Hs03938920_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88888298 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	CDT1 TRAPPC2L LOC107987238 GALNS APRT LOC100129697 PIEZO1 LOC101927793 LOC105371409 PABPN1L CBFA2T3
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC100289580 LINC00304 ZNF778 SLC22A31 TRAPPC2L MIR4722 LOC339059 APRT LOC100129697 LOC105371409 PABPN1L LOC400558 CDT1 CDH15 LOC107987238 CTU2 GALNS PIEZO1 LOC101927793 CBFA2T3 ACSF3
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	LOC101927793 PABPN1L CBFA2T3
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	LINC00304 SLC22A31 TRAPPC2L APRT LOC100129697 LOC105371409 PABPN1L LOC400558 CDT1 CDH15 LOC107987238 GALNS LOC101927793 CBFA2T3 ACSF3
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC100289580 LINC00304 ZNF778 SLC22A31 TRAPPC2L LOC339059 APRT LOC100129697 LOC105371409 PABPN1L LOC400558 LOC100287036 CDT1 CDH15 LOC107987238 GALNS PIEZO1 LOC105371414 LOC101927793 ANKRD11 CBFA2T3 ACSF3
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	CDT1 TRAPPC2L LOC107987238 GALNS APRT PIEZO1 LOC101927793 PABPN1L CBFA2T3
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	LINC00304 TRAPPC2L APRT LOC100129697 LOC105371409 PABPN1L LOC400558 CDT1 CDH15 LOC107987238 GALNS LOC101927793 CBFA2T3 ACSF3
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	CDT1 TRAPPC2L LOC107987238 GALNS APRT LOC100129697 LOC101927793 LOC105371409 PABPN1L CBFA2T3
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CHMP1A SLC22A31 LOC105371419 SPATA2L APRT SNAI3-AS1 AFG3L1P MVD DBNDD1 PABPN1L TUBB3 LOC100287036 URAHP GALNS VPS9D1-AS1 FANCA LOC105371414 ANKRD11 RPL13 TRAPPC2L MIR4722 VPS9D1 SPATA33 LOC105371409 FAM157C SPG7 LOC107987238 CBFA2T3 LOC107984817 LINC00304 ZNF778 TUBB8P7 LOC339059 LOC100129697 GAS8-AS1 CPNE7 LOC101927817 DPEP1 CDT1 CDH15 CTU2 ZNF276 TCF25 CYBA SNAI3 LOC100289580 PRDM7 CDK10 MC1R DEF8 LOC400558 RNF166 SNORD68 CENPBD1 PIEZO1 LOC101927793 SPIRE2 GAS8 IL17C ACSF3
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	LOC100289580 TRAPPC2L MIR4722 LOC339059 APRT PABPN1L CDT1 LOC107987238 CTU2 GALNS PIEZO1 LOC101927793 CBFA2T3

More Information

Additional Information:

For this assay, SNP(s) [rs149166340] 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