Hs01311263_cn

• Gene Symbol: PELP1
• Assay Reference Genome Location: Chr.17:4672632 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 27043
• Gene Name: proline, glutamate and leucine rich protein 1
• Gene Aliases: MNAR, P160
• Location: Chr.17:4671384-4704337 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PELP1	NM_001278241.1	17	2667	NP_001265170.1
	NM_014389.2	16	2585	NP_055204.3
	AF547989.1	16	2359	AAN41255.1
	AK226056.1	16	2365
	AK291163.1	16	2385
	AK293838.1	17	2454
	AK299084.1	16	2573
	AY882602.1	16	2152	AAW80659.1
	BC002875.2	6	1200	AAH02875.2
	BC010457.2	15	2113	AAH10457.2
	BC069058.1	16	2359	AAH69058.1
	U88153.2	15	2794	AAC17708.2
	U88154.1	15	2010	AAC17709.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	C17orf107 LOC100130950 ALOX15 GP1BA ZMYND15 LOC101559451 CXCL16 MINK1 ZNF232 ENO3 NUP88 RPAIN C1QBP MIR6864 SPAG7 MED11 SCIMP LOC101928000 INCA1 LOC101927979 SLC25A11 MIR6865 ZNF594 VMO1 KIF1C LOC107984973 DHX33 SMTNL2 TM4SF5 PSMB6 SLC52A1 RABEP1 USP6 GLTPD2 ZFP3 ARRB2 LOC102724009 PELP1 RNF167 CHRNE PLD2 LOC400568 PFN1 CAMTA2
nsv833346	Chr.17:4646256 - 4860871 on Build GRCh38	Loss	VMO1 LOC107984973 TM4SF5 ZMYND15 PSMB6 LOC101559451 GLTPD2 ARRB2 CXCL16 PELP1 MINK1 PLD2 MED11

More Information

Additional Information:

For this assay, SNP(s) [rs116554252] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
rRNA processing
positive regulation of transcription from RNA polymerase II promoter
cellular response to estrogen stimulus

Function(s)

chromatin binding
protein binding
transcription factor binding
poly(A) RNA binding