Hs05482756_cn

• Gene Symbol: PAFAH1B1
• Assay Reference Genome Location: Chr.17:2602273 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 5048
• Gene Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
• Gene Aliases: LIS1, LIS2, MDCR, MDS, NudF, PAFAH
• Location: Chr.17:2593210-2685617 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAFAH1B1	NM_000430.3			NP_000421.1
	XM_011523901.1			XP_011522203.1
	XM_017024701.1			XP_016880190.1
	XM_017024702.1			XP_016880191.1
	AK313078.1
	BC064638.1			AAH64638.1
	BX538346.1			CAD98141.1
	L13385.1			AAA02880.1
	L13386.1			AAA02881.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833339	Chr.17:2578764 - 2769775 on Build GRCh38	Loss	MIR1253 LOC105371591 RAP1GAP2 CCDC92B PAFAH1B1 MIR6776 LOC105371592 CLUH
nsv1055844	Chr.17:2586358 - 2635403 on Build GRCh38	Gain	PAFAH1B1

More Information

Additional Information:

For this assay, SNP(s) [rs571881542] 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)

G2/M transition of mitotic cell cycle
establishment of mitotic spindle orientation
microtubule cytoskeleton organization
ameboidal-type cell migration
acrosome assembly
neuron migration
positive regulation of cytokine-mediated signaling pathway
microtubule-based process
sister chromatid cohesion
mitotic nuclear division
nuclear migration
chemical synaptic transmission
germ cell development
neuroblast proliferation
learning or memory
retrograde axonal transport
adult locomotory behavior
protein secretion
negative regulation of neuron projection development
lipid catabolic process
stem cell division
transmission of nerve impulse
corpus callosum morphogenesis
hippocampus development
layer formation in cerebral cortex
cerebral cortex neuron differentiation
cerebral cortex development
actin cytoskeleton organization
microtubule organizing center organization
osteoclast development
positive regulation of embryonic development
establishment of planar polarity of embryonic epithelium
regulation of GTPase activity
cortical microtubule organization
positive regulation of axon extension
positive regulation of mitotic cell cycle
negative regulation of JNK cascade
platelet activating factor metabolic process
vesicle transport along microtubule
brain morphogenesis
neuromuscular process controlling balance
nuclear envelope disassembly
establishment of centrosome localization
auditory receptor cell development
positive regulation of dendritic spine morphogenesis
regulation of microtubule cytoskeleton organization
cochlea development
microtubule cytoskeleton organization involved in establishment of planar polarity
regulation of microtubule motor activity

Function(s)

phospholipase A2 activity
protein binding
microtubule binding
heparin binding
protein complex binding
dynactin binding
protein homodimerization activity
phospholipase binding
dynein binding
dynein intermediate chain binding
phosphoprotein binding