Hs00166609_cn

• Gene Symbol: HIP1R
• Assay Reference Genome Location: Chr.12:122855066 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 9026
• Gene Name: huntingtin interacting protein 1 related
• Gene Aliases: HIP12, HIP3, ILWEQ
• Location: Chr.12:122834498-122862961 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HIP1R	NM_001303097.1			NP_001290026.1
	NM_001303099.1			NP_001290028.1
	NM_003959.2			NP_003950.1
	XM_011538963.1			XP_011537265.1
	AB013384.1			BAA33713.1
	AB014555.1
	AK090537.1
	AK298387.1
	BC067085.1			AAH67085.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv560490	Chr.12:122841827 - 122862424 on Build GRCh38	Loss	HIP1R
nsv952498	Chr.12:122839654 - 122868353 on Build GRCh38	Deletion	VPS37B HIP1R
nsv517200	Chr.12:122827504 - 123169951 on Build GRCh38	Loss	OGFOD2 MPHOSPH9 ARL6IP4 VPS37B LOC100507091 MIR4304 PITPNM2 ABCB9 HIP1R

More Information

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

Panther Classification:

Molecular Function -

non-motor actin binding protein

Gene Ontology Categories:

Process(es)

receptor-mediated endocytosis
apoptotic process
clathrin-mediated endocytosis

Function(s)

actin binding
protein binding
clathrin binding
phosphatidylinositol binding