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

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