Hs02427218_cn

• Gene Symbol: LOC101927051
• Assay Reference Genome Location: Chr.22:37643775 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: Overlaps Intron 4 - Exon 5

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: Overlaps Exon 7 - Intron 7

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

More Information

• Set Membership: Intragenic, 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