Hs01022327_cn

• Gene Symbol: FKBP1A
• Assay Reference Genome Location: Chr.20:1372225 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 2280
• Gene Name: FK506 binding protein 1A
• Gene Aliases: FKBP-12, FKBP-1A, FKBP1, FKBP12, PKC12, PKCI2, PPIASE
• Location: Chr.20:1368977-1393172 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FKBP1A	NM_000801.4			NP_000792.1
	NM_001199786.1			NP_001186715.1
	NM_054014.3			NP_463460.1
	AA731598.1
	AB241123.1
	AB241124.1
	AB241125.1
	BC001925.1
	BC005147.2			AAH05147.1
	BC119732.1
	BC119733.1
	BT007066.1			AAP35729.1
	CN426120.1
	CR407613.1			CAG28541.1
	CR542168.1			CAG46965.1
	CX870892.1
	M34539.1			AAA35844.1
	X52220.1			CAA36462.1

Target Gene Details

• Entrez Gene ID: 100528031
• Gene Name: FKBP1A-SDCBP2 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.20:1309909-1393172 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FKBP1A-SDCBP2	NR_037661.1
	AK309026.1
	BM925547.1

Target Gene Details

• Entrez Gene ID: 100507495
• Gene Name: SDCBP2 antisense RNA 1
• Gene Aliases: -
• Location: Chr.20:1325343-1378735 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SDCBP2-AS1	NR_040047.1
	NR_040048.1
	NR_040049.1
	AK055993.1
	DA274215.1
	DB454162.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522008	Chr.20:1359746 - 1657932 on Build GRCh38	Gain	SIRPB1 SIRPG-AS1 SIRPG SDCBP2-AS1 MIR6869 FKBP1A-SDCBP2 NSFL1C SIRPB2 FKBP1A SIRPD

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein peptidyl-prolyl isomerization
heart morphogenesis
protein folding
'de novo' protein folding
transforming growth factor beta receptor signaling pathway
SMAD protein complex assembly
protein maturation by protein folding
positive regulation of protein ubiquitination
positive regulation of protein binding
negative regulation of protein phosphatase type 2B activity
regulation of protein localization
regulation of activin receptor signaling pathway
protein refolding
T cell activation
positive regulation of I-kappaB kinase/NF-kappaB signaling
extracellular fibril organization
regulation of immune response
negative regulation of release of sequestered calcium ion into cytosol
ventricular cardiac muscle tissue morphogenesis
regulation of ryanodine-sensitive calcium-release channel activity
negative regulation of ryanodine-sensitive calcium-release channel activity
heart trabecula formation
chaperone-mediated protein folding
calcium ion transmembrane transport
regulation of amyloid precursor protein catabolic process
amyloid fibril formation

Function(s)

peptidyl-prolyl cis-trans isomerase activity
signal transducer activity
transforming growth factor beta receptor binding
protein binding
macrolide binding
FK506 binding
calcium channel inhibitor activity
type I transforming growth factor beta receptor binding
ion channel binding
SMAD binding
activin binding