Hs03367199_cn

• Gene Symbol: HHAT
• Assay Reference Genome Location: Chr.1:210337982 on build GRCh38
• Cytoband: 1q32.2

Target Gene Details

• Entrez Gene ID: 55733
• Gene Name: hedgehog acyltransferase
• Gene Aliases: MART2, SKI1, Skn
• Location: Chr.1:210327873-210676298 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HHAT	NM_001122834.3			NP_001116306.1
	NM_001170564.2			NP_001164035.1
	NM_001170580.2			NP_001164051.1
	NM_001170587.2			NP_001164058.1
	NM_001170588.2			NP_001164059.1
	NM_018194.5			NP_060664.2
	XM_006711441.3			XP_006711504.1
	XM_011509737.2			XP_011508039.1
	XM_011509738.2			XP_011508040.1
	XM_011509739.2			XP_011508041.1
	XM_011509740.2			XP_011508042.1
	XM_011509741.2			XP_011508043.1
	XM_011509742.2			XP_011508044.1
	XM_011509744.2			XP_011508046.1
	XM_011509746.2			XP_011508048.1
	XM_011509747.1			XP_011508049.1
	XM_017001726.1			XP_016857215.1
	XM_017001727.1			XP_016857216.1
	XM_017001728.1			XP_016857217.1
	XM_017001729.1			XP_016857218.1
	XM_017001730.1			XP_016857219.1
	XM_017001731.1			XP_016857220.1
	XM_017001732.1			XP_016857221.1
	XM_017001733.1			XP_016857222.1
	XM_017001734.1			XP_016857223.1
	XM_017001736.1			XP_016857225.1
	XM_017001737.1			XP_016857226.1
	XM_017001738.1			XP_016857227.1
	XM_017001739.1			XP_016857228.1
	XM_017001740.1			XP_016857229.1
	XM_017001742.1			XP_016857231.1
	XM_017001743.1			XP_016857232.1
	XM_017001744.1			XP_016857233.1
	AK001586.1			BAA91772.1
	AK295130.1
	AK297193.1
	AK298991.1
	AK299200.1
	AK302955.1
	AK316190.1
	BC039071.1
	DA336461.1
	DB077466.1
	DB080645.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv8769	Chr.1:210230164 - 210391244 on Build GRCh38	Gain	SERTAD4 HHAT SERTAD4-AS1

More Information

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

smoothened signaling pathway
multicellular organism development
protein palmitoylation
positive regulation of protein targeting to mitochondrion

Function(s)

GTP binding
O-acyltransferase activity
palmitoyltransferase activity