Hs02499284_cn

• Gene Symbol: LHFPL5
• Assay Reference Genome Location: Chr.6:35814759 on build GRCh38
• Cytoband: 6p21.31

Target Gene Details

• Entrez Gene ID: 222662
• Gene Name: lipoma HMGIC fusion partner-like 5
• Gene Aliases: DFNB67, TMHS, dJ510O8.8
• Location: Chr.6:35805294-35824075 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LHFPL5	NM_182548.3			NP_872354.1
	AK126841.1
	BC028630.2			AAH28630.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv821646	Chr.6:35636651 - 35834817 on Build GRCh38	Loss	CLPSL1 SRPK1 CLPSL2 ARMC12 LOC285847 FKBP5 MIR5690 CLPS LHFPL5
nsv602939	Chr.6:35790295 - 35815720 on Build GRCh38	Gain	CLPSL1 CLPS LHFPL5
esv2759420	Chr.6:35495964 - 35838727 on Build GRCh38	Gain	CLPSL1 TULP1 TEAD3 SRPK1 CLPSL2 ARMC12 LOC285847 FKBP5 MIR5690 CLPS LHFPL5
nsv5259	Chr.6:35782160 - 35820302 on Build GRCh38	Insertion	CLPSL1 CLPS LHFPL5
nsv428143	Chr.6:35669306 - 35838727 on Build GRCh38	Gain	CLPSL1 SRPK1 CLPSL2 ARMC12 LOC285847 FKBP5 CLPS LHFPL5
esv3608694	Chr.6:35805410 - 35819929 on Build GRCh38	Gain	LHFPL5
esv3890842	Chr.6:35678658 - 35837356 on Build GRCh38	Gain	CLPSL1 SRPK1 CLPSL2 ARMC12 LOC285847 FKBP5 CLPS LHFPL5
esv3608689	Chr.6:35664221 - 35838480 on Build GRCh38	Gain	CLPSL1 SRPK1 CLPSL2 ARMC12 LOC285847 FKBP5 MIR5690 CLPS LHFPL5

More Information

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

Gene Ontology Categories:

Process(es)

ion transport
detection of mechanical stimulus involved in sensory perception of sound
auditory receptor cell stereocilium organization

Function(s)

protein binding