Hs04079691_cn

• Gene Symbol: LOC101927051
• Assay Reference Genome Location: Chr.22:37651731 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 1

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 16

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

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