Hs03931415_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88881987 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 9

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
	AF052220.1			AAC64698.1
	AK308355.1
	AK314766.1
	BC047019.1
	BC062624.1			AAH62624.1

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	GALNS LOC101927793 APRT CBFA2T3 TRAPPC2L LOC107987238 LOC105371409 PIEZO1 PABPN1L CDT1 LOC100129697
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	GALNS APRT LOC339059 LINC00304 SLC22A31 CBFA2T3 TRAPPC2L LOC107987238 LOC400558 LOC105371409 PIEZO1 CTU2 MIR4722 LOC100129697 LOC101927793 CDH15 LOC100289580 ACSF3 PABPN1L CDT1 ZNF778
nsv1928	Chr.16:88865211 - 88897277 on Build GRCh38	Insertion	LOC101927793 CBFA2T3 PABPN1L
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	GALNS APRT LINC00304 SLC22A31 CBFA2T3 TRAPPC2L LOC107987238 LOC400558 LOC105371409 LOC100129697 LOC101927793 CDH15 ACSF3 PABPN1L CDT1
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	GALNS APRT LOC339059 ANKRD11 LOC100287036 LINC00304 LOC105371414 SLC22A31 CBFA2T3 TRAPPC2L LOC107987238 LOC400558 LOC105371409 PIEZO1 LOC100129697 LOC101927793 CDH15 LOC100289580 ACSF3 PABPN1L CDT1 ZNF778
esv3639555	Chr.16:88745961 - 88899576 on Build GRCh38	Gain	GALNS LOC101927793 APRT CBFA2T3 TRAPPC2L LOC107987238 PIEZO1 PABPN1L CDT1
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	GALNS LOC101927793 APRT CBFA2T3 TRAPPC2L LOC107987238 LOC105371409 PABPN1L CDT1 LOC100129697
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	GALNS APRT LINC00304 CBFA2T3 TRAPPC2L LOC107987238 LOC400558 LOC105371409 LOC100129697 LOC101927793 CDH15 ACSF3 PABPN1L CDT1
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	GALNS APRT CHMP1A SPIRE2 LOC107987238 LOC105371409 MIR4722 CYBA RPL13 TUBB3 URAHP ACSF3 DEF8 DPEP1 LOC100287036 SNAI3 VPS9D1-AS1 PIEZO1 CTU2 CPNE7 MVD FAM157C VPS9D1 SNORD68 CDK10 SPG7 SNAI3-AS1 LOC339059 ANKRD11 LINC00304 LOC105371414 LOC101927817 LOC107984817 TRAPPC2L FANCA MC1R GAS8 RNF166 TCF25 LOC105371419 LOC100289580 CENPBD1 CDT1 SPATA2L ZNF778 GAS8-AS1 SLC22A31 AFG3L1P CBFA2T3 LOC400558 LOC100129697 PRDM7 ZNF276 SPATA33 LOC101927793 CDH15 DBNDD1 IL17C PABPN1L TUBB8P7
esv3639561	Chr.16:88837996 - 88882065 on Build GRCh38	Gain	GALNS CBFA2T3 TRAPPC2L PABPN1L
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	GALNS APRT LOC339059 CBFA2T3 TRAPPC2L LOC107987238 PIEZO1 CTU2 MIR4722 LOC101927793 LOC100289580 PABPN1L CDT1

More Information

• 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