Hs07402597_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88943409 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFA2T3	NM_005187.5			NP_005178.4
	XM_005256323.4			XP_005256380.1
	XM_011523419.2			XP_011521721.1
	XM_017023811.1			XP_016879300.1
	AB010419.1			BAA29061.1
	AK314766.1
	BC047019.1
	BC062624.1			AAH62624.1
	BP282804.1

Target Gene Details

• Entrez Gene ID: 100129697
• Gene Name: uncharacterized LOC100129697
• Gene Aliases: -
• Location: Chr.16:88940039-88951524 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100129697	NM_001290330.1			NP_001277259.1
	AK130238.1			BAC85311.1
	HY074528.1

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	APRT LOC100129697 GALNS PABPN1L LOC107987238 LOC105371409 CDT1 CBFA2T3 TRAPPC2L PIEZO1 LOC101927793
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	CTU2 PABPN1L LOC107987238 LOC400558 CDT1 ACSF3 TRAPPC2L PIEZO1 LOC101927793 APRT LINC00304 ZNF778 LOC100129697 GALNS LOC100289580 LOC105371409 LOC339059 MIR4722 CBFA2T3 SLC22A31 CDH15
nsv1066077	Chr.16:88916836 - 89035141 on Build GRCh38	Gain	LOC100129697 LOC105371409 CBFA2T3
nsv573719	Chr.16:88933306 - 88957164 on Build GRCh38	Loss	LOC100129697 CBFA2T3
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	PABPN1L LOC107987238 LOC400558 CDT1 ACSF3 TRAPPC2L LOC101927793 APRT LINC00304 LOC100129697 GALNS LOC105371409 CBFA2T3 SLC22A31 CDH15
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC100287036 PABPN1L LOC107987238 LOC400558 CDT1 ANKRD11 ACSF3 TRAPPC2L PIEZO1 LOC101927793 APRT LINC00304 ZNF778 LOC100129697 GALNS LOC100289580 LOC105371409 LOC339059 CBFA2T3 SLC22A31 CDH15 LOC105371414
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	APRT LOC100129697 GALNS PABPN1L LOC107987238 LOC105371409 CDT1 CBFA2T3 TRAPPC2L LOC101927793
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	PABPN1L LOC107987238 LOC400558 CDT1 ACSF3 TRAPPC2L LOC101927793 APRT LINC00304 LOC100129697 GALNS LOC105371409 CBFA2T3 CDH15
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	VPS9D1 LOC100287036 CTU2 TUBB3 SPATA33 CDT1 CYBA CDK10 CDH15 LOC105371419 SPIRE2 PABPN1L ANKRD11 LOC107984817 TRAPPC2L LOC101927817 PIEZO1 TCF25 APRT LINC00304 LOC100129697 URAHP CBFA2T3 MVD IL17C SPATA2L RNF166 FAM157C LOC107987238 CPNE7 CENPBD1 GAS8-AS1 LOC101927793 SPG7 MC1R FANCA ZNF778 GAS8 LOC105371409 MIR4722 LOC105371414 PRDM7 DPEP1 TUBB8P7 AFG3L1P LOC400558 RPL13 CHMP1A SNAI3-AS1 ACSF3 SNAI3 ZNF276 VPS9D1-AS1 GALNS LOC100289580 DEF8 LOC339059 SLC22A31 DBNDD1 SNORD68
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	CTU2 PABPN1L LOC107987238 CDT1 TRAPPC2L PIEZO1 LOC101927793 APRT LOC100129697 GALNS LOC100289580 LOC105371409 LOC339059 MIR4722 CBFA2T3

More Information

Additional Information:

For this assay, SNP(s) [rs114348154,rs115333057] 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