Hs01504319_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82832053 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	2	713	NP_078978.2
	AK023903.1	2	682	BAB14718.1
	AK301690.1
	BC109036.1	2	672	AAI09037.1
	BC109037.1	2	672	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	TBCD LOC101929552 RAB40B ZNF750 WDR45B B3GNTL1 MIR4525 FN3K LOC105371944 FN3KRP FOXK2 LOC105376791 METRNL
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	MIR4525 TBCD LOC101929552 FN3K RAB40B ZNF750 FN3KRP LOC105376791
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	C17orf62 PCYT2 HGS ARL16 ARHGDIA TBCD RAC3 NPB MIR4740 CCDC57 SNORD134 SLC25A10 ZNF750 WDR45B STRA13 B3GNTL1 ASPSCR1 MIR6786 LOC105371925 MYADML2 SIRT7 DCXR TEX19 HEXDC LOC100130370 SLC38A10 FOXK2 MAFG FSCN2 LOC101929511 LOC101929552 LOC105376790 OGFOD3 AATK-AS1 MRPL12 UTS2R GPS1 MIR6787 GCGR TMEM105 CSNK1D FN3K PDE6G C17orf89 NPLOC4 NOTUM LINC00482 PYCR1 ALYREF ANAPC11 RFNG SECTM1 TEPSIN MAFG-AS1 NARF AATK ACTG1 LOC105371944 FN3KRP OXLD1 MIR3186 LRRC45 P4HB FASN RAB40B SLC16A3 MCRIP1 MIR4525 CEP131 CD7 CCDC137 FAAP100 PPP1R27 DUS1L BAHCC1 LOC105376791 TSPAN10
nsv1057589	Chr.17:82815790 - 82852057 on Build GRCh38	Loss	TBCD ZNF750
nsv833576	Chr.17:82769162 - 82847512 on Build GRCh38	Gain	TBCD ZNF750
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	C17orf62 LOC101929511 TBCD LOC101929552 RAB40B LOC105376790 OGFOD3 ZNF750 WDR45B UTS2R MIR4525 CD7 SECTM1 NARF CSNK1D TEX19 FN3K HEXDC FN3KRP FOXK2 LOC105376791
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	C17orf62 PCYT2 ARHGDIA TBCD RAC3 NPB CCDC57 SNORD134 ZNF750 WDR45B STRA13 B3GNTL1 ASPSCR1 MYADML2 SIRT7 DCXR TEX19 HEXDC FOXK2 MAFG LOC101929511 LOC101929552 LOC105376790 OGFOD3 UTS2R GPS1 MIR6787 CSNK1D FN3K NOTUM PYCR1 ALYREF ANAPC11 RFNG SECTM1 MAFG-AS1 NARF LOC105371944 FN3KRP LRRC45 P4HB FASN RAB40B SLC16A3 MCRIP1 MIR4525 CD7 PPP1R27 DUS1L LOC105376791 METRNL

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