Hs02826849_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82829562 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	3063	NP_078978.2
	AI539029.1	1	156
	AK023903.1	3	3032	BAB14718.1
	BC109036.1	3	3022	AAI09037.1
	BC109037.1	3	3022	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	LOC105376791 WDR45B FOXK2 MIR4525 ZNF750 FN3K LOC101929552 RAB40B FN3KRP B3GNTL1 TBCD METRNL LOC105371944
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	RAB40B LOC105376791 FN3KRP MIR4525 TBCD ZNF750 FN3K LOC101929552
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	LINC00482 LOC100130370 MRPL12 GCGR C17orf89 SNORD134 NARF TEX19 MAFG-AS1 SLC16A3 C17orf62 TBCD MAFG SIRT7 OGFOD3 LRRC45 NPB WDR45B CSNK1D ZNF750 DUS1L RAB40B CCDC57 DCXR ACTG1 CD7 AATK SECTM1 TMEM105 ASPSCR1 FSCN2 SLC25A10 NPLOC4 STRA13 MIR6787 MIR4525 MIR3186 LOC101929511 RFNG GPS1 FAAP100 FN3K LOC101929552 TEPSIN PCYT2 ANAPC11 HEXDC B3GNTL1 UTS2R HGS BAHCC1 LOC105376790 LOC105371944 P4HB RAC3 CEP131 LOC105371925 MCRIP1 LOC105376791 PDE6G FOXK2 MIR4740 ALYREF NOTUM AATK-AS1 MIR6786 FN3KRP OXLD1 ARL16 PPP1R27 MYADML2 TSPAN10 ARHGDIA FASN SLC38A10 PYCR1 CCDC137
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	SNORD134 NARF TEX19 MAFG-AS1 SLC16A3 C17orf62 TBCD MAFG SIRT7 OGFOD3 LRRC45 NPB WDR45B CSNK1D ZNF750 DUS1L RAB40B CCDC57 DCXR CD7 SECTM1 ASPSCR1 STRA13 MIR6787 MIR4525 LOC101929511 RFNG GPS1 FN3K LOC101929552 PCYT2 ANAPC11 HEXDC B3GNTL1 UTS2R LOC105376790 LOC105371944 P4HB RAC3 MCRIP1 LOC105376791 FOXK2 ALYREF NOTUM FN3KRP PPP1R27 MYADML2 ARHGDIA FASN METRNL PYCR1
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	LOC105376791 WDR45B FOXK2 MIR4525 CSNK1D LOC101929511 ZNF750 NARF FN3K LOC101929552 RAB40B TEX19 FN3KRP HEXDC C17orf62 UTS2R TBCD CD7 SECTM1 LOC105376790 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