Hs04085084_cn

• Gene Symbol: PHF5A
• Assay Reference Genome Location: Chr.22:41460478 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 84844
• Gene Name: PHD finger protein 5A
• Gene Aliases: INI, Rds3, SAP14b, SF3B7, SF3b14b, bK223H9.2
• Location: Chr.22:41459717-41468704 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHF5A	NM_032758.3			NP_116147.1
	BC007321.2			AAH07321.1
	BC075808.1			AAH75808.1
	BU584712.1
	CR456398.1			CAG30284.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834207	Chr.22:41282650 - 41463790 on Build GRCh38	Loss	ZC3H7B TEF LOC100996598 TOB2 RANGAP1 PHF5A
nsv516925	Chr.22:41252498 - 41585953 on Build GRCh38	Loss	ZC3H7B MIR6889 ACO2 TEF LOC100996598 POLR3H TOB2 RANGAP1 PMM1 PHF5A LOC105373044 CSDC2
nsv834208	Chr.22:41363612 - 41554028 on Build GRCh38	Loss	ACO2 TEF LOC100996598 POLR3H TOB2 PHF5A LOC105373044
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	ACO2 MEI1 MIR1281 LOC100996598 POLR3H CHADL SNORD140 CSDC2 EP300-AS1 ZC3H7B SNU13 L3MBTL2 MIR6889 TEF C22orf46 DESI1 TOB2 RANGAP1 PMM1 XRCC6 PHF5A LOC105373044 EP300

More Information

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

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
transcription, DNA-templated
positive regulation of transcription, DNA-templated

Function(s)

DNA binding
transcription factor activity, sequence-specific DNA binding
poly(A) RNA binding