Hs07083291_cn

• Gene Symbol: ATL1
• Assay Reference Genome Location: Chr.14:50561520 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATL1	NM_001127713.1			NP_001121185.1
	NM_015915.4			NP_056999.2
	NM_181598.3			NP_853629.2
	AF444143.1			AAL37898.1
	AK223436.1			BAD97156.1
	AK290185.1
	AK312518.1
	AL833591.1			CAH10392.1
	AY032844.1			AAK51160.1
	BC010708.2			AAH10708.2
	BG704589.1
	BI601372.1
	DA088230.1
	DA397302.1
	KU178621.1
	KU178622.1
	KU178623.1
	KU178624.1

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	MAP4K5 SAV1 ATL1
esv3581192	Chr.14:50546798 - 50708585 on Build GRCh38	Loss	MAP4K5 SAV1 ATL1

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

Function(s)

GTPase activity
protein binding
GTP binding
identical protein binding