Hs01023976_cn

• Gene Symbol: HAX1
• Assay Reference Genome Location: Chr.1:154273601 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 10456
• Gene Name: HCLS1 associated protein X-1
• Gene Aliases: HCLSBP1, HS1BP1, SCN3
• Location: Chr.1:154272563-154275875 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAX1	NM_001018837.1			NP_001018238.1
	NM_006118.3			NP_006109.2
	AK290626.1
	AK294298.1	2	406
	AK300676.1
	AK310000.1
	AK311450.1
	AK313291.1
	BC005240.1			AAH05240.1
	BC014314.1			AAH14314.1
	BC015209.1			AAH15209.1
	BC016730.1			AAH16730.1
	EU190982.1	2	414
	EU190983.1
	KU178523.1
	KU178524.1
	KU178525.1
	U68566.1			AAB51196.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521887	Chr.1:154264094 - 154711630 on Build GRCh38	Gain	SHE HAX1 CHRNB2 IL6R ATP8B2 TDRD10 UBAP2L UBE2Q1 AQP10 LOC101928101 UBE2Q1-AS1 ADAR KCNN3

More Information

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

Gene Ontology Categories:

Process(es)

mitochondrion organization
positive regulation of phosphatidylinositol 3-kinase signaling
regulation of actin filament polymerization
positive regulation of granulocyte differentiation
positive regulation of peptidyl-serine phosphorylation
regulation of apoptotic process
negative regulation of apoptotic process
positive regulation of transcription from RNA polymerase II promoter
positive regulation of peptidyl-tyrosine phosphorylation
positive regulation of protein kinase B signaling
cellular response to cytokine stimulus
regulation of mitophagy
regulation of protein targeting to mitochondrion
positive regulation of actin cytoskeleton reorganization

Function(s)

protein binding
interleukin-1 binding
protein N-terminus binding