Hs01027805_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88876027 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	3200	NP_005178.4
	NM_175931.2	11	2866	NP_787127.1
	XM_005256323.4	11	3178	XP_005256380.1
	AB010419.1	12	3069	BAA29061.1
	AB010420.1	11	2866	BAA29062.1
	AK090985.1	3	1878

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	LOC105371409 APRT PIEZO1 GALNS PABPN1L LOC101927793 LOC107987238 LOC100129697 CDT1 CBFA2T3 TRAPPC2L
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC105371409 ACSF3 APRT PIEZO1 GALNS PABPN1L LINC00304 MIR4722 LOC100129697 CDT1 CDH15 LOC339059 TRAPPC2L LOC100289580 ZNF778 LOC101927793 LOC107987238 LOC400558 SLC22A31 CBFA2T3 CTU2
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	PABPN1L LOC101927793 CBFA2T3
dgv507n67	Chr.16:88874423 - 88876971 on Build GRCh38	Gain	CBFA2T3
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	LOC105371409 ACSF3 APRT GALNS PABPN1L LINC00304 LOC100129697 CDT1 CDH15 TRAPPC2L LOC101927793 LOC107987238 LOC400558 SLC22A31 CBFA2T3
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC105371409 ACSF3 APRT PIEZO1 GALNS PABPN1L LINC00304 LOC100129697 CDT1 CDH15 LOC339059 TRAPPC2L LOC100289580 ZNF778 LOC100287036 ANKRD11 LOC101927793 LOC107987238 LOC105371414 LOC400558 SLC22A31 CBFA2T3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	APRT PIEZO1 GALNS PABPN1L LOC101927793 LOC107987238 CDT1 CBFA2T3 TRAPPC2L
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	LOC105371409 ACSF3 APRT GALNS PABPN1L LINC00304 LOC100129697 CDT1 CDH15 TRAPPC2L LOC101927793 LOC107987238 LOC400558 CBFA2T3
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	LOC105371409 APRT GALNS PABPN1L LOC101927793 LOC107987238 LOC100129697 CDT1 CBFA2T3 TRAPPC2L
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	PIEZO1 DBNDD1 CDH15 LOC339059 LOC100287036 ANKRD11 LOC101927793 LOC107987238 AFG3L1P URAHP TUBB8P7 CPNE7 DPEP1 LOC100129697 SPIRE2 RPL13 LOC100289580 MVD GAS8 SPG7 LOC105371414 SNORD68 CBFA2T3 LOC105371409 ACSF3 FAM157C APRT CDK10 PABPN1L MC1R LOC107984817 CENPBD1 CYBA ZNF276 SPATA2L ZNF778 SPATA33 SNAI3-AS1 SNAI3 DEF8 LOC101927817 LOC400558 SLC22A31 CHMP1A GALNS FANCA LINC00304 VPS9D1-AS1 GAS8-AS1 MIR4722 CDT1 PRDM7 TRAPPC2L VPS9D1 RNF166 TCF25 IL17C LOC105371419 TUBB3 CTU2
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	GALNS PABPN1L CBFA2T3 TRAPPC2L
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	APRT PIEZO1 GALNS PABPN1L MIR4722 CDT1 LOC339059 TRAPPC2L LOC100289580 LOC101927793 LOC107987238 CBFA2T3 CTU2

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