Hs03630964_cn

• Gene Symbol: ARHGEF5
• Assay Reference Genome Location: Chr.7:144377322 on build GRCh38
• Cytoband: 7q35

Target Gene Details

• Entrez Gene ID: 7984
• Gene Name: Rho guanine nucleotide exchange factor 5
• Gene Aliases: GEF5, P60, TIM, TIM1
• Location: Chr.7:144355341-144380632 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGEF5	NM_005435.3			NP_005426.2
	AK090570.1
	AK123596.1
	AK160365.1
	BC010046.2			AAH10046.1
	BC011839.2			AAH11839.1
	BC014555.2			AAH14555.1
	BC136661.1
	BX649178.1
	U02082.1			AAA18010.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3418468	Chr.7:144355326 - 144377324 on Build GRCh38	Duplication	ARHGEF5 OR2A1-AS1
dgv6735n100	Chr.7:144199147 - 144416681 on Build GRCh38	Gain	ARHGEF5 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P NOBOX OR2A1 CTAGE8 OR2A42 OR2A20P OR2A9P
dgv6726n100	Chr.7:144164657 - 144377836 on Build GRCh38	Gain	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
dgv6744n100	Chr.7:144255208 - 144378798 on Build GRCh38	Loss	ARHGEF5 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A9P
nsv831177	Chr.7:144337172 - 144511612 on Build GRCh38	Loss	ARHGEF5 TPK1 OR2A1-AS1 NOBOX
esv2759570	Chr.7:143450682 - 144671545 on Build GRCh38	Gain+Loss	ARHGEF5 ARHGEF35 TPK1 OR2A7 TAS2R41 CTAGE6 OR2A5 TCAF1 LOC101928422 OR2A14 LOC101928605 ARHGEF34P OR2A25 OR2A2 OR2A20P CTAGE4 TCAF2P1 OR2A1-AS1 NOBOX OR2A1 OR2A42 OR2F1 OR2A12 TCAF2 OR2A9P EPHA1-AS1 OR2F2 CTAGE8 CTAGE15 LOC154761 OR6B1
nsv608885	Chr.7:144338528 - 144393280 on Build GRCh38	Loss	ARHGEF5 OR2A1-AS1
dgv11668n54	Chr.7:144190093 - 144379671 on Build GRCh38	Gain	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P OR2A9P
dgv24n31	Chr.7:144178592 - 144377286 on Build GRCh38	Gain	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
dgv11685n54	Chr.7:144280907 - 144377836 on Build GRCh38	Loss	ARHGEF5 LOC101928605 OR2A1-AS1 ARHGEF34P OR2A1 OR2A9P
nsv981602	Chr.7:144353567 - 144377352 on Build GRCh38	Duplication	ARHGEF5 OR2A1-AS1
nsv482117	Chr.7:144355396 - 144380631 on Build GRCh38	Gain	ARHGEF5 OR2A1-AS1
dgv3982e59	Chr.7:144364126 - 144377324 on Build GRCh38	Duplication	ARHGEF5
dgv253n111	Chr.7:144176859 - 144377836 on Build GRCh38	Duplication	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
esv24292	Chr.7:144180383 - 144377933 on Build GRCh38	Gain+Loss	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
nsv824360	Chr.7:144178555 - 144377933 on Build GRCh38	Gain	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
dgv6745n100	Chr.7:144273205 - 144416681 on Build GRCh38	Loss	ARHGEF5 LOC101928605 OR2A1-AS1 ARHGEF34P NOBOX OR2A1 OR2A9P
esv3350828	Chr.7:144339326 - 144377324 on Build GRCh38	Duplication	ARHGEF5 OR2A1-AS1
esv3432947	Chr.7:144190126 - 144377324 on Build GRCh38	Duplication	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P OR2A9P
dgv152e203	Chr.7:144173412 - 144392386 on Build GRCh38	Gain+Loss	ARHGEF5 ARHGEF35 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P CTAGE4 OR2A9P
nsv515042	Chr.7:144350870 - 144380582 on Build GRCh38	Gain	ARHGEF5 OR2A1-AS1
nsv8227	Chr.7:143519748 - 144378447 on Build GRCh38	Gain+Loss	ARHGEF5 ARHGEF35 OR2A7 CTAGE6 OR2A5 TCAF1 LOC101928422 OR2A14 LOC101928605 ARHGEF34P OR2A25 OR2A2 OR2A20P CTAGE4 TCAF2P1 OR2A1-AS1 OR2A1 OR2A42 OR2F1 OR2A12 TCAF2 OR2A9P EPHA1-AS1 OR2F2 CTAGE8 CTAGE15 LOC154761 OR6B1
dgv255n111	Chr.7:144231199 - 144377836 on Build GRCh38	Deletion	ARHGEF5 LOC101928605 OR2A1-AS1 OR2A7 ARHGEF34P OR2A1 CTAGE8 OR2A42 OR2A20P OR2A9P

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

myeloid dendritic cell chemotaxis
actin cytoskeleton organization
regulation of actin cytoskeleton organization
regulation of Rho protein signal transduction
intracellular signal transduction
regulation of GTPase activity
positive regulation of JUN kinase activity
positive regulation of GTPase activity
positive regulation of sequence-specific DNA binding transcription factor activity
regulation of cytoskeleton organization
positive regulation of stress fiber assembly
regulation of ERK1 and ERK2 cascade
positive regulation of podosome assembly
positive regulation of protein import

Function(s)

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity
protein binding
GTP binding
lipid binding