Hs04504734_cn

• Gene Symbol: LOC101927051
• Assay Reference Genome Location: Chr.22:37647596 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 101927051
• Gene Name: uncharacterized LOC101927051
• Gene Aliases: -
• Location: Chr.22:37641832-37658377 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101927051	NR_109952.1
	AK097791.1

Target Gene Details

• Entrez Gene ID: 23616
• Gene Name: SH3 domain binding protein 1
• Gene Aliases: ARHGAP43
• Location: Chr.22:37639677-37656043 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SH3BP1	NM_018957.3			NP_061830.3
	AK124370.1			BAC85842.1
	AK126556.1			BAC86592.1
	AK301163.1
	AL157480.1			CAB75671.2
	AY364241.1			AAQ76800.1
	BC008282.1			AAH08282.1
	CR456576.1			CAG30462.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829203	Chr.22:36998126 - 37773322 on Build GRCh38	Loss	CARD10 SH3BP1 MFNG SSTR3 ELFN2 LOC101927051 RAC2 IL2RB KCTD17 NOL12 LGALS2 GGA1 MPST PDXP CYTH4 TEX33 CDC42EP1 TST LOC102724378 LOC100506271 LGALS1 C1QTNF6 TMPRSS6 TRIOBP
esv2758838	Chr.22:37607870 - 37869871 on Build GRCh38	Loss	SH3BP1 GALR3 GCAT LOC101927051 ANKRD54 NOL12 EIF3L H1F0 GGA1 MIR658 PDXP LOC102724378 LGALS1 MIR659 TRIOBP
nsv589006	Chr.22:37642053 - 37658606 on Build GRCh38	Loss	SH3BP1 LOC101927051
nsv471197	Chr.22:37600773 - 37762734 on Build GRCh38	Loss	SH3BP1 NOL12 GGA1 PDXP LOC102724378 LGALS1 LOC101927051 TRIOBP
nsv834191	Chr.22:37533773 - 37717344 on Build GRCh38	Loss	SH3BP1 NOL12 LGALS2 GGA1 PDXP CDC42EP1 LGALS1 LOC101927051 TRIOBP
nsv1057617	Chr.22:37462633 - 37713698 on Build GRCh38	Gain	CARD10 SH3BP1 MFNG NOL12 LGALS2 GGA1 PDXP CDC42EP1 LGALS1 LOC101927051 TRIOBP

More Information

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

Gene Ontology Categories:

Process(es)

signal transduction
positive regulation of GTPase activity

Function(s)

GTPase activator activity
protein binding
SH3 domain binding