Hs06934420_cn

• Gene Symbol: PPFIBP1
• Assay Reference Genome Location: Chr.12:27544261 on build GRCh38
• Cytoband: 12p11.23

Target Gene Details

• Entrez Gene ID: 8496
• Gene Name: PPFIA binding protein 1
• Gene Aliases: L2, SGT2, hSGT2, hSgt2p
• Location: Chr.12:27524112-27695564 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPFIBP1	NM_001198915.1			NP_001185844.1
	NM_001198916.1			NP_001185845.1
	NM_003622.3			NP_003613.3
	NM_177444.2			NP_803193.2
	XM_006719159.3			XP_006719222.1
	XM_017020056.1			XP_016875545.1
	XM_017020059.1			XP_016875548.1
	XM_017020061.1			XP_016875550.1
	XM_017020062.1			XP_016875551.1
	XM_017020063.1			XP_016875552.1
	XM_017020064.1			XP_016875553.1
	XM_017020065.1			XP_016875554.1
	XM_017020066.1			XP_016875555.1
	XM_017020067.1			XP_016875556.1
	XM_017020068.1			XP_016875557.1
	XM_017020069.1			XP_016875558.1
	XM_017020070.1			XP_016875559.1
	XM_017020071.1			XP_016875560.1
	XM_017020072.1			XP_016875561.1
	XM_017020073.1			XP_016875562.1
	XM_017020074.1			XP_016875563.1
	XM_017020075.1			XP_016875564.1
	XM_017020078.1			XP_016875567.1
	AB033056.2
	AB049149.1			BAB39690.1
	AF034802.1			AAC26103.1
	AK294267.1
	AK314350.1
	BC022873.1
	BC046159.1			AAH46159.1
	BC050281.1			AAH50281.1
	BM272389.1
	BQ777042.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1406n100	Chr.12:27128236 - 27640822 on Build GRCh38	Gain	SMCO2 ARNTL2 STK38L PPFIBP1 ARNTL2-AS1
dgv2417n54	Chr.12:27068022 - 27638988 on Build GRCh38	Gain	C12orf71 SMCO2 ARNTL2 STK38L PPFIBP1 ARNTL2-AS1
nsv832358	Chr.12:27519016 - 27705439 on Build GRCh38	Gain	PPFIBP1 REP15
nsv436825	Chr.12:27135971 - 27642579 on Build GRCh38	Insertion	SMCO2 ARNTL2 STK38L PPFIBP1 ARNTL2-AS1
esv2745664	Chr.12:27017516 - 27820117 on Build GRCh38	Deletion	C12orf71 SMCO2 ARNTL2 MED21 MRPS35 STK38L PPFIBP1 REP15 ARNTL2-AS1 KLHL42 MANSC4
esv3628940	Chr.12:27451350 - 27631744 on Build GRCh38	Gain	SMCO2 PPFIBP1
nsv521872	Chr.12:27114021 - 27635541 on Build GRCh38	Gain	SMCO2 ARNTL2 STK38L PPFIBP1 ARNTL2-AS1
dgv271e199	Chr.12:27089700 - 27631451 on Build GRCh38	Deletion	SMCO2 ARNTL2 STK38L PPFIBP1 ARNTL2-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs200795633] 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

Gene Ontology Categories:

Process(es)

cell adhesion
cell-cell adhesion

Function(s)

cadherin binding involved in cell-cell adhesion