Hs05762754_cn

• Gene Symbol: TBCE
• Assay Reference Genome Location: Chr.1:235409458 on build GRCh38
• Cytoband: 1q42.3

Target Gene Details

• Entrez Gene ID: 6905
• Gene Name: tubulin folding cofactor E
• Gene Aliases: HRD, KCS, KCS1, pac2
• Location: Chr.1:235367360-235448968 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCE	NM_001079515.2			NP_001072983.1
	NM_001287801.1			NP_001274730.1
	NM_001287802.1			NP_001274731.1
	NM_003193.4			NP_003184.1
	AK093397.1
	AK292287.1
	AK296185.1
	AK298050.1
	BC008654.1			AAH08654.1
	BT007086.1			AAP35749.1
	CB110473.1
	DA418943.1
	DA981183.1
	U61232.1			AAB17538.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1013571	Chr.1:235210731 - 235587805 on Build GRCh38	Gain	GNG4 GGPS1 B3GALNT2 ARID4B TBCE
dgv30n21	Chr.1:235198002 - 235605078 on Build GRCh38	Gain	GNG4 GGPS1 B3GALNT2 ARID4B TBCE
nsv509668	Chr.1:235406099 - 235430910 on Build GRCh38	Insertion	TBCE
nsv4954	Chr.1:235408845 - 235432924 on Build GRCh38	Insertion	TBCE
esv3575794	Chr.1:235370375 - 235549222 on Build GRCh38	Gain	GNG4 B3GALNT2 TBCE
nsv549392	Chr.1:235375705 - 235548388 on Build GRCh38	Gain	GNG4 B3GALNT2 TBCE
nsv1011288	Chr.1:235376656 - 235666302 on Build GRCh38	Gain	GNG4 LYST B3GALNT2 TBCE
nsv468406	Chr.1:235395391 - 235463092 on Build GRCh38	Gain	B3GALNT2 TBCE
dgv586n100	Chr.1:235367709 - 235547476 on Build GRCh38	Gain	B3GALNT2 TBCE

More Information

Additional Information:

For this assay, SNP(s) [rs74148493] 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 -

chaperone

Gene Ontology Categories:

Process(es)

microtubule cytoskeleton organization
protein folding
post-chaperonin tubulin folding pathway
adult locomotory behavior
post-embryonic development
muscle atrophy
developmental growth
peripheral nervous system neuron axonogenesis

Function(s)

chaperone binding