Hs07401058_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88940244 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 2

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
	AK308355.1
	AK314766.1
	BC047019.1
	BC062624.1			AAH62624.1
	BE676580.1
	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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100129697	NM_001290330.1	1	206	NP_001277259.1
	AK130238.1	1	104	BAC85311.1
	HY074528.1	1	206

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 GALNS CDT1 CBFA2T3 LOC107987238 PABPN1L LOC105371409 LOC101927793 PIEZO1 TRAPPC2L LOC100129697
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC100289580 GALNS CDT1 PABPN1L CTU2 SLC22A31 ZNF778 LOC101927793 PIEZO1 LOC400558 APRT MIR4722 CBFA2T3 LOC107987238 ACSF3 LOC105371409 CDH15 TRAPPC2L LOC339059 LOC100129697 LINC00304
nsv1066077	Chr.16:88916836 - 89035141 on Build GRCh38	Gain	CBFA2T3 LOC105371409 LOC100129697
nsv573719	Chr.16:88933306 - 88957164 on Build GRCh38	Loss	CBFA2T3 LOC100129697
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	GALNS CDT1 PABPN1L SLC22A31 LOC101927793 LOC400558 APRT CBFA2T3 LOC107987238 ACSF3 LOC105371409 CDH15 TRAPPC2L LOC100129697 LINC00304
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC100289580 GALNS CDT1 LOC105371414 PABPN1L SLC22A31 ZNF778 LOC101927793 LOC100287036 PIEZO1 LOC400558 APRT CBFA2T3 LOC107987238 ACSF3 LOC105371409 ANKRD11 CDH15 TRAPPC2L LOC339059 LOC100129697 LINC00304
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	APRT GALNS CDT1 CBFA2T3 LOC107987238 PABPN1L LOC105371409 LOC101927793 TRAPPC2L LOC100129697
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	GALNS CDT1 PABPN1L LOC101927793 LOC400558 APRT CBFA2T3 LOC107987238 ACSF3 LOC105371409 CDH15 TRAPPC2L LOC100129697 LINC00304
nsv1071313	Chr.16:88939991 - 88941892 on Build GRCh38	Deletion	CBFA2T3 LOC100129697
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	SPG7 RNF166 GALNS LOC105371414 SPATA2L SPIRE2 DPEP1 MIR4722 VPS9D1 TUBB3 FANCA CYBA CDH15 LOC100129697 DEF8 LOC100289580 CDT1 FAM157C CTU2 LOC101927793 GAS8 LOC400558 APRT CBFA2T3 LOC107987238 ACSF3 CPNE7 LOC105371409 LOC105371419 TRAPPC2L LOC339059 LINC00304 VPS9D1-AS1 SNAI3-AS1 PRDM7 SPATA33 SLC22A31 GAS8-AS1 LOC100287036 URAHP LOC107984817 CDK10 MVD RPL13 ANKRD11 CENPBD1 CHMP1A DBNDD1 AFG3L1P PABPN1L ZNF778 PIEZO1 TCF25 LOC101927817 MC1R IL17C TUBB8P7 SNAI3 SNORD68 ZNF276
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	LOC100289580 GALNS CDT1 PABPN1L CTU2 LOC101927793 PIEZO1 APRT MIR4722 CBFA2T3 LOC107987238 LOC105371409 TRAPPC2L LOC339059 LOC100129697

More Information

• Set Membership: Intragenic, Exonic, 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