Hs07105720_cn

• Gene Symbol: ATL1
• Assay Reference Genome Location: Chr.14:50535105 on build GRCh38
• Cytoband: 14q22.1

Target Gene Details

• Entrez Gene ID: 51062
• Gene Name: atlastin GTPase 1
• Gene Aliases: AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1
• Location: Chr.14:50533082-50633068 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATL1	NM_001127713.1			NP_001121185.1
	AL833591.1			CAH10392.1
	DA397302.1

Target Gene Details

• Entrez Gene ID: 11183
• Gene Name: mitogen-activated protein kinase kinase kinase kinase 5
• Gene Aliases: GCKR, KHS, KHS1, MAPKKKK5
• Location: Chr.14:50418493-50561126 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAP4K5	XM_011536378.2			XP_011534680.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1039493	Chr.14:50476979 - 50687775 on Build GRCh38	Gain	SAV1 ATL1 MAP4K5

More Information

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

Panther Classification:

Molecular Function -

heterotrimeric G-protein

Gene Ontology Categories:

Process(es)

endoplasmic reticulum organization
axonogenesis
protein homooligomerization
activation of MAPKKK activity
protein phosphorylation
activation of JUN kinase activity
intracellular signal transduction

Function(s)

GTPase activity
protein binding
GTP binding
identical protein binding
protein kinase activity
protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
ATP binding
MAP kinase kinase kinase kinase activity