Hs03948281_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88889212 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 Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFA2T3	NM_005187.5			NP_005178.4
	NM_175931.2			NP_787127.1
	XM_005256323.4			XP_005256380.1
	XM_011523419.2			XP_011521721.1
	XM_017023811.1			XP_016879300.1
	AB010419.1			BAA29061.1
	AB010420.1			BAA29062.1
	AK308355.1
	AK314766.1
	BC047019.1
	BC062624.1			AAH62624.1
	BE676580.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs116046814,rs76967273] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-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