Hs01856230_cn

• Gene Symbol: DIAPH3
• Assay Reference Genome Location: Chr.13:60013102 on build GRCh38
• Cytoband: 13q21.2

Target Gene Details

• Entrez Gene ID: 81624
• Gene Name: diaphanous related formin 3
• Gene Aliases: AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
• Location: Chr.13:59665583-60163985 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIAPH3	NM_001042517.1			NP_001035982.1
	NM_001258366.1			NP_001245295.1
	NM_001258367.1			NP_001245296.1
	NM_001258368.1			NP_001245297.1
	NM_001258369.1			NP_001245298.1
	NM_001258370.1			NP_001245299.1
	NM_030932.3			NP_112194.2
	XM_006719876.1			XP_006719939.1
	XM_011535258.2			XP_011533560.1
	XM_011535263.2			XP_011533565.1
	XM_011535265.2			XP_011533567.1
	XM_017020789.1			XP_016876278.1
	AB244756.1
	AB244757.1
	AB244758.1
	AK092024.1			BAC03793.1
	AK298509.1
	AK307652.1
	AK316474.1
	AL137718.1			CAB70890.1
	AY750055.1			AAW73254.1
	AY818645.1			AAW78862.1
	BC034952.1			AAH34952.1
	BC048963.1			AAH48963.1
	BC068504.1			AAH68504.1
	BX649186.1			CAE46204.1

Target Gene Details

• Entrez Gene ID: 100874195
• Gene Name: DIAPH3 antisense RNA 1
• Gene Aliases: -
• Location: Chr.13:60012718-60044357 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIAPH3-AS1	NR_046539.2
	NR_109838.1
	BX093461.1
	BX398653.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv561861	Chr.13:59852754 - 60110259 on Build GRCh38	Loss	DIAPH3-AS1 DIAPH3
nsv561862	Chr.13:60009783 - 60049569 on Build GRCh38	Loss	DIAPH3-AS1 DIAPH3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spermatogenesis
actin cytoskeleton organization
cell-cell adhesion

Function(s)

actin binding
Rho GTPase binding
cadherin binding involved in cell-cell adhesion