Hs07401999_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88942512 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	PIEZO1 APRT LOC101927793 LOC105371409 LOC107987238 GALNS CBFA2T3 CDT1 LOC100129697 TRAPPC2L PABPN1L
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	APRT LOC400558 ACSF3 LOC107987238 GALNS ZNF778 MIR4722 CDH15 CTU2 CDT1 LOC100129697 TRAPPC2L PABPN1L LOC339059 PIEZO1 LOC101927793 LINC00304 LOC100289580 LOC105371409 CBFA2T3 SLC22A31
nsv1066077	Chr.16:88916836 - 89035141 on Build GRCh38	Gain	LOC105371409 CBFA2T3 LOC100129697
nsv573719	Chr.16:88933306 - 88957164 on Build GRCh38	Loss	CBFA2T3 LOC100129697
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	APRT LOC400558 ACSF3 LOC107987238 GALNS CDH15 CDT1 LOC100129697 TRAPPC2L PABPN1L LOC101927793 LINC00304 LOC105371409 CBFA2T3 SLC22A31
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	ANKRD11 LOC105371414 APRT LOC400558 ACSF3 LOC107987238 GALNS ZNF778 CDH15 CDT1 LOC100129697 TRAPPC2L PABPN1L LOC339059 PIEZO1 LOC101927793 LINC00304 LOC100289580 LOC105371409 CBFA2T3 LOC100287036 SLC22A31
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	APRT LOC101927793 LOC105371409 LOC107987238 GALNS CBFA2T3 CDT1 LOC100129697 TRAPPC2L PABPN1L
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	APRT LOC400558 ACSF3 LOC107987238 GALNS CDH15 CDT1 LOC100129697 TRAPPC2L PABPN1L LOC101927793 LINC00304 LOC105371409 CBFA2T3
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	APRT MC1R CPNE7 DEF8 FAM157C CDT1 LOC339059 PIEZO1 LOC101927793 LOC107984817 IL17C LOC101927817 LOC100287036 RPL13 CENPBD1 ACSF3 GAS8 SPATA33 CTU2 PABPN1L SNAI3-AS1 CHMP1A PRDM7 GAS8-AS1 LINC00304 LOC100289580 TCF25 URAHP ANKRD11 LOC105371414 VPS9D1 LOC400558 SPIRE2 CYBA SNORD68 DPEP1 LOC105371419 LOC100129697 TUBB8P7 FANCA LOC105371409 DBNDD1 CBFA2T3 CDK10 SPATA2L AFG3L1P ZNF276 VPS9D1-AS1 LOC107987238 GALNS ZNF778 RNF166 MIR4722 CDH15 TUBB3 TRAPPC2L SNAI3 SPG7 MVD SLC22A31
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	APRT LOC107987238 GALNS MIR4722 CTU2 CDT1 LOC100129697 TRAPPC2L PABPN1L LOC339059 PIEZO1 LOC101927793 LOC100289580 LOC105371409 CBFA2T3

More Information

Additional Information:

For this assay, SNP(s) [rs181620981,rs74683428] 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