Hs04094200_cn

• Gene Symbol: LOC101927051
• Assay Reference Genome Location: Chr.22:37654707 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 17

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

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