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