Hs00709653_cn

• Gene Symbol: DIAPH1
• Assay Reference Genome Location: Chr.5:141526086 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 1729
• Gene Name: diaphanous related formin 1
• Gene Aliases: DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1
• Location: Chr.5:141515021-141619055 on Build GRCh38
• Assay Gene Location: Overlaps Intron 28 - Exon 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIAPH1	NM_001079812.2			NP_001073280.1
	NM_001314007.1			NP_001300936.1
	NM_005219.4			NP_005210.3
	XM_011537572.2			XP_011535874.1
	XM_011537573.2			XP_011535875.1
	AB209482.1			BAD92719.1
	AF051782.1			AAC05373.1
	AK057994.1
	AK301195.1
	AY363395.1			AAQ63049.1
	BC007411.2			AAH07411.2
	BC117257.1
	BC143413.1
	BT007318.1			AAP35982.1
	DQ067453.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv25744	Chr.5:141488549 - 141529732 on Build GRCh38	Gain	PCDHGA1 PCDHGA3 PCDHGA10 PCDHGA6 PCDHGA4 PCDHGB2 PCDHGA2 PCDHGC5 PCDHGA9 PCDHGB6 PCDHGB4 DIAPH1 PCDHGB5 PCDHGC3 PCDHGB7 PCDHGA7 PCDHGA5 PCDHGA11 PCDHGA12 PCDHGB3 PCDHGC4 PCDHGA8 PCDHGB1

More Information

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

Gene Ontology Categories:

Process(es)

cytoskeleton organization
sensory perception of sound
regulation of cell shape
actin filament polymerization
positive regulation of cell migration
regulation of microtubule-based process
protein localization to microtubule
regulation of release of sequestered calcium ion into cytosol
cellular response to histamine
regulation of cell motility

Function(s)

actin binding
receptor binding
protein binding
Rho GTPase binding
ion channel binding
poly(A) RNA binding