Hs05164601_cn

• Gene Symbol: PCBD1
• Assay Reference Genome Location: Chr.10:70887849 on build GRCh38
• Cytoband: 10q22.1

Target Gene Details

• Entrez Gene ID: 5092
• Gene Name: pterin-4 alpha-carbinolamine dehydratase 1
• Gene Aliases: DCOH, PCBD, PCD, PHS
• Location: Chr.10:70882280-70888786 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCBD1	NM_000281.3			NP_000272.1
	NM_001289797.1			NP_001276726.1
	NM_001323004.1			NP_001309933.1
	AF082858.1			AAD25732.1
	BC006324.2			AAH06324.1
	BI548743.1
	BQ897536.1
	L41559.1			AAA69663.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv551495	Chr.10:70852412 - 70891937 on Build GRCh38	Loss	PCBD1 SGPL1
nsv1043245	Chr.10:70290210 - 70915897 on Build GRCh38	Loss	PCBD1 LRRC20 SGPL1 TBATA PALD1 PRF1 ADAMTS14 EIF4EBP2 NODAL

More Information

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

Panther Classification:

Molecular Function -

dehydratase

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
L-phenylalanine catabolic process
tetrahydrobiopterin biosynthetic process
regulation of protein homodimerization activity
positive regulation of transcription, DNA-templated
protein homotetramerization
protein heterooligomerization
oxidation-reduction process

Function(s)

transcription coactivator activity
phenylalanine 4-monooxygenase activity
protein binding
4-alpha-hydroxytetrahydrobiopterin dehydratase activity
identical protein binding