Hs02179442_cn

• Gene Symbol: SH3BP1
• Assay Reference Genome Location: Chr.22:37641417 on build GRCh38
• Cytoband: 22q13.1

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 Intron 2 - Exon 3

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

More Information

Additional Information:

For this assay, SNP(s) [rs114686391] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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