Hs01320269_cn

• Gene Symbol: TBCE
• Assay Reference Genome Location: Chr.1:235380113 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCE	NM_001079515.2	2	288	NP_001072983.1
	NM_001287801.1	2	240	NP_001274730.1
	NM_001287802.1	2	240	NP_001274731.1
	NM_003193.4	2	240	NP_003184.1
	AK093397.1	2	145
	AK292287.1	2	145
	AK296185.1	2	170
	AK298050.1	2	170
	BC008654.1	2	132	AAH08654.1
	BT007086.1	1	64	AAP35749.1
	CB110473.1	2	240
	DA418943.1	2	187
	DA981183.1	2	235
	U61232.1	2	193	AAB17538.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1012106	Chr.1:235354090 - 235401802 on Build GRCh38	Loss	TBCE
nsv1013571	Chr.1:235210731 - 235587805 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4 ARID4B GGPS1
dgv30n21	Chr.1:235198002 - 235605078 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4 ARID4B GGPS1
esv3575794	Chr.1:235370375 - 235549222 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4
nsv549392	Chr.1:235375705 - 235548388 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4
nsv1011288	Chr.1:235376656 - 235666302 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4 LYST
dgv586n100	Chr.1:235367709 - 235547476 on Build GRCh38	Gain	TBCE B3GALNT2

More Information

• Set Membership: Intragenic, 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