Hs01594757_cn

• Gene Symbol: LOC100129931
• Assay Reference Genome Location: Chr.4:7031919 on build GRCh38
• Cytoband: 4p16.1

Target Gene Details

• Entrez Gene ID: 100129931
• Gene Name: uncharacterized LOC100129931
• Gene Aliases: -
• Location: Chr.4:7030554-7046231 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100129931	NR_033828.1	4	2935
	AK126065.1	4	2935

Target Gene Details

• Entrez Gene ID: 57533
• Gene Name: TBC1 domain family member 14
• Gene Aliases: -
• Location: Chr.4:6909444-7033118 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D14	NM_001113361.1	14	3688	NP_001106832.1
	NM_001113363.1	12	2954	NP_001106834.1
	NM_001286805.1	12	2823	NP_001273734.1
	NM_020773.2	14	3810	NP_065824.2
	XM_005247986.2	13	3729	XP_005248043.1
	XM_006713895.2	14	3978	XP_006713958.1
	XM_011513507.2	15	3897	XP_011511809.1
	XM_011513508.1	15	3790	XP_011511810.1
	XM_011513513.2	13	2992	XP_011511815.1
	XM_017008477.1	13	3616	XP_016863966.1
	XM_017008478.1	13	3060	XP_016863967.1
	XM_017008479.1	11	2824	XP_016863968.1
	XM_017008480.1	15	3122	XP_016863969.1
	AB037743.1	13	3638
	AL833868.1	11	2675	CAD38726.1
	BC041167.1	14	3733	AAH41167.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428436	Chr.4:6986421 - 7268174 on Build GRCh38	Gain	GRPEL1 CCDC96 LOC100129931 FLJ36777 TADA2B SORCS2 TBC1D14
esv34033	Chr.4:6971543 - 7388894 on Build GRCh38	Loss	GRPEL1 CCDC96 LOC100129931 FLJ36777 MIR4798 TADA2B SORCS2 TBC1D14
nsv469847	Chr.4:7001798 - 7166714 on Build GRCh38	Gain	GRPEL1 CCDC96 LOC100129931 FLJ36777 TADA2B TBC1D14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
negative regulation of autophagy
regulation of vesicle fusion
recycling endosome to Golgi transport
activation of GTPase activity
regulation of cilium assembly
regulation of autophagosome assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding
protein kinase binding