Hs00818473_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82830879 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 2 - Exon 3

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

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