Hs01765924_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82832191 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	575	NP_078978.2
	AK023903.1	2	544	BAB14718.1
	AK301690.1
	BC109036.1	2	534	AAI09037.1
	BC109037.1	2	534	AAI09038.1
	DA872185.1

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

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