Hs01714352_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82832464 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 6904
• Gene Name: tubulin folding cofactor D
• Gene Aliases: SSD-1, tfcD
• Location: Chr.17:82752048-82943186 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCD	NM_005993.4			NP_005984.3
	XM_005256396.4			XP_005256453.1
	XM_006722290.2			XP_006722353.1
	XM_011523589.1			XP_011521891.1
	XM_011523590.1			XP_011521892.1
	XM_011523591.1			XP_011521893.1
	XM_011523593.1			XP_011521895.1
	XM_017024987.1			XP_016880476.1
	XM_017024988.1			XP_016880477.1
	XM_017024990.1			XP_016880479.1
	AB023205.1
	AJ006417.1			CAA07022.1
	AK091959.1			BAC03777.1
	AK293471.1
	AL133562.1			CAB63716.1
	BC003094.1			AAH03094.1

Target Gene Details

• Entrez Gene ID: 79755
• Gene Name: zinc finger protein 750
• Gene Aliases: ZFP750
• Location: Chr.17:82829434-82840055 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	2	302	NP_078978.2
	AK023903.1	2	271	BAB14718.1
	AK301690.1
	BC109036.1	2	261	AAI09037.1
	BC109037.1	2	261	AAI09038.1
	DA872185.1	2	269

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1067553	Chr.17:82530808 - 83091923 on Build GRCh38	Loss	FN3K LOC101929552 ZNF750 TBCD FN3KRP RAB40B LOC105376791 METRNL WDR45B B3GNTL1 MIR4525 LOC105371944 FOXK2
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	FN3K LOC101929552 ZNF750 TBCD FN3KRP RAB40B MIR4525 LOC105376791
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	FAAP100 DUS1L LOC105376790 LOC101929511 LOC101929552 ANAPC11 FASN FN3KRP PYCR1 GCGR MIR6787 FSCN2 LINC00482 CCDC57 ACTG1 FOXK2 FN3K ARL16 LOC105371925 PCYT2 GPS1 C17orf62 MRPL12 TBCD MAFG LOC105376791 MIR6786 CEP131 RFNG ARHGDIA MIR4740 STRA13 NPB CD7 LRRC45 LOC105371944 MCRIP1 PPP1R27 TEX19 BAHCC1 SLC38A10 OGFOD3 CCDC137 SIRT7 NARF MAFG-AS1 SECTM1 SNORD134 P4HB TSPAN10 HGS PDE6G SLC25A10 TEPSIN ASPSCR1 B3GNTL1 TMEM105 RAC3 MIR4525 NOTUM AATK-AS1 ALYREF UTS2R MYADML2 CSNK1D ZNF750 RAB40B AATK C17orf89 WDR45B LOC100130370 OXLD1 MIR3186 NPLOC4 DCXR SLC16A3 HEXDC
nsv1057589	Chr.17:82815790 - 82852057 on Build GRCh38	Loss	ZNF750 TBCD
nsv833576	Chr.17:82769162 - 82847512 on Build GRCh38	Gain	ZNF750 TBCD
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	FN3K UTS2R LOC105376790 LOC101929511 C17orf62 TEX19 CSNK1D LOC101929552 ZNF750 TBCD OGFOD3 FN3KRP NARF RAB40B SECTM1 LOC105376791 WDR45B CD7 MIR4525 HEXDC FOXK2
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	DUS1L LOC105376790 LOC101929511 LOC101929552 ANAPC11 FASN FN3KRP PYCR1 MIR6787 CCDC57 FOXK2 FN3K PCYT2 GPS1 C17orf62 TBCD MAFG LOC105376791 RFNG ARHGDIA STRA13 NPB CD7 LRRC45 LOC105371944 MCRIP1 PPP1R27 TEX19 OGFOD3 SIRT7 NARF MAFG-AS1 SECTM1 SNORD134 P4HB METRNL ASPSCR1 B3GNTL1 RAC3 MIR4525 NOTUM ALYREF UTS2R MYADML2 CSNK1D ZNF750 RAB40B WDR45B DCXR SLC16A3 HEXDC

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
tubulin complex assembly
post-chaperonin tubulin folding pathway
negative regulation of cell-substrate adhesion
negative regulation of microtubule polymerization
adherens junction assembly
positive regulation of GTPase activity
bicellular tight junction assembly
transcription from RNA polymerase II promoter
epidermis development
cell differentiation
positive regulation of transcription from RNA polymerase II promoter

Function(s)

GTPase activator activity
protein binding
beta-tubulin binding
chaperone binding
core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
metal ion binding