	Gain	CBFA2T3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	APRT CBFA2T3 PABPN1L CDT1 PIEZO1 LOC101927793 LOC107987238 TRAPPC2L GALNS
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	CBFA2T3 PABPN1L TRAPPC2L GALNS
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	APRT CBFA2T3 CDT1 CTU2 LOC339059 LOC107987238 LOC100289580 PABPN1L MIR4722 PIEZO1 LOC101927793 TRAPPC2L GALNS

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