Hs01440780_cn

• Gene Symbol: DTX1
• Assay Reference Genome Location: Chr.12:113097611 on build GRCh38
• Cytoband: 12q24.13

Target Gene Details

• Entrez Gene ID: 1840
• Gene Name: deltex E3 ubiquitin ligase 1
• Gene Aliases: hDx-1
• Location: Chr.12:113056711-113098028 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DTX1	NM_004416.2	9	2871	NP_004407.2
	XM_011538009.2	10	3513	XP_011536311.1
	BC005816.2	5	1350	AAH05816.2
	BC048216.1	9	2813	AAH48216.1

Target Gene Details

• Entrez Gene ID: 8437
• Gene Name: RAS protein activator like 1
• Gene Aliases: RASAL
• Location: Chr.12:113096515-113136239 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RASAL1	XM_005253950.4	22	5055	XP_005254007.1
	XM_006719641.3	22	4894	XP_006719704.1
	XM_006719642.3	21	5024	XP_006719705.1
	XM_011538852.2	21	5027	XP_011537154.1
	XM_011538853.2	21	5021	XP_011537155.1
	XM_011538854.2	11	3767	XP_011537156.1
	XM_017020028.1	22	5052	XP_016875517.1
	XM_017020029.1	22	5137	XP_016875518.1
	XM_017020030.1	23	5165	XP_016875519.1
	XM_017020031.1	23	5162	XP_016875520.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv560265	Chr.12:113084969 - 113113365 on Build GRCh38	Loss	DTX1 RASAL1
nsv519540	Chr.12:113042705 - 113459599 on Build GRCh38	Gain+Loss	DDX54 PLBD2 IQCD SLC8B1 MIR6762 SDSL SDS TPCN1 CFAP73 DTX1 RASAL1 MIR7106 RITA1
nsv560264	Chr.12:113050137 - 113136469 on Build GRCh38	Loss	DTX1 RASAL1
esv3630792	Chr.12:112988703 - 113838810 on Build GRCh38	Gain	RBM19 DDX54 LHX5 LINC01234 OAS2 PLBD2 IQCD LHX5-AS1 SLC8B1 MIR6762 SDSL SDS TPCN1 CFAP73 DTX1 RASAL1 MIR7106 RITA1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, GTPase-activating protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
transcription from RNA polymerase II promoter
cell surface receptor signaling pathway
Notch signaling pathway
regulation of Notch signaling pathway
glial cell differentiation
protein ubiquitination
negative regulation of T cell differentiation
negative regulation of neuron differentiation
regulation of nucleic acid-templated transcription
MAPK cascade
signal transduction
positive regulation of GTPase activity
negative regulation of Ras protein signal transduction
positive regulation of dendrite extension

Function(s)

transcription coactivator activity
Notch binding
protein binding
zinc ion binding
ligase activity
SH3 domain binding
ubiquitin protein ligase binding
GTPase activator activity
phospholipid binding
metal ion binding