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

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