Hs05231793_cn

• Gene Symbol: PHLDB1
• Assay Reference Genome Location: Chr.11:118610395 on build GRCh38
• Cytoband: 11q23.3

Target Gene Details

• Entrez Gene ID: 23187
• Gene Name: pleckstrin homology like domain family B member 1
• Gene Aliases: LL5A
• Location: Chr.11:118606296-118658038 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHLDB1	NM_001144758.2			NP_001138230.1
	NM_001144759.2			NP_001138231.1
	NM_015157.3			NP_055972.1
	XM_005271468.3	1	747	XP_005271525.1
	XM_005271469.3	1	747	XP_005271526.1
	XM_005271470.3	1	747	XP_005271527.1
	XM_005271471.3	1	747	XP_005271528.1
	XM_005271472.3	1	747	XP_005271529.1
	XM_005271473.3	1	747	XP_005271530.1
	XM_005271474.4	1	747	XP_005271531.1
	XM_005271475.3	1	747	XP_005271532.1
	XM_005277680.3	1	747	XP_005277737.1
	XM_006718796.3			XP_006718859.1
	XM_006718797.3	1	747	XP_006718860.1
	XM_006718798.3	1	747	XP_006718861.1
	XM_006718799.3	1	747	XP_006718862.1
	XM_006718800.3	1	747	XP_006718863.1
	XM_006718801.3	1	747	XP_006718864.1
	XM_006718802.3	1	747	XP_006718865.1
	XM_006718803.3	1	747	XP_006718866.1
	XM_011542703.2	1	747	XP_011541005.1
	XM_011542704.2	1	747	XP_011541006.1
	XM_011542705.2	1	747	XP_011541007.1
	XM_011542706.2	1	747	XP_011541008.1
	XM_011542707.2	1	747	XP_011541009.1
	XM_011542708.2			XP_011541010.1
	XM_011542709.2			XP_011541011.1
	XM_011542710.2	1	747	XP_011541012.1
	XM_011542714.2	1	747	XP_011541016.1
	XM_017017407.1	1	747	XP_016872896.1
	XM_017017408.1	1	747	XP_016872897.1
	XM_017017409.1	1	747	XP_016872898.1
	XM_017017410.1	1	747	XP_016872899.1
	XM_017017411.1	1	747	XP_016872900.1
	AB014538.2
	AB094090.1			BAC76044.1
	AK074070.2
	AK125783.1			BAC86289.1
	AK295819.1
	AL832373.1
	BC098586.1			AAH98586.1
	BX489377.1
	CR749783.1			CAH18649.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv25329	Chr.11:118608072 - 118612037 on Build GRCh38	Loss	PHLDB1
nsv832283	Chr.11:118566790 - 118786484 on Build GRCh38	Loss	TREH ARCN1 MIR6716 IFT46 DDX6 PHLDB1
nsv556465	Chr.11:118608595 - 118611488 on Build GRCh38	Loss	PHLDB1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of gastrulation
regulation of epithelial to mesenchymal transition
regulation of microtubule cytoskeleton organization
positive regulation of basement membrane assembly involved in embryonic body morphogenesis