Hs01872777_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82830109 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	3	2516	NP_078978.2
	AK023903.1	3	2485	BAB14718.1
	AK301690.1	4	1292
	BC109036.1	3	2475	AAI09037.1
	BC109037.1	3	2475	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 LOC105376791 LOC105371944 MIR4525 WDR45B TBCD RAB40B FOXK2 METRNL FN3KRP FN3K B3GNTL1 LOC101929552
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	RAB40B ZNF750 LOC105376791 MIR4525 FN3KRP FN3K LOC101929552 TBCD
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	UTS2R GCGR LOC105371944 ANAPC11 PCYT2 TSPAN10 NPB GPS1 TEX19 MYADML2 CEP131 ASPSCR1 FOXK2 MAFG-AS1 CCDC57 LINC00482 SLC38A10 B3GNTL1 HGS LOC100130370 CSNK1D DCXR MIR4525 ARL16 FAAP100 TEPSIN HEXDC SNORD134 LOC101929511 DUS1L RAC3 NPLOC4 TMEM105 LOC105376790 LOC105376791 MCRIP1 MIR6786 LOC105371925 CD7 MIR4740 WDR45B NOTUM TBCD C17orf89 CCDC137 SLC25A10 PPP1R27 ALYREF FSCN2 ARHGDIA SECTM1 SIRT7 OXLD1 C17orf62 LOC101929552 PYCR1 AATK OGFOD3 ZNF750 FASN ACTG1 SLC16A3 MIR3186 BAHCC1 RAB40B STRA13 LRRC45 NARF PDE6G FN3KRP MAFG P4HB RFNG MRPL12 MIR6787 FN3K AATK-AS1
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	UTS2R LOC105371944 ANAPC11 PCYT2 NPB GPS1 TEX19 MYADML2 ASPSCR1 FOXK2 MAFG-AS1 CCDC57 B3GNTL1 CSNK1D DCXR MIR4525 HEXDC SNORD134 LOC101929511 DUS1L METRNL RAC3 LOC105376790 LOC105376791 MCRIP1 CD7 WDR45B NOTUM TBCD PPP1R27 ALYREF ARHGDIA SECTM1 SIRT7 C17orf62 LOC101929552 PYCR1 OGFOD3 ZNF750 FASN SLC16A3 RAB40B STRA13 LRRC45 NARF FN3KRP MAFG P4HB RFNG MIR6787 FN3K
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	ZNF750 LOC105376790 LOC105376791 UTS2R CSNK1D MIR4525 CD7 WDR45B TBCD TEX19 RAB40B HEXDC LOC101929511 NARF FOXK2 FN3KRP SECTM1 C17orf62 FN3K LOC101929552 OGFOD3

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