Hs01220132_cn

• Gene Symbol: PBLD
• Assay Reference Genome Location: Chr.10:68296356 on build GRCh38
• Cytoband: 10q21.3

Target Gene Details

• Entrez Gene ID: 64081
• Gene Name: phenazine biosynthesis like protein domain containing
• Gene Aliases: HEL-S-306, MAWBP, MAWDBP
• Location: Chr.10:68282660-68332958 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PBLD	NM_001033083.1			NP_001028255.1
	NM_022129.3			NP_071412.2
	XM_005270028.3			XP_005270085.1
	XM_011540060.2			XP_011538362.1
	XM_017016513.1			XP_016872002.1
	XM_017016514.1			XP_016872003.1
	AB049758.1			BAB16606.1
	AK027673.1			BAB55285.1
	AK092826.1			BAC03986.1
	AK312275.1
	BC009738.1			AAH09738.1
	CB121561.1
	GQ472233.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3623705	Chr.10:68099008 - 68297411 on Build GRCh38	Gain	PBLD MYPN ATOH7
esv3623707	Chr.10:68214112 - 68304911 on Build GRCh38	Gain	PBLD ATOH7

More Information

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

Gene Ontology Categories:

Process(es)

biosynthetic process
negative regulation of epithelial cell migration
negative regulation of epithelial to mesenchymal transition
maintenance of gastrointestinal epithelium
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of epithelial cell proliferation
negative regulation of SMAD protein import into nucleus
negative regulation of pathway-restricted SMAD protein phosphorylation

Function(s)

molecular_function
protein binding
isomerase activity