Hs00302913_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82832667 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: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2			NP_078978.2
	AK023903.1			BAB14718.1
	AK301690.1
	BC109036.1			AAI09037.1
	BC109037.1			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	TBCD ZNF750 RAB40B B3GNTL1 FOXK2 FN3KRP MIR4525 METRNL LOC105376791 WDR45B LOC101929552 FN3K LOC105371944
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	FN3KRP MIR4525 TBCD ZNF750 RAB40B LOC105376791 LOC101929552 FN3K
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	LINC00482 RAB40B SLC25A10 PPP1R27 DCXR MIR6786 FSCN2 SIRT7 GCGR ASPSCR1 LOC105376791 C17orf62 ALYREF ARL16 TEPSIN P4HB STRA13 LOC101929511 B3GNTL1 PCYT2 BAHCC1 GPS1 MIR6787 CSNK1D LRRC45 ARHGDIA WDR45B SNORD134 SLC16A3 RAC3 RFNG HEXDC MCRIP1 LOC105371944 AATK CD7 MYADML2 NPB TSPAN10 FASN TMEM105 FOXK2 FN3KRP OGFOD3 ANAPC11 CEP131 MIR4740 PDE6G CCDC57 AATK-AS1 FN3K MAFG DUS1L NARF NOTUM SECTM1 TBCD ZNF750 MRPL12 SLC38A10 C17orf89 FAAP100 LOC105371925 MAFG-AS1 LOC105376790 UTS2R OXLD1 MIR4525 CCDC137 ACTG1 HGS PYCR1 LOC100130370 LOC101929552 TEX19 NPLOC4 MIR3186
nsv1057589	Chr.17:82815790 - 82852057 on Build GRCh38	Loss	TBCD ZNF750
nsv833576	Chr.17:82769162 - 82847512 on Build GRCh38	Gain	TBCD ZNF750
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	RAB40B PPP1R27 DCXR SIRT7 ASPSCR1 LOC105376791 C17orf62 ALYREF P4HB STRA13 LOC101929511 B3GNTL1 PCYT2 GPS1 MIR6787 CSNK1D LRRC45 ARHGDIA WDR45B SNORD134 SLC16A3 RAC3 RFNG HEXDC MCRIP1 LOC105371944 CD7 MYADML2 NPB FASN FOXK2 FN3KRP OGFOD3 ANAPC11 CCDC57 FN3K MAFG DUS1L NARF NOTUM SECTM1 TBCD ZNF750 MAFG-AS1 LOC105376790 UTS2R MIR4525 METRNL PYCR1 LOC101929552 TEX19
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	NARF LOC101929511 CD7 SECTM1 TBCD ZNF750 RAB40B CSNK1D LOC105376790 UTS2R FOXK2 FN3KRP OGFOD3 MIR4525 LOC105376791 WDR45B C17orf62 LOC101929552 FN3K HEXDC TEX19

More Information

• Set Membership: Intragenic, 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