Hs04008645_cn

• Gene Symbol: TBC1D17
• Assay Reference Genome Location: Chr.19:49879476 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 79735
• Gene Name: TBC1 domain family member 17
• Gene Aliases: -
• Location: Chr.19:49877425-49888750 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D17	NM_001168222.1			NP_001161694.1
	NM_024682.2			NP_078958.2
	XM_011527317.2			XP_011525619.1
	AB449903.1
	AK022230.1			BAB13991.1
	AK090606.1
	AK300007.1
	AK309412.1
	AY129013.1			AAM98756.1
	BC003516.1			AAH03516.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3644628	Chr.19:49861781 - 49908526 on Build GRCh38	Gain	AKT1S1 IL4I1 PNKP MIR4750 NUP62 TBC1D17
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	BSPH1 LOC100287477 TMEM143 GRWD1 DKKL1 ZNF473 NUP62 LOC101928295 TBC1D17 EMP3 HSD17B14 PPFIA3 SNAR-C3 PTH2 PTOV1 PRRG2 PLEKHA4 FGF21 SCAF1 SIGLEC11 SIGLEC16 SLC6A16 AP2A1 GRIN2D SNAR-A13 SNAR-C1 SNAR-A9 IL4I1 MIR6798 GYS1 C19orf73 SLC17A7 PLA2G4C-AS1 MIR150 RPL18 FUT1 FUT2 TEAD2 SNAR-A2 SNAR-A8 ZNF114 LMTK3 MIR4749 PLA2G4C SNAR-D SYNGR4 SNAR-A10 MAMSTR SNAR-A4 SNAR-A1 LOC105372430 MIR4750 SPHK2 CCDC155 CGB1 MIR6799 DHDH MED25 C19orf68 CARD8 CGB8 ALDH16A1 SEC1P MIR5088 CGB2 DBP CGB7 RUVBL2 NUCB1-AS1 ADM5 BAX PRR12 SNAR-A6 PIH1D1 SNAR-B2 SNAR-A11 TRPM4 SNRNP70 LHB CD37 NTF4 MIR6800 NOSIP RPS11 SNAR-C2 TULP2 RASIP1 BCAT2 LOC105447645 IZUMO1 LIN7B SNORD33 FAM83E IRF3 SNAR-G2 KCNJ14 LOC101059948 SNORD35A FUZ SULT2B1 CA11 RPL13A SNAR-C5 PNKP SNAR-A7 CGB3 LIG1 BCL2L12 SNAR-B1 RRAS RCN3 TSKS SNORD34 GFY SNAR-G1 NTN5 PTOV1-AS2 PTOV1-AS1 KDELR1 PPP1R15A FLJ26850 CPT1C CCDC114 SNAR-C4 SNAR-A5 SNAR-A12 HRC MIR4324 CGB5 VRK3 NUCB1 FTL SNAR-A3 AKT1S1 CABP5 CYTH2 PRMT1 SNORD35B FLT3LG SNAR-A14 FCGRT KCNA7 CARD8-AS1 MIR4751 ELSPBP1 SNORD32A ATF5 SPACA4
nsv524068	Chr.19:49853907 - 49897791 on Build GRCh38	Loss	AKT1S1 PTOV1 IL4I1 PNKP MIR4750 MIR4749 PTOV1-AS2 TBC1D17
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TSKS AP2A1 MIR6799 FUZ IL4I1 PNKP MED25 MIR6800 MIR4749 NUP62 PTOV1-AS2 TBC1D17 PTOV1-AS1 AKT1S1 PTOV1 MIR4750 MIR4751 ATF5
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	TSKS MIR6800 MIR4749 NOSIP NUP62 PTOV1-AS2 TBC1D17 PTOV1-AS1 PTOV1 PRRG2 CPT1C SCAF1 MIR4750 IRF3 AP2A1 MIR6799 FUZ IL4I1 PNKP MED25 MIR5088 AKT1S1 BCL2L12 PRMT1 RRAS ADM5 MIR4751 PRR12 ATF5
esv3644630	Chr.19:49877826 - 50039767 on Build GRCh38	Gain	AKT1S1 VRK3 ZNF473 IL4I1 SIGLEC11 MIR4750 NUP62 SIGLEC16 TBC1D17 MIR4751 ATF5
nsv2519	Chr.19:49871034 - 49890468 on Build GRCh38	Deletion	AKT1S1 IL4I1 MIR4750 TBC1D17
dgv54n68	Chr.19:49848512 - 50008788 on Build GRCh38	Loss	VRK3 IL4I1 PNKP MIR4749 NUP62 PTOV1-AS2 TBC1D17 PTOV1-AS1 AKT1S1 PTOV1 SIGLEC11 MIR4750 SIGLEC16 MIR4751 ATF5

More Information

Additional Information:

For this assay, SNP(s) [rs76519496] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

autophagy
protein transport
retrograde transport, endosome to Golgi
positive regulation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding