Hs02733986_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88875833 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	3394	NP_005178.4
	NM_175931.2	11	3060	NP_787127.1
	XM_005256323.4	11	3372	XP_005256380.1
	AB010419.1	12	3263	BAA29061.1
	AB010420.1	11	3060	BAA29062.1
	AK090985.1	3	2072

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