Hs01659047_cn

• Gene Symbol: PRPF39
• Assay Reference Genome Location: Chr.14:45110810 on build GRCh38
• Cytoband: 14q21.2

Target Gene Details

• Entrez Gene ID: 55015
• Gene Name: pre-mRNA processing factor 39
• Gene Aliases: -
• Location: Chr.14:45084099-45115601 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPF39	NM_017922.3			NP_060392.3
	AK000673.1			BAA91318.1
	AK001990.1			BAA92024.1
	AK307530.1
	BC020655.1
	BC051886.1			AAH51886.1
	BC125126.1
	BC125127.1

Target Gene Details

• Entrez Gene ID: 100113389
• Gene Name: small nucleolar RNA, C/D box 127
• Gene Aliases: -
• Location: Chr.14:45110875-45110975 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNORD127	NR_003691.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832785	Chr.14:45051467 - 45241538 on Build GRCh38	Loss	LOC105370474 SNORD127 PRPF39 MIS18BP1 FAM179B FANCM FKBP3

More Information

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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

mRNA 5'-splice site recognition

Function(s)

pre-mRNA 5'-splice site binding