Hs02134018_cn

• Gene Symbol: TBC1D10A
• Assay Reference Genome Location: Chr.22:30293688 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 83874
• Gene Name: TBC1 domain family member 10A
• Gene Aliases: EPI64, TBC1D10, dJ130H16.1, dJ130H16.2
• Location: Chr.22:30291990-30326966 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D10A	NM_001204240.1			NP_001191169.1
	NM_031937.2			NP_114143.1
	AB449894.1
	AF331038.1			AAK35048.1
	AK074656.1			BAC11117.1
	AK093231.1
	AK127939.1
	AK131086.1			BAC85136.1
	AK309455.1
	BC136815.1
	BC142940.1
	BC150187.1
	BC150214.1
	BC171775.1
	CT841514.1			CAJ86444.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv588885	Chr.22:30265195 - 30295642 on Build GRCh38	Loss	TBC1D10A OSM GATSL3
nsv522605	Chr.22:30289087 - 30295642 on Build GRCh38	Loss	TBC1D10A GATSL3
nsv1062388	Chr.22:30253190 - 30315454 on Build GRCh38	Gain	TBC1D10A OSM GATSL3
nsv834174	Chr.22:30223771 - 30350926 on Build GRCh38	Gain+Loss	TBC1D10A SF3A1 OSM GATSL3 MGC20647 LIF
nsv829171	Chr.22:30202041 - 30647591 on Build GRCh38	Loss	SF3A1 RNF215 MTFP1 MGC20647 LIF SLC35E4 GAL3ST1 TCN2 SEC14L2 KIAA1656 SEC14L4 TBC1D10A OSM GATSL3 CCDC157 HORMAD2 PES1 SDC4P SEC14L3 SEC14L6

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
regulation of vesicle fusion
retrograde transport, endosome to Golgi
positive regulation of proteolysis
activation of GTPase activity
activation of cysteine-type endopeptidase activity
cell-cell adhesion
regulation of cilium assembly

Function(s)

guanyl-nucleotide exchange factor activity
GTPase activator activity
protein binding
Rab GTPase binding
PDZ domain binding
cadherin binding involved in cell-cell adhesion