Hs02140285_cn

• Gene Symbol: LOC101927051
• Assay Reference Genome Location: Chr.22:37655950 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 Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SH3BP1	NM_018957.3	18	2483	NP_061830.3
	AK124370.1			BAC85842.1
	AK126556.1			BAC86592.1
	AL157480.1	7	1307	CAB75671.2
	AW452539.1	1	110
	BC008282.1	16	2276	AAH08282.1

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

More Information

• Set Membership: Intragenic, Exonic, 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