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

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