Hs03014802_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82839975 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	1	81	NP_078978.2
	AK023903.1	1	50	BAB14718.1
	AK301690.1	1	48
	BC109036.1	1	40	AAI09037.1
	BC109037.1	1	40	AAI09038.1
	DA433713.1
	DA872185.1	1	48

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

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