Hs01847456_cn

• Gene Symbol: UBAC1
• Assay Reference Genome Location: Chr.9:135933332 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 10422
• Gene Name: UBA domain containing 1
• Gene Aliases: GBDR1, UBADC1
• Location: Chr.9:135932969-135961380 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBAC1	NM_016172.2	10	1504	NP_057256.2
	AF038200.1	9	1069
	AF068195.1	9	1131	AAC21559.1
	AF176796.1	10	1474	AAD51084.1
	BC004967.1	10	1504	AAH04967.1
	BC011822.1	10	1330	AAH11822.1
	BX647463.1	3	5557

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv12995n54	Chr.9:135903671 - 135992854 on Build GRCh38	Loss	UBAC1 CAMSAP1
nsv831757	Chr.9:135885814 - 136184089 on Build GRCh38	Loss	NACC2 LOC107987142 LOC105376323 UBAC1 CAMSAP1 C9orf69
dgv7728n100	Chr.9:135864526 - 135949196 on Build GRCh38	Gain	UBAC1 CAMSAP1
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	DKFZP434A062 LOC101928722 INPP5E LOC107987142 LOC105376323 SDCCAG3 UBAC1 DNLZ QSOX2 NOTCH1 SEC16A NACC2 LHX3 ESP33 CARD9 SNAPC4 PMPCA C9orf163 CAMSAP1 C9orf69 CCDC187 GPSM1
nsv615928	Chr.9:135885466 - 136002028 on Build GRCh38	Gain	UBAC1 CAMSAP1
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	NALT1 LOC107987142 LOC105376323 UBAC1 DNLZ QSOX2 NOTCH1 SEC16A MIR4674 NACC2 LHX3 CARD9 SNAPC4 KCNT1 C9orf163 CAMSAP1 C9orf69 CCDC187 DKFZP434A062 LOC101928722 INPP5E SDCCAG3 MIR4673 ESP33 PMPCA GPSM1

More Information

Additional Information:

For this assay, SNP(s) [rs151159711] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein ubiquitination

Function(s)

protein binding