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

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