Hs01941253_cn

• Gene Symbol: UBAC1
• Assay Reference Genome Location: Chr.9:135939756 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: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBAC1	NM_016172.2			NP_057256.2
	AF038200.1
	AF068195.1			AAC21559.1
	AF176796.1			AAD51084.1
	BC004967.1			AAH04967.1
	BC011822.1			AAH11822.1
	BX647463.1	1	5151

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

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein ubiquitination

Function(s)

protein binding