Hs06435415_cn

• Gene Symbol: USP14
• Assay Reference Genome Location: Chr.18:191982 on build GRCh38
• Cytoband: 18p11.32

Target Gene Details

• Entrez Gene ID: 9097
• Gene Name: ubiquitin specific peptidase 14
• Gene Aliases: TGT
• Location: Chr.18:158483-213739 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP14	NM_001037334.1			NP_001032411.1
	NM_005151.3			NP_005142.1
	AK095516.1
	AK297605.1
	AK315438.1
	BC003556.1			AAH03556.1
	BG717018.1
	BT007183.1			AAP35847.1
	CR976282.1
	U30888.1			AAB60365.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv576227	Chr.18:52933 - 322183 on Build GRCh38	Gain	THOC1 ROCK1P1 USP14 MIR8078 COLEC12
esv3641475	Chr.18:153985 - 282924 on Build GRCh38	Gain	THOC1 USP14
nsv1064150	Chr.18:99036 - 321710 on Build GRCh38	Gain	THOC1 ROCK1P1 USP14 MIR8078 COLEC12
dgv3301n100	Chr.18:11543 - 326679 on Build GRCh38	Gain	THOC1 ROCK1P1 USP14 MIR8078 COLEC12
nsv482935	Chr.18:10001 - 2900002 on Build GRCh38	Loss	THOC1 TYMS LOC101926997 LOC105376854 TYMSOS CLUL1 ADCYAP1 MIR8078 METTL4 LINC00470 NDC80 SMCHD1 COLEC12 CBX3P2 YES1 EMILIN2 LOC388456 ROCK1P1 ENOSF1 USP14 CETN1
dgv3302n100	Chr.18:136228 - 249310 on Build GRCh38	Gain	THOC1 USP14
esv3641473	Chr.18:128077 - 323706 on Build GRCh38	Gain	THOC1 USP14 COLEC12
nsv576228	Chr.18:69836 - 1506323 on Build GRCh38	Loss	THOC1 TYMS LOC105376854 TYMSOS CLUL1 ADCYAP1 MIR8078 LINC00470 COLEC12 YES1 LOC388456 ROCK1P1 ENOSF1 USP14 CETN1
esv3573886	Chr.18:136227 - 218394 on Build GRCh38	Gain	THOC1 USP14

More Information

Additional Information:

For this assay, SNP(s) [rs115281583] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease, protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

ubiquitin-dependent protein catabolic process
chemical synaptic transmission
negative regulation of endopeptidase activity
protein deubiquitination
regulation of chemotaxis
regulation of proteasomal protein catabolic process
negative regulation of ER-associated ubiquitin-dependent protein catabolic process

Function(s)

cysteine-type endopeptidase activity
thiol-dependent ubiquitin-specific protease activity
endopeptidase inhibitor activity
protein binding
tRNA guanylyltransferase activity
proteasome binding