Hs07404719_cn

• Gene Symbol: CBFA2T3
• Assay Reference Genome Location: Chr.16:88940824 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 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	PABPN1L LOC105371409 LOC101927793 TRAPPC2L CBFA2T3 PIEZO1 CDT1 LOC100129697 GALNS LOC107987238 APRT
nsv1066077	Chr.16:88916836 - 89035141 on Build GRCh38	Gain	LOC105371409 CBFA2T3 LOC100129697
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC100289580 LOC339059 PABPN1L LOC101927793 TRAPPC2L CBFA2T3 SLC22A31 CDH15 MIR4722 LOC400558 GALNS ZNF778 LOC105371409 ACSF3 PIEZO1 CDT1 LOC100129697 LOC107987238 APRT CTU2 LINC00304
nsv573719	Chr.16:88933306 - 88957164 on Build GRCh38	Loss	CBFA2T3 LOC100129697
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	PABPN1L LOC101927793 TRAPPC2L CBFA2T3 SLC22A31 CDH15 LOC400558 GALNS LOC105371409 ACSF3 CDT1 LOC100129697 LOC107987238 APRT LINC00304
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC100289580 LOC339059 PABPN1L LOC101927793 TRAPPC2L CBFA2T3 SLC22A31 CDH15 LOC400558 GALNS ZNF778 ANKRD11 LOC105371409 ACSF3 PIEZO1 CDT1 LOC100287036 LOC100129697 LOC107987238 APRT LOC105371414 LINC00304
nsv1071313	Chr.16:88939991 - 88941892 on Build GRCh38	Deletion	CBFA2T3 LOC100129697
nsv521217	Chr.16:88805821 - 89174375 on Build GRCh38	Loss	PABPN1L LOC101927793 TRAPPC2L CBFA2T3 CDH15 LOC400558 GALNS LOC105371409 ACSF3 CDT1 LOC100129697 LOC107987238 APRT LINC00304
nsv952071	Chr.16:88790893 - 89019992 on Build GRCh38	Deletion	PABPN1L LOC105371409 LOC101927793 TRAPPC2L CBFA2T3 CDT1 LOC100129697 GALNS LOC107987238 APRT
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	RNF166 DBNDD1 LOC101927793 LOC101927817 TRAPPC2L MVD SPG7 GALNS ZNF778 ACSF3 VPS9D1-AS1 SPIRE2 LOC100287036 ZNF276 LOC100129697 LOC107987238 CTU2 SPATA33 VPS9D1 CPNE7 LOC105371419 AFG3L1P MIR4722 DEF8 ANKRD11 MC1R SNAI3-AS1 TUBB3 LINC00304 LOC339059 DPEP1 TUBB8P7 PABPN1L FAM157C CENPBD1 SLC22A31 LOC400558 CHMP1A LOC105371409 RPL13 PRDM7 LOC100289580 CDK10 TCF25 CBFA2T3 SNORD68 CDH15 LOC107984817 FANCA CYBA IL17C SPATA2L PIEZO1 GAS8-AS1 CDT1 GAS8 URAHP APRT SNAI3 LOC105371414
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	LOC100289580 LOC339059 PABPN1L LOC101927793 TRAPPC2L CBFA2T3 MIR4722 GALNS LOC105371409 PIEZO1 CDT1 LOC100129697 LOC107987238 APRT CTU2

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